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f~i2•J11il1~nr.m,__ lClllg Ci:22 7 Clf Pediatric GaslroentelOlogy Pediatric Case Diary
1st Edition
Dr. Md Benzamin MBBS, MD Resident Phase-B Department of Pediatric Gastroenterology and Nutrition Bangabandhu Sheikh Mujib Medical University Shahbag, Dhaka, 1000, Bangladesh.
Dr. Afsana Yasmin MBBS, MD (Pediatric Gastroenterology) Registrar, Department of Gastroenterology Apollo Hospital Dhaka, Bangladesh.
Dr. Mukesh Khadga MBBS, MD Resident Phase-B Department of Pediatric Gastroenterology and Nutrition Bangabandhu Sheikh Mujib Medical University Shahbag, Dhaka, 1000, Bangladesh.
i
Pediatric Case Diary Dr. Md. Benzamin Dr. Afsana Yasmin Dr. Mukesh Khadga
International Standard Book Number (ISBN): 978-984-34-7216-8
1ST Edition : August: 2019
Reviewer : Dr. Mydul Islam Khan MD (Pediatrics), BCS (Health)
Published by : Aisharza Sultana Aishy, Reshma Khandoker 230, Rafiqul Islam Mohila College Road Bhairab, Kishoregonj.
Cover design and graphics: Bappy Nandi Omasis Printers
Copy right© 2019, by the author. All rights reserved. No part of this book may be reproduced, stored in a retrieval system or transmitted in any form or by any means electronic or mechanical including photocopying without prior permission from author.
Price : Tk. 500 $ 15
Distributor : Central Medical Book distributor. Bhairab, Kishoregonj. Mobile: 01799508160
ii
Foreword
I am very much glad as “Pediatric Case Diary” is going to compile the clinical cases as a book.
I am sure that this book would be helpful for post graduate resident doctors and practicing pediatrician.
Professor Md. Mizanur Rahman Chairman Department of Pediatric Neurology Bangabandhu Sheikh Mujib Medical University
iii
Foreword
I am delighted to see that “Pediatric Case Diary” is going to be published. It reflects the total hardwork of authors and their dedication to serve for the children. I must say this book is a collection of all important cases with real pictures that we usually face. Hope, this book will be helpful for post graduate resident doctors and practicing pediatrician.
I wish the team of authors an utmost success for their book.
Professor ASM Bazlul Karim Chairman Department of Pediatric Gastroenterology and Nutrition, Bangabandhu Sheikh Mujib Medical University
iv
Foreword
I am happy to see the book “Pediatric Case Diary” is going to be published in August, 2019. It has been a long desire for pediatric students for a long time. Every case is presented brilliantly with updated information and illustration. I appreciate the team of authors who accomplished this noble task.
I am hopeful that this book will be useful to all pediatric students and practitioners, who love, care and treat children. I wish for success of this team of authors.
Professor Ranjit Ranjan Roy Chairman Department of Pediatric Nephrology Bangabandhu Sheikh Mujib Medical University
v
Foreword
I am very much glad to see that “Pediatric Case Diary” is going to be published. Clinical scenarios presenting in our day to day practice require careful analysis with relevant investigation and proper diagnosis. “Pediatric Case Diary” is a collection of some wonderful lively cases with photos. I appreciate Md Benzamin and his team for this hard work and published all the cases as a book.
I am sure that this book will be helpful for post graduate resident doctors and practicing pediatrician.
Dr Mujammel Haque Assistant Professor Department of Pediatrics Bangabandhu Sheikh Mujib Medical University
vi
Preface
Children are large vulnerable group of population throughout the globe. Clinical presentation of pediatric diseases has a wide range of symptoms and signs. Diagnosis is often challenging with limited resources and investigation facilities. So they need extra care and attention. This book is going to address pediatric health problems and how to approach to reach a diagnosis. We tried to provide updated information to pediatric disease in a precise simplified manner. We will humbly accept any constructive criticism of this book.
We dedicate this book to all parents specially Md. Nazrul Islam and Rebeka Sultana. Dr. Mydul Islam Khan is acknowledgeable. We are really thankful to Dr. Manmohan Shrestha for giving his valuable radiological opinion regarding the cases discussed in this book.
Dr. Md. Benzamin Dr. Afsana Yasmin Dr. Mukesh Khadga
vii
Contributors
We are grateful to all the teachers and residents of pediatrics who diagnosed the cases and the contributors who helped in the first edition of this book specially Dr. Kaniz Fathema, Phase-B resident of department of pediatric gastroenterology and Dr. Masud Rana, clinic manager of Hazi Asmot Ali Medical Centre, Bhairab.
We are also thankful to other contributors Kiran Kumari Yadav, Lavya, Dr. Maimuna Sayeed, Dr. Saidul Islam, Dr. Rubaiyat Alam, Dr. Kamal Hossen, Dr. Shashi Bhushan Thakur, Dr. Zannatul Ferdous Sonia, Dr. AZM Raihanur Rahman, Dr. Nazmul Ahamed, Dr. Sharmin Akter, Dr. Ferdous Ara Jenny, Dr. Suborna Rani Das, Dr. Parisa Marjan, Dr. Hazera Akther, Dr. Lutfun Nahar, Dr. Monmon, Dr. Aysha Sabiha, Dr. Rafia Rashid, Dr. Nahid-E-Subha, Dr. Ruhina Tasmeen, Dr. Sagar Kumar Gupta, Dr. Maria Kibtiar, Dr. Ruksana Parven, Dr. Omor Faruk, Dr. Dr. Sharmin A. Luna, Dr. Tapos Chowdhory, Dr. Imrul Kayes, Dr. Manmohan Shrestha and other residents. Thanks to Beximco Pharmaceutical and Aristopharma Pharmaceutical for their support.
viii
Pediatric Case Diary
Contents Diagnosis Pages
Case-1 Neonatal Cholestasis due to Biliary Atresia…………………………………….08
Case-2 Neonatal Cholestasis due to Idiopathic Neonatal Hepatitis…………….12
Case-3 Neonatal cholestasis due to Galactosemia……………………………………..16
Case-4 Neonatal Cholestasis due to Sub Clinical Hypothyroidism………………19
Case-5 Severe Acute Malnutrition with Dermatosis with UTI…………………….23 Case-6 Hirschsprung disease with secondary severe acute malnutrition…..26
Case-7 Severe acute malnutrition secondary to short bowel syndrome…….31
Case-8 Acute Liver Failure due to HAV with Hepatic Encephalopathy stage- I ………………………………………………………………..34
Case- 9 Acute viral hepatitis (HAV) with AKI (failure pattern) …………………….37
Case-10 Acute viral Hepatitis (Non A-E) with Thalassemia Trait…………………..40
Case-11 Chronic liver disease with portal HTN due to HBV infection………..…43
Case-12 Chronic liver disease due to Wilson disease with neurological manifestations with osteomalacia with portal hypertension………….47
Case-13 CLD with portal hypertension with coagulopathy due to Autoimmune hepatitis with grade III esophageal varices……………….51
Case-14 CLD due to Biliary Atresia with Portal Hypertension with Spontaneous Bacterial Peritonitis with Congenital CMV infection….54
Case-15 Chronic liver disease with portal hypertension due to Budd-Chiari syndrome ……….…………………………………………………….…..57
Case-16 Infected Hydatid Cyst of Liver with Hb-E-ß Thalassemia…….……….…61
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Pediatric Case Diary
Case-17 Amoebic liver abscess …………………………………………………….……………64
Case-18 Chylous Ascites due to Congenital Intestinal Lymphangiectasia…...67
Case-19 Hypertriglyceridemia-induced Acute Pancreatitis………………………...70
Case-20 Acute Recurrent Pancreatitis………………………………………………………..72
Case-21 Chronic pancreatitis with pancreatic pseudocyst……………………….…74
Case-22 Juvenile Tropical Pancreatitis / Fibro calculus pancreatic diabetes (FCPD) ……………………………………………………….…76
Case-23 Cystic Fibrosis with Pneumonia with FTT with Microcephaly with Global developmental delay ……………………………………………...80
Case-24 Congenital Cyanotic Heart Disease (Pulmonary arteriovenous malformations) with Extra-hepatic portal hypertension with disseminated Tuberculosis …….………………………83
Case-25 Henoch Schonlein Purpura……………………………………………………….….87
Case-26 Glycogen Storage Disease……………………………………………………….……89
Case-27 Hepatoblastoma…………………………………………………………………….…….91
Case-28 Gilbert Syndrome………………………………………………………………….……..93
Case-29 Obstructive Jaundice due to malignant growth (Neuroblastoma/Lymphoma)……………………………………………….………95
Case-30 Chronic liver disease with portal hypertension due to Wilson disease with spontaneous bacterial peritonitis with hepatic hydrothorax…………………………………………………………..…………99
Case-31 Acquired immune deficiency syndrome (AIDS) (Clinical Stage 3)………………………………………………………………..…………102
Case-32 Intestinal Tuberculosis………………………………………………….……………..105
Case-33 Inflammatory Bowel Disease (Crohn’s Disease) ………….……………….108
Case-34 Juvenile colonic polyp……………………………………………….………………….111
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Pediatric Case Diary
Case-35 Generalized Juvenile Polyposis Syndrome………………………….…………113
Case-36 Duplication cyst of jejunum……………………………………………..…………..115
Case-37 Langerhans cell histiocytosis (multi system disease)……..………………118
Case-38 Aerophagia ………………………………………………………………..…………………122
Case-39 Term (40 weeker), AGA (3000g) with acute bilirubin encephalopathy (Intermediate phase) due to Rh isoimmunization……………………………………………………………………..…….124
Case-40 Post dated (41 wks), LGA (4320 gm) with Left sided Congenital Diaphragmatic Hernia…………………………..……………………..128
Case-41 Pre term (36 weeker), AGA (2850 gm) with omphalocele……………..130
Case-42 Persistent hyperinsulinemic hypoglycemia of infancy…………………...131
Case-43 Disseminated TB…………………………………………………………………………...134
Case-44 Tubercular Lymphadenitis (Cervical)………………………………………….….137
Case-45 Tubercular spondylitis at L1-L2 level with psoas abscess (bilateral)………………………………………………………………………….139
Case-46 Congenital Hypothyroidism……………………………………………………..……144
Case-47 Virilizing Adrenocortical Tumor……………………………………………..……..146
Case-48 Familial isolated growth hormone deficiency…………………………..……149
Case-49 Peripheral precocious puberty due to congenital adrenal
hyperplasia simple virilizing form of 21 hydroxylase deficiency……..152
Case-50 Treatment failure Kala azar………………………………..……………………...….155
Case-51 Nutritional Rickets…………………………………………….……………………………157
Case-52 Rickets most likely Vitamin D dependent……………………………………….159
Case-53 Vitamin D dependent Rickets most likely type -2……………………………162
Case-54 Rickets due to Renal Tubular Acidosis (Distal)…..……………………………165
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Pediatric Case Diary
Case-55 Osteogenesis Imperfecta………………………………………………………………169
Case-56 Systemic Juvenile Idiopathic Arthritis……………………………………………171
Case-57 Juvenile Idiopathic Arthritis, Enthesitis Related Arthritis………………173
Case-58 Juvenile idiopathic arthritis (oligoarthritis-extended variety)……….176
Case-59 RF positive Polyarticular JIA………………………………………………………….179
Case-60 Poly Arteritis Nodosa……………………………………………………………………180
Case-61 Kawasaki disease………………………………………………………………………….182
Case-62 Juvenile Dermatomyositis…………………………………………………………….184
Case-63 Juvenile Systemic Sclerosis…………………………………………………………..187
Case-64 Localized Scleroderma………………………………………………………………….189
Case-65 Mucopolysaccharidosis (Hurler disease)……………………………………….191
Case-66 Systemic Sclerosis with Mucopolysaccharidosis (Morquio Disease)……………………………………………...………………………..195
Case-67 Primary Immunodeficiency Disorder with Community Acquired Pneumonia with Herpes Labialis with UTI with Failure To Thrive…………………………………………………………………..200
Case-68 Primary Immune Deficiency disorder (Combined variable immunodeficiency) with septic arthritis of right knee joint…………..206
Case-69 Ehlers Danlos Syndrome (Probably Classical type)………………………..210
Case-70 Bardet Biedl syndrome…………………………………………………………………212
Case-71 Tetralogy of Fallot (TOF) with secondary malnutrition………………….214
Case-72 Ventricular septal defect with Heart failure………………………………….217
Case-73 Acute mild exacerbation of Asthma (mild persistent variety)……….219
Case-74 Bronchiectasis with acute exacerbation due to Cystic fibrosis………221
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Pediatric Case Diary
Case-75 Empyema thoracis due to pneumonia………………………………………..224 Case-76 Pulmonary Tuberculosis …………………………………………………………….227 Case-77 Right sided pleural effusion due to Tuberculosis………………………..229
Case-78 Congenital Nephrotic Syndrome…………………………………………………234
Case-79 Nephrotic Syndrome (1st attack)…………………………………………………236
Case-80 Acute Post Streptococcal Glomerulonephritis with Infected Scabies ………………………………………………………………………..238
Case-81 Rapidly Progressive glomerulonephritis due to HSP Nephritis……241
Case-82 Acute kidney injury due to wasp stings………………………………………244
Case-83 Chronic Kidney Disease (stage V) due to Posterior urethral valve with Failure to Thrive ……………………………………………………….247
Case-84 ESRD on maintenance hemodialysis with bilateral hypoplastic kidneys with acute stroke syndrome…………………………………………250
Case-85 Nephrogenic Diabetes Insipidus………………………………………………..253
Case-86 Disseminated Tuberculosis………………………………………………………..255
Case-87 Alport Syndrome with UTI…………………………………………………………259
Case-88 Acute Lymphoblastic Leukemia with Superior mediastinal syndrome with hyperleukocytosis…………………………………………….261
Case-89 Infantile Acute Lymphoblastic Leukemia (MLL unknown)………….264
Case-90 Acute Myeloid Leukemia with herpetic gingivo-stomatitis with hyperleukocytosis……………………………………………………………..266
Case-91 Acute Promyelocytic leukemia, t (15; 17) positive…………………….268
Case-92 Chronic Myeloid Leukemia (Chronic phase)………………………………271
Case-93 NHL (Lymphoblastic lymphoma stage III) with superior mediastinal syndrome ……………………………………………………………..274
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Pediatric Case Diary
Case-94 Non Hodgkin lymphoma (Diffuse Large B-cell type, Bone involvement, stage-III) with spinal cord compression……………….277
Case-95 Hodgkin Disease (mixed cellularity type, stage IB)…………………...280
Case-96 Non- Hodgkin Lymphoma (T lymphoblastic lymphoma, stage III)………………………………………282
Case-97 Very Severe Aplastic Anaemia………………………………………………….285
Case-98 Autoimmune hepatitis with Autoimmune hemolytic anemia…..286
Case-99 Auto immune hemolytic anemia……………………………………………..290
Case-100 Megaloblastic anaemia due to vit B12 deficiency with impending heart failure with Sub-acute Combined Degeneration of Spinal Cord……………………………………………………293
Case-101 Immune Thrombocytopenic Purpura………………………………………298
Case-102 Hepatocellular Carcinoma on the background of chronic liver disease due to chronic Hepatitis B………………………300
Case-103 Langerhans cell histiocytosis…………………………………………………..303
Case-104 Left sided chest wall Ewing Sarcoma with Pulmonary involvement (Pleural Effusion)……………………………..305
Case-105 Adrenocortical tumour…………………………………………………………..309
Case-106 Spastic quadriplegic Cerebral palsy with West Syndrome with global developmental delay with failure to Thrive………….312
Case-107 Wilson disease (with neurological manifestation and compensated CLD with Portal Hypertension)…………………..315
Case-108 Spastic quadriplegic cerebral palsy with West syndrome with global developmental delay……………………………………………318
Case-109 Tubercular meningitis (stage 2) with right sided hemiplegia with left sided lower motor neuron type of facial palsy………….321
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Pediatric Case Diary
Case-110 Disseminated TB (TBM with miliary TB) with communicating Hydrocephalus……………………………………………326
Case-111 Duchenne Muscular Dystrophy……………………………………………329
Case-112 Guillain Barre´ Syndrome…………………………………………………….332
Case-113 Tuberous Sclerosis Complex with Epilepsy with Polycystic Kidney Disease……………………………………………………334
Case-114 Acute Stroke Syndrome………………………………………………………337
Case-115 Tetralogy of Fallot with Brain Abscess………………………………..340
Case-116 Acute encephalitis most probably due to HSV……………………343
Case-117 Acute Disseminated Encephalomyelitis (ADEM)…………………345
Case-118 Juvenile Myasthenia Gravis………………………………………………..347
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Pediatric Case Diary
CASE-1
Presenting Complaints:
o Yellow discoloration of whole body since birth.
o Passage of pale stool and dark urine for same duration.
Case Summary:
XX, 2 ½ month old female baby, only issue of her non-consanguineous parents hailing from Cox’s Bazar, got admitted with the complaints of jaundice, passage of persistent pale stool and dark colored urine since birth. There was no H/O delayed passage of meconium, vomiting, lethargy, poor feeding, convulsion, sib death or family history of liver disease and no H/O bleeding manifestation. Her mother had no history of fever and rash during 1st trimester of pregnancy. She was born by NVD at term with normal birth weight. On examination- she was playful, afebrile, no facial dysmorphism present. She was moderately pale, icteric, vitals: Normal. Anthropometrically, she was well thriving. On Alimentary system examination: Hepatomegaly (7 cm) was present. Others systemic examinations revealed no abnormality.
Fig: Pale stool Fig: Stool card to identify pale stool
Provisional Diagnosis: Neonatal Cholestasis most probably due to Biliary Atresia.
8
Pediatric Case Diary
Points in favor For Neonatal Cholestasis Points in favor for Biliary Atresia
From history: From history: - Jaundice since birth - Persistent pale stool -Dark urine - Dark urine - Term baby. - Pale stool - Well thriving. On examination: - No family history of liver disease - Icteric On examination: - Hepatomegaly present - Icteric - Hepatomegaly present
Differential Diagnosis:
Idiopathic Neonatal Hepatitis
Points in favor Points against - Jaundice since birth - Persistent pale stool - Dark urine - Term baby - Hepatomegaly present - Well thriving
Plan of Investigations:
To establish cholestasis: o Fractionated S. bilirubin To establish liver injury: o S.ALT o γ-GT o AST Liver Function Test: o PT with INR Conditions requiring immediate treatment: o CBC with PBF o Urine R/M/E and C/S o TORCH screening o Urine for reducing substance
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Pediatric Case Diary
o FT4 and TSH To differentiate extra and intrahepatic cause: o USG of HBS (special attention to see contraction of Gall bladder before and after feeding. o Hepatobiliary Scintigraphy o Liver biopsy Others : Eye evaluation
Investigations:
Serum bilirubin Total - 11.3 mg/dl Direct - 7.2 mg/dl Prothrombin Time PT-12 sec (12-16sec) INR INR-1.01 S. ALT 107 U/L γ-GT >1543 U/L CBC Hb : 8.9 gm/dl ESR : 15 mm in 1st hr WBC : 18,000/cumm DC : N- 38%, L- 56%, M- 06% Platelet : 4,60,000/cumm PBF Microcytic hypochromic anaemia Urine R/M/E Protein- Nil Reducing sub - Nil Pus cell- 0-2 /HPF Epithelial cell 0-2/ HPF Urine C/S No growth. Thyroid function TSH: 3.42 µIU/L FT4 : 14.66 ng/dL TORCH screening Anti-HSV1 IgM: Negative. Anti-HSV2 IgM: Negative. Anti-CMV IgM: Negative Ophthalmoscopic evaluation No abnormality found. USG of Hepatobiliary system Liver normal in size with homogeneous in echotexture. No focal lesion seen. Intrahepatic biliary channel not dilated. CBD not dilated. Gallbladder: could not be visualized.
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Pediatric Case Diary
Triangular cord sign-positive (5mm) Comment: Features suggestive of biliary atresia. Hepatobiliary Scintigraphy - Liver mildly enlarged in size showing homogenous tracer concentration. - Cardiac blood pool activity seen persisting up to 30 minutes image. - Gall bladder and bile ducts not visualized. - Tracer activity within the bowel loops not visualized in the delayed views. - No significant washout of hepatic activity seen after 24 hours. Liver Biopsy - Periportal inflammation. - Bile ductular proliferation. - Presence of bile pigment.
Fig: Hepatobiliary Scintigraphy. No tracer activity in gut lumen.
Final Diagnosis: Neonatal Cholestasis due to Biliary Atresia.
11
Pediatric Case Diary
CASE-2
Presenting Complaints:
o Yellow discoloration of skin and sclera since 7 days of age.
o Passage of pale stool and dark urine for same duration.
Case Summary:
XY, 1 month 20 days old boy, 2nd issue of his non-consanguineous parents got admitted with the complaints of jaundice, dark urine, intermittent pale stool since 7 days of his age. Mother’s antenatal period was uneventful. Baby was born by LUCS at 36th week with low birth weight and his postnatal event was uneventful. There was no H/O delayed passage of meconium, bleeding manifestation, vomiting, lethargy, poor feeding, convulsion, sib death or family history of such type of illness. On examination- he was well alert, deeply icteric, no facial dysmorphism, vitals were stable and anthropometrically well thriving. On Alimentary system examination, hepatomegaly (4 cm) was present. Other systemic examinations revealed no abnormality.
Fig: Icteric baby
Provisional Diagnosis: Neonatal Cholestasis most probably due to Idiopathic Neonatal Hepatitis.
12
Pediatric Case Diary
Points in favor for Neonatal Cholestasis
➢ Jaundice since 7 days of age. ➢ Dark urine ➢ Pale stool ➢ Icteric ➢ Hepatomegaly present
Points in favor for Idiopathic Neonatal Hepatitis Points against
History: Well thriving. ➢ Male child. ➢ Intermittent passage of pale stool. ➢ Pre-term baby. ➢ Low birth weight. On Examination: ➢ Icteric, Hepatomegaly present
Differential Diagnosis: Neonatal Cholestasis due to Biliary Atresia
Points in favor for Biliary Atresia Points in against
➢ Jaundice since 7 days of age. ➢ Male child. ➢ Dark urine. ➢ Pre-term baby. ➢ Pale stool. ➢ Low birth weight. ➢ Icteric. ➢ Intermittent pale stool. ➢ Hepatomegaly present.
Plan of Investigations:
To establish cholestasis: o Fractionated S. bilirubin To establish liver injury: o S.ALT o γ-GT o AST
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Pediatric Case Diary
Liver Function Test: o PT with INR Conditions requiring immediate treatment: o CBC with PBF o Urine R/M/E and C/S o TORCH screening o Urine for reducing substance o FT4 and TSH To differentiate extra and intrahepatic cause: o USG of HBS (special attention to see contraction of Gall bladder before and after feeding. o Hepatobiliary Scintigraphy o Liver biopsy Others : Eye evaluation Investigations:
Serum bilirubin Total- 12.2 mg/dl Direct- 8.29 mg/dl Prothrombin Time PT- 14.9 sec ( 12-16sec) INR INR-1.21 S. ALT 317 U/L γ-GT 820 U/L CBC Hb : 13 gm/dl ESR : 20 mm in 1st hr WBC : 12,000/cumm DC : N- 46%, L- 47%, M- 06%, E- 01% Platelet : 2,00,000/cumm Urine R/M/E Reducing sub - Nil Other findings : Normal. Urine C/S No growth. Thyroid function TSH:3.49 µIU/L FT4: 1.62 ng/dL TORCH screening Anti-Toxoplasma IgM and IgG : Negative Anti-CMV IgM and IgG : Negative. Anti-HSV IgM and IgG: Negative. Anti-Rubella IgM and IgG: Negative.
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Pediatric Case Diary
Ophthalmoscopic evaluation No abnormality found. USG of Hepatobiliary system Mild hepatomegaly with contracted GB. Cholescintigraphy Uptake of radiotracer was poor but excretion occurred in lumen of intestine within 24 hour. Liver Biopsy - Liver architechture: distorted. - Chronic inflammatory cell infiltration and giant cell transformation present. - No bile ductular proliferation.
Final Diagnosis: Neonatal Cholestasis due to Idiopathic Neonatal Hepatitis.
15
Pediatric Case Diary
CASE-3
Presenting Complaints:
o Yellow discoloration of skin and sclera since 10 days of age.
o Passage of pale stool and dark urine for same duration.
Case Summary:
XY, 1-month old boy, 2nd issue of his consanguineous parents got admitted with the complaints of jaundice, passage of dark urine, intermittent pale stool since 7 days of his age. Mother’s antenatal period was uneventful. Baby was born by LUCS at 36th week with low birth weight and his postnatal event was uneventful. There was no H/O delayed passage of meconium, bleeding manifestation, vomiting, lethargy, poor feeding, convulsion, sib death or family history of such type of illness. On examination- he was well alert, icteric, no facial dysmorphism present, vitals were stable and anthropometrically well thriving. Urine for reducing substance was positive (brick red) in 3 samples and urine dipstick test for glucose was negative. On Alimentary system examination, hepatomegaly (4 cm) was present. Other systemic examinations revealed no abnormality.
Fig: Benedict test Fig: Interpretation of color change in Benedict test (Brick red) –our case
Provisional Diagnosis: Neonatal Cholestasis most probably due to Galactosemia.
16
Pediatric Case Diary
Points in favor for Neonatal cholestasis ➢ Jaundice since 10 days of age. ➢ Dark urine ➢ Pale stool ➢ Icteric ➢ Hepatomegaly present
Points in favor for Galactosemia Points against ➢ Consanguinity No cataract ➢ Urine for reducing substance was positive (brick red) in 3 samples and urine dipstick test for glucose was negative
Differential Diagnosis: Neonatal Cholestasis due to Idiopathic neonatal hepatitis Points in favor Points against for Idiopathic Neonatal Hepatitis History: Well thriving. ➢ Male child. ➢ Passage of intermittent pale stool. ➢ Preterm. ➢ low birth weight. On Examination: ➢ Icteric, Hepatomegaly present
Plan of Investigations:
To establish cholestasis: o Fractionated S. bilirubin To establish liver injury: o S. ALT, γ-GT, AST Liver Function Test: o PT with INR Conditions requiring immediate treatment: o CBC with PBF o Urine R/M/E and C/S o TORCH screening
17
Pediatric Case Diary
o Urine for reducing substance o FT4 and TSH To differentiate extra and intrahepatic cause: o USG of HBS (special attention to see contraction of Gall bladder before and after feeding. o Hepatobiliary Scintigraphy o Liver biopsy Others : Eye evaluation Investigations:
Serum bilirubin Total- 8.2 mg/dl, Direct- 6.5 mg/dl Prothrombin Time PT- 15.2 sec ( 12-16sec) INR INR-1.27 S. ALT 345 U/L γ-GT 652 U/L CBC Hb :12 gm/dl, ESR : 30 mm in 1st hr WBC : 11,000/cumm DC : N- 42%, L- 51%, M- 06%, E- 01% Platelet : 1,50,000/cumm Urine R/M/E Reducing substance - positive (brick red) Other findings : Normal. Urine C/S No growth. Thyroid function TSH:2.40 µIU/L , FT4: 1.60 ng/dL TORCH screening Anti-Toxoplasma IgM and IgG : Negative Anti-CMV IgM and IgG : Negative. Anti-HSV IgM and IgG: Negative. Anti-Rubella IgM and IgG: Negative. Ophthalmoscopic evaluation No abnormality found. USG of Hepatobiliary system Mild hepatomegaly with contracted gallbladder. Cholescintigraphy Uptake of radiotracer was poor but excretion occurred in lumen of intestine within 24 hour. Liver Biopsy - Liver architechture distorted. - Chronic inflammatory cell infiltration and giant cell transformation was present. - No bile ductular proliferation.
Final Diagnosis: Neonatal cholestasis due to Galactosemia
18
Pediatric Case Diary
CASE-4
Presenting Complaints:
o Yellow discoloration of skin and sclera since 3 days of age.
o Passage of pale stool and dark urine for same duration.
Case Summary:
XY, 45-day old male baby, only issue of his non-consanguineous parents hailing from Gazipur, presented with the complaints of jaundice, passage of intermittent pale stool and dark urine since 3 days of age. Mother gave H/O delayed passage of meconium, lethargy, constipation but there was no H/O convulsion, vomiting, sib death, family history of liver disease or any bleeding manifestation. Her mother had no history of fever and rash during 1st trimester of pregnancy or any H/O thyroid disease. He was born by LUCS at term with normal birth weight. On examination- he was ill looking, afebrile, no facial dysmorphism present. He was mildly pale, deeply icteric, umbilical hernia present, vitals within normal limit. Anthropometrically, age appropriate. On Alimentary system examination: Hepatomegaly (2 cm) was present. Others systemic examinations revealed no abnormality.
Fig: Umbilical hernia
Provisional Diagnosis: Neonatal Cholestasis most probably due to Congenital Hypothyroidism
19
Pediatric Case Diary
Points in favor for Neonatal Cholestasis
➢ Jaundice since 3 days of age. ➢ Dark urine. ➢ Pale stool. ➢ Icteric. ➢ Hepatomegaly present
Points in favor for Congenital Points against Hypothyroidism ➢ Delayed passage of meconium. ➢ Mother had no H/O thyroid ➢ Lethargic. disease. ➢ Umbilical hernia present. ➢ No facial dysmorphism. ➢ Skin survey normal.
Differential Diagnosis: Neonatal Cholestasis due to Idiopathic Neonatal Hepatitis. Neonatal Cholestasis due to Billiary Atresia.
Points in favor for Idiopathic Neonatal Points in against Hepatitis
➢ Intermittent pale stool ➢ Term baby ➢ Hepatomegaly present ➢ Well thriving
Points in favour for Billiary Atresia Points in against ➢ Term baby Intermittent pale stool ➢ Well thriving ➢ Hepatomegaly present
Plan of Investigations:
To establish cholestasis:
20
Pediatric Case Diary
o Fractionated S. bilirubin To establish liver injury: o S.ALT o γ-GT o AST Liver Function Test: o PT with INR Conditions requiring immediate treatment: o CBC with PBF o Urine R/M/E and C/S o TORCH screening o Urine for reducing substance o FT4 and TSH To differentiate extra and intrahepatic cause: o USG of HBS (special attention to see contraction of Gall bladder before and after feeding. o Hepatobiliary Scintigraphy o Liver biopsy Others : Eye evaluation Investigations:
Serum bilirubin Total- 11.3 mg/dl Direct-7.2 mg/dl Prothrombin Time PT-12 sec ( 12-16sec) INR INR-1.01 S. ALT 74 U/L S. AST 207 U/L γ-GT >560 U/L CBC Hb : 10 gm/dl ESR : 10 mm in 1st hr WBC : 10,000/cumm DC : N- 33%, L- 57%, M- 08%, E- 02% Platelet : 1,30,000/cumm PBF Normocytic normochromic anaemia
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Pediatric Case Diary
Urine R/M/E Protein- Nil Reducing sub - Nil Pus cell- 0-2 /HPF Epithelial cell 0-2/ HPF CRP 5 mg/L. Thyroid function TSH: 7.11 µIU/L FT4 : 15.28 pmol/L TORCH screening Anti-HSV1 IgM: Negative. Anti-HSV2 IgM: Negative. Anti-CMV IgM: Negative Ophthalmoscopic evaluation Ant. Seg: Yellow colorization of conjunctiva of both eyes. Post. Seg: Chorioretinal changes in both eyes. USG of Hepatobiliary system Liver: Enlarged in size with homogeneous in echotexture. Intrahepatic biliary channel not dilated. CBD not dilated. Gallbladder: Wall thickened, echogenic sludge within it. GB contraction present after meal. Before meal: 0.85 cc, After meal: 0.18 cc.
Cholescintigraphy Uptake of radiotracer was poor but excretion occurred in lumen of intestine within 24 hour.
Final Diagnosis: Neonatal Cholestasis due to Sub Clinical Hypothyroidism.
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Pediatric Case Diary
CASE-5 Presenting Complaints:
o Swelling of both legs for last 14 days. o Patchy pigmentation of skin with hypopigmented areas all over the body and desquamation over neck and inguinal region for same duration.
Case Summary: XX, 7 ½ month old girl, 3rd issue of non consanguineous parents, belonging to low socioeconomic background, hailing from Narayangonj got admitted with the complaints of swelling of both legs for last 14 days and patchy pigmentation of skin with hypopigmented areas all over the body and desquamation over neck and inguinal region for same duration. Mother gave history of not growing well since 3 months of age. She had no history of fever, cough, respiratory distress, diarrhoea, urinary problem, jaundice, convulsion and contact with TB patient. Gross feeding mismanagement was present since three months of age and daily calorie deficit was 543 Kcal. Her developmental assessment showed motor delay.
On examination, she was conscious, edematous, irritable, mildly pale, hair was thin, sparse and brown. Flaky paint dermatosis and bilateral edema present. Vitals were within normal limit. She was severely underweight, her MUAC was 105 mm. Other systemic examinations revealed normal findings.
Provisional Diagnosis: Severe Acute Malnutrition with Dermatosis.
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Pediatric Case Diary
Severe Acute Malnutrition Points in favor (for Severe Acute Malnutrition with Dermatosis): (WHO guideline) - Bipedal Edema - MUAC :105 mm Marasmic Kwashiorkor (Welcome classification) - Weight for age (% of median): 53.79% - Edema Severe malnutrition or 3rd degree malnutrition (Gomez classification) - Weight for age (% of median): < 60 % (pt. had 53.7%)
Investigations:
CBC Hb:9.5gm/dl ESR: 10 mm in 1st hour Total count of WBC : 16,000/cmm DC : N- 48%, L- 36% Platelets : 2,30,000 /cmm PBF RBC: Normochromic normocytic WBC: Neutrophilic leucocytosis Platelet : Normal Urine R/E Protein : Nil Sugar : Nil Pus cell : 40-50 /HPF RBC : Nil Urine C/S Growth of E. Coli seen Blood sugar 5.5 mmol/l
Final Diagnosis: Severe Acute Malnutrition with Dermatosis with UTI
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Pediatric Case Diary
Fig: At Day-8
Other cases of SAM :
Case: 1(Marasmus) Case: 2 and 3(Kwashiorkor)
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Pediatric Case Diary
CASE-6
Presenting Complaints:
o Gradual abdominal distension and weight loss for 2 months. o H/O melena 2 months back.
Case Summary:
XY, 1-year old boy, partially immunized, 2nd issue of consanguineous parents hailing from Gazipur got admitted with the complaints of gradual abdominal distension and weight loss for 2 months, associated with fever, anorexia and vomiting. He had h/o melena since beginning of illness followed by passage of greenish stool. Mother also gave h/o weight loss. He received 2 units of packed RBC transfusion, Inj. human albumin 2 times for this illness.
He had h/o delayed passage of meconium and constipation since birth. He used to defecate with Glycerine suppository. There was no h/o, cough, taking cowꞌs milk, contact with TB patient, diarrhoea, hoarse cry, repeated RTI and family h/o such type of illness. On examination – he was ill looking, irritable, sparse hair, mildly pale, BCG mark present, no lymphadenopathy, bipedal edema present, vitals- Temp: 98˚F, Pulse: 120/min, RR: 28/min, anthropometry- length: 72cm ( on 10th centile), weight: 7.3kg (WLZ: -4.5), MUAC: 110mm. Alimentary system examination revealed distended abdomen, hepatomegaly present, no oral ulceration and ascites. D/R/E: Rectum empty and gripping of examining finger, ribbon- like stool passed. Other systemic examinations revealed no abnormality.
Provisional Diagnosis:
Hirschsprung disease with secondary severe acute malnutrition.
Hirschsprung disease Severe acute malnutrition
Points in favor: Points in favor: Male child, term baby Irritable Constipation since birth Sparse hair H/O assisted defecation WLZ: -4.5 Abdominal distension MUAC: 110 mm D/R/E: Suggestive of Hirschsprung Bipedal edema disease. Hepatomegaly present Malnutrition
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Pediatric Case Diary
Differential diagnosis: 1. Intestinal TB with secondary severe acute malnutrition 2. Celiac disease with secondary severe acute malnutrition 3. Functional constipation with secondary severe acute malnutrition
Intestinal TB
Points in favor Points against • Constipation • Constipation since birth • Abdominal distention • No h/o prolong fever • Vomiting, anorexia • No h/o contact with TB pt • Weight loss • BCG mark present • D/R/E finding.
Celiac disease
Points in favor Points against • Abdominal distention • Constipation since birth • Vomiting, anorexia • No oral ulceration • Wt loss • No features of arthritis • Malnutrition • D/R/E finding
Functional constipation
Points in favor Points against • Constipation • Constipation since birth • Abdominal distention • Malnutrition • D/R/E finding Investigations:
CBC Hb : 10.5 g/dl TC of WBC : 16 х 10⁹/L DC : N- 23%, L- 64%, Platelet : 400 х 10⁹/L ESR- 05 mm in 1st hr PBF Microcytic hypochromic anaemia
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Pediatric Case Diary
MT 2 mm in diameter CXR Normal Plain X-ray abdomen in erect posture Distended bowel loop with gas shadow tTG-IgA 90.5 u/ ml Endoscopy of upper GIT with Histopathology Multiple haemorrhagic spots seen in mucosa of fundus, body and antrum Histopathology Chronic duodenitis. CBG 3.5 mmol/l Urine for reducing substance Nil Eye evaluation Normal Liver function test S. ALT: 8 U/L PT : 20.3 sec INR : 1.7 sec S. albumin: 22 gm/L Contrast medium enema of large gut Moderate degree of dilatation of rectum and gross dilatation of sigmoid colon, descending colon and transverse colon. A radiolucent band noted in the recto- sigmoid region, likely to be aganglionic band. Post evacuation film at 24 hr showed retained contrast medium in the whole gut. Comment: Suggestive of Hirschprung disease.
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Pediatric Case Diary
Plain X-ray abdomen in erect posture: Fig: Barium enema (Suggestive of Distended bowel loop with gas shadow. Hirschprung disease)
Fig: Barium enema (Post evacuation at 24 hrs)
Final Diagnosis: Hirschsprung disease with secondary severe acute malnutrition.
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Pediatric Case Diary
Pictures of another case
Fig: Distented abdomen Fig: Dilated rectum and sigmoid colon
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Pediatric Case Diary
CASE-7
Presenting Complaints:
o Not growing well since 2½ months of her age. o Persistent passage of frequent loose stool for same duration.
Case Summary: XX, 6-month 18 days old girl, hailing from Cox’s Bazar, got admitted with the history of not growing well since 2½ months of her age and persistent passage of frequent loose stool which was foul smelling but not greasy for same duration. At her 35 days of age, she developed intestinal obstruction and had undergone laparotomy on 2 occasions with resection of large portion of intestine. She had no h/o fever, cough, respiratory distress, vomiting etc. For this illness, she had been hospitalized repeatedly and treated with IV fluids, potassium, antibiotics, multivitamins, Inj. B12 and zinc.
On examination she was alert, active, but had wizened look, baggy pant appearance. She was mildly pale, afebrile, other vitals within normal limits, severely underweight, wasted and moderately stunted, MUAC: 85 mm. There were two transverse scar marks in right side of abdomen. There was no organomegaly and other system examinations revealed no abnormalilty.
Provisional Diagnosis:
Severe acute malnutrition secondary to short bowel syndrome.
Points in favor for Severe acute malnutrition: o H/O not growing well o Wizened look o Baggy pant appearance o Severely wasted, underweight, stunted (WLZ: -5.6) o MUAC: 85 mm
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Pediatric Case Diary
Fig 1: Baggy pant appearance Fig 2: Scar mark of laparotomy
Points in favor for Short bowel syndrome - H/O gut resection. - H/O loose motion. - Foul smelling stool. - Not growing well since surgery.
Investigations:
CBC Hb% : 11.5 gm/dl TC of WBC : 12,000/cmm DC of WBC : N-27%, L-65%,M-4%, E- 4% Platelet count : 4,65,000/cmm ESR : 10 mm in 1st hour PBF RBC: Normocytic normochromic. Leukocytosis with thrombocytosis. Urine R/E Normal
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Pediatric Case Diary
S. Electrolytes Na+: 138 mmol/L K + : 3.6 mmol/L Cl- : 101 mmol/L TCO2 : 28 mmol/L PT PT : 12.0 sec (control 11.8s) INR INR : 1.01 S. Vitamin D 25.8 ng/ml Stool R/E Normal Stool C/S No growth. Fecal fat analysis 14-15 droplets/hpf (negative).
Final Diagnosis: Severe acute malnutrition secondary to short bowel syndrome
Fig: Our case during Discharge
33
Pediatric Case Diary
CASE-8
Presenting Complaints:
o Fever for 1½ months. o Jaundice for 1 month. o Abdominal distension for 20 days.
Case Summary:
XY, 2½ year old boy, immunized, 2nd issue of non consanguineous parents, hailing from Gazipur, came with the complaints of fever for 1½ months, jaundice for 1 month, and gradual abdominal distension for 20 days. Fever was low grade and continued in nature, not associated with chills and rigor, temperature was not recorded, subsided spontaneously or by taking anti-pyretics. There was history of melena (2 episodes), 15 days back. Mother also noticed altered sleep pattern for last 2 days. He had no history of taking any offending drugs, blood transfusion, IV drug use, major or minor trauma, surgery, deterioration of school performance or contact with TB patient. For this illness, he was treated with several medications, but his condition did not improve.
On examination – he was lethargic, mildly pale, and moderately icteric. Among vitals, he was febrile (Temp-102 ºF), pulse-120b/min, both systolic and diastolic BP were <5th centile, Anthropometry within normal limit. BSUA-nil. Abdomen examination revealed tender hepatomegaly with just palpable spleen and presence of ascites.
Provisional Diagnosis: Acute hepatitis with hepatic encephalopathy stage- I.
Points in favor Points against 1. Fever. 1. Anaemia. 2. Short h/o jaundice. 2. Ascites. 3. Pt. was lethargic. 3. Splenomegaly. 4. Tender hepatomegaly present. 5. H/O altered sleep pattern. 6. No stigmata of CLD.
Differential Diagnosis:
• CLD with Portal HTN. • Lymphoma. • Abdominal tuberculosis.
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Pediatric Case Diary
CLD with Portal HTN
Points in favor Points against 1. Jaundice. 1. No stigmata of CLD. 2. Ascites. 3. Anaemia. 4. H/O Melena. 5. Hepatosplenomegaly.
Lymphoma
Points in favor Points against 1. Short history. 1. No h/o weight loss. 2. Ascites. 2. No lymphadenopathy. 3. Anaemia. 3. No abdominal pain. 4. Hepatosplenomegaly. 4. No drenching night sweat. 5. No breathing difficulty.
Abdominal tuberculosis
Points in favor Points against: 1. Fever. 1. No h/o contact with TB patient. 2. Hepatosplenomegaly. 2. No H/O weight loss, altered bowel habit. 3. Ascites. 3. Vaccinated patient. 4. Anaemia. 4. Jaundice present.
Investigation Profile
CBC Hb %- 8.4 gm/dl. ESR – 10 mm in 1st hour. TC of WBC -15,000/cumm. DC: N- 38%, L- 55%, M- 05%,E- 02% PLT – 342,000/cumm. MCV -71.8 fl. MCH – 20.4 pg. MCHC – 28.5 g/dl. LFT S. Bilirubin : T- 16.0 mg/dl
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Pediatric Case Diary
D- 0.3 mg/dl ALT: 342 U/L. ALP: 142 U/L. S. Albumin:3.8 gm/dl. PT: 22 sec, INR: 1.92 (At admission) PT: 20 sec, INR: 1.7 (After Inj.Vit-K) Viral Markers Anti HAV IgM: Positive. Anti HEV IgM: Negative. S. Electrolytes Na+ : 133mmol/l K + : 4.6 mmol/l Cl – : 106 mmol/l Urine R/M/E Pus cell: 2-5/HPF. RBC: Nil. S. Creatinine 0.5 mg/dl. Chest X-Ray P/A view Normal. USG of HBS 1. Slightly coarse hepatic parenchyma. 2. Right sided pleural effusion. 3. Thick gall bladder.
Final Diagnosis: Acute Liver Failure due to HAV with Hepatic Encephalopathy stage- I.
Fig: During admission (a) and after treatment (b)
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Pediatric Case Diary
CASE-9
Presenting Complaints:
o Yellowish discoloration of skin and sclera for 7 days. o Fever for 9 days. o Abdominal pain, nausea, vomiting for same duration.
Case Summary: XY, 10-year old male child, fully immunized, 7th issue of non-consanguineous parents hailing from Munshigonj got admitted with the complaints of yellowish discoloration of skin and sclera for 7 days, low grade continued fever for 9 days and abdominal pain, nausea, vomiting for same duration. He had h/o taking street food. Mother gave no h/o bleeding from any site, no previous h/o jaundice, taking any offending drugs, blood and blood products transfusion, IV drug use, any type of surgery, abnormal behaviour, sib death and same type of illness in his family member. For this illness, he was treated with several injectable medications, but his condition did not improve. On examination – he was irritable, drowsy, moderately pale, deeply icteric, skin survey normal, BCG mark present, temp. 102°F, pulse 104 b/m, BP 90/55 mm of Hg, wt: 21 Kg (WAZ -2.8SD), Ht. 129cm (between 3rd and 5th centile), BMI: 15kg/m² (between 10th and 25th centile). Alimentary system examination: tender hepatomegaly present. Other system examinations revealed no abnormality.
Provisional Diagnosis: Acute viral hepatitis with hepatic encephalopathy (stage1)
Points in favor Points against 1. Fever. 1. Anaemia 2. Short h/o Jaundice. 2. Ascities. 3. Tender hepatomegaly. 3. Splenomegaly 4. Lethargy
Differential Diagnosis: Lymphoma Points in favor Points against 1. Short history. 1. No h/o weight loss. 2. Ascites 2. No lymphadenopathy 3. Anaemia 3. No abdominal pain. 4. Hepatosplenomegaly 4. No drenching night sweat 5. No breathing difficulty.
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Pediatric Case Diary
Abdominal tuberculosis Points in favor Points against 1. Fever 1. No h/o contact with TB patient. 2. Hepatosplenomegaly. 2. No H/O weight loss, altered bowel habit. 3. Ascities. 3. Pt is vaccinated. 4. Anaemia 4. Jaundice present
Investigations:
CBC Hb- 5.4 gm/dl ESR- 25 mm in 1st hour TC of WBC- 35,000/cumm DC: N- 76%, L- 12%, M- 03%, E- 05% Platelet : 420,000/ cumm PBF RBC: Anisocytosis with anisochromia including RBC and some polychromatic cells noted. WBC: Increased mild shift to left including metamyelocye and myelocyte. PLT: Normal Comment: Leukaemoid reaction with leucoerythroblastic blood picture. LFT ALT- 4100 U/L PT – 14 sec, INR – 1.16 S. bilirubin (Total) – 43.78 mg/dl Direct bilirubin – 22.12 mg/dl Indirect bilirubin – 21.66 mg/dl S. albumin- 3.1 gm/dl Viral Markers Anti HAV- IgM: Positive Anti HEV IgM: Negative
Management: Counseling Diet: Normal Inf. 5% Dextrose in 0.45% NS Inj. Cefotaxime (60mg/kg/day) – 8 hrly Inj. Flucloxacillin (60 mg/kg/day)- 6 hrly Syp. Metronidazole (10 mg/kg/dose)- 8 hrly Syp. Lactulose- 8 hrly Inj. Ranitidine- 12 hrly Inj. 20% Mannitol- 8 hrly Syp. Ursodeoxycholic acid (15 mg/kg/d)- 12 hrly 38
Pediatric Case Diary
Syp. Zinc Syp. Vit-C Lactulose enema (when required) F/Up on D-2 Appearance- Drowsy, puffy face Intake: 1500 ml Output: Nil S. electrolytes: Na+:127.2 mmol/l, K+: 3.2 mmol/l, Cl- : 105.1 mmol/l S. creatinine: 4.8 mg/dl
Final Diagnosis: Acute viral hepatitis (HAV) with AKI (failure pattern)
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Pediatric Case Diary
CASE-10
Presenting Complaints: o Yellowish discoloration of skin and sclera for 20 days. o Fever for 20 days. o Loss of appetite for same duration.
Case Summary: XY, 10-year old boy, 1st issue of non consanguineous parents, hailing from Feni, known case of Thalassemia trait got admitted with the complaints of yellowish discoloration of skin and sclera for 20 days which was gradually increasing, irregular low grade fever and loss of appetite with occasional vomiting for same duration. He had H/O documented jaundice 1 year back. There was no H/O taking street food, blood and blood products transfusion, umbilical infection or catheterization, taking any offending drugs, sib death or liver disease in the family, hematemesis or melena, altered sleep pattern. On examination- he was alert, co-operative, mildly pale, deeply icteric, BCG mark present, vitals were within normal limit. Anthropometrically: normal, BSUA- nil. Hepatosplenomegaly with ascites was present.
Fig: Icteric child Fig: High color urine
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Pediatric Case Diary
Provisional Diagnosis: Acute Hepatitis (possibly Viral) with Thalassemia Trait.
Points in favor Points against - Yellowish discoloration of skin, sclera - H/O documented jaundice 1 year back and urine for 20 days. - Liver: non tender - Irregular low grade fever for 20 days. - Loss of appetite with occasional vomiting for same duration. - Icteric. - Hepatosplenomegaly and ascites present.
Differential diagnosis: CLD with Thalassemia Trait Points in favor Points against - Yellowish discoloration of skin, sclera - No other stigmata of CLD (palmer and urine for 20 days. erythema, clubbing, leukonychia, spider - H/O documented jaundice 1 year back. angioma etc.) - Icteric. - Hepatosplenomegaly and ascites present.
Investigations: CBC Hb- 8.8 gm/dl, ESR- 5 mm in 1st hour TC of WBC- 11000/cumm DC: N- 69%, L- 23%, M- 03%, E- 05% Platelet : 400,000/ cumm MCV- 54 fl (85-95 fl) MCH- 18 pg (26-32 pg) MCHC- 34 g/dl (31-35 g/dl) PBF Red cells showing mild hypochromia with anisopoikilocytosis, microcytes and target cells present. LFT S. bilirubin(T): 35.3 mg/dl (03.06.16), S. ALT: 998 U/L(03.06.16) PT-12 sec, INR-1.08 S. albumin- 35gm/L Viral Markers Anti HAV IgM- negative Anti HEV IgM- negative
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Pediatric Case Diary
Anti HBs- positive Anti HCV- negative For Wilson disease Screening S. ceruloplasmin-48mg/dl (20-60 mg/dl) Urine copper- 115 mcg/day Penicillamine Challenge test- 1146 mcg/day Slit Lamp examination of eye- No K-F ring Auto-immune markers Anti LKM 1 - 2.15U/ml (negative) ANA- 7 U/ml (negative) S. IgG- 9.42gm/L (7-16 g/dl) TTG 12.5 U/ml (negative) S. electrolytes S. Na(+) : 136mmol/L, S. K(+): 4 mmol/L RBS 5.1 mmol/l USG of whole abdomen Liver: enlarged in size, parenchymal echogenicity reduced, periportal echogenicity increased, intrahepatic biliary channels. CBD: not dilated. Spleen: enlarged in size. Comment- suggestive of hepatitis. Upper GI endoscopy Normal.
Final Diagnosis: Acute viral Hepatitis (Non A-E) with Thalassemia Trait.
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Pediatric Case Diary
CASE-11
Chief Complaints:
o Yellow discoloration of skin and sclera for 4 months. o Gradual distension of abdomen for 2 months.
Case Summary:
XY, 12-year old immunized boy except HBV, 3rd issue of non consanguineous parents, presented with jaundice for 4 months, gradual abdominal distension for last 2 months. Mother also mentioned about swelling of ankles for same duration. He had h/o fever, anorexia, nausea, vomiting, right upper abdominal pain, and generalized weakness during initial period. There was no history of previous jaundice, blood transfusion, surgical procedure, h/o taking offending drugs, no family h/o liver disease or neuropsychiatric manifestations, bleeding manifestations, behavioral abnormality, altered consciousness or convulsion. On examination, he was ill looking, mildly pale, deeply icteric, edema present. Vitals and anthropometry were within normal limit. There was no lymphadenopathy, BCG mark was present. Abdominal examination revealed hepatosplenomegaly and ascites present. Other systemic examinations revealed normal findings.
Fig: Icteric child
Provisional Diagnosis: Chronic liver disease with portal hypertension due to HBV infection
43
Pediatric Case Diary
Differential Diagnosis:
CLD with portal HTN due to
• Wilson Disease • Autoimmune hepatitis Points in favor Points against Chronic liver disease: Short duration <6 months. - Icteric No other stigmata of CLD. - Edema present - Hepatosplenomegaly - Ascites
Portal HTN: - Splenomegaly and ascites No hematemesis and melena
Viral Hepatitis
Points in favor Points against Icteric No family history. Hepatomegaly No h/o blood transfusion or i/v drugs or Not vaccinated against HBV surgery.
Wilson disease
Points in favor Points against Icteric Non-consanguineous parents, Pallor No family history. Hepatosplenomegaly Ascites Auto-immune hepatitis
Points in favor Points against Icteric Male child Pallor No family history autoimmune disease Ascites No joint pain Hepatosplenomegaly
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Pediatric Case Diary
Investigations plan on admission
CBC with PBF
Liver function test
To identify cause of CLD:
◦ Viral screening
◦ Wilson disease screening
◦ Autoimmune screening
◦ Renal function tests
◦ S. Electrolytes
◦ USG of whole abdomen
◦ Endoscopy of upper GIT
Investigations
CBC Hb: 10 gm/dl ESR: 25 mm in 1st hour WBC: 5,000/cmm DC: N- 52%, L- 34%, M: 10%, E: 04% Platelet: 1,31,000/cmm PBF Non specific findings. LFT S. Bilirubin : 20.6 mg/dl ALT: 227 U/L Alk. Phosphatase: 266 U/L PT : 44.6 sec, INR: 3.74 PT (After Vit.K)18.10 sec, INR: 1.51 S. Albumin: 20 gm/L Viral Markers HBsAg : Positive HBeAg : Negative AntiHBe : Positive AntiHEV-IgM : Negative S. Electrolytes Na+ : 137 mmol/ltr K+ : 2.9 mmol/ltr Cl- : 102 mmol/ltr S. Creatinine 0.6 mg/dl
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Pediatric Case Diary
Urine R/E Normal. Wilson Screening S. Ceruloplasmin : 22 mg/dl 24 hrs urinary copper(spot) : 155.16 µgm/day D- Penicillamine challenge test : 785.7 µgm/day Slit lamp exam of eye : No K-F ring / sunflower cataract. Auto-immune markers ANA : Negative Anti LKM-1 : Negative Anti SMA : Negative IgG : Normal USG of whole abdomen Coarse hepatic parenchyma, mild hepatosplenomegaly and mild ascites. Endoscopy of Upper GIT Grade-I esophageal varices.
Final Diagnosis: Chronic liver disease with portal HTN due to HBV infection.
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Pediatric Case Diary
CASE-12 Presenting Complaints: o Bowing of legs and difficulty in walking for last 2 years. o Enlargement of breast for last 1 year. o Slurring of speech for last 6 months.
Case Summary: A 15-year old boy, 1st issue of non-consanguineous parents presented with the history of bowing of legs and difficulty in walking for last 2 years, enlargement of breast for last 1 year and slurring of speech for last 6 months. The bowing of both legs gradually increased and was associated with progressive walking difficulty. Mother noticed gradual enlargement of his breast like female. For last 6 months, he developed dysarthria in the form of slurring and was progressive. Mother also noticed abnormal body movement for last 6 months. Mother gave history of deterioration of school performance for last 3 years and fracture of shaft of tibia (right) following minor trauma 1 year back. He had no history of jaundice, joint pain and convulsion. One of his family members died due to liver disease; others members were healthy. He had no H/O immunization against Hepatitis B, blood transfusion or surgery. He received Inj. Testosterone for gynaecomastia. On examination, he was afebrile with smiling face, moderately pale, anicteric and vitals were stable. Wasting of thenar and hypothenar muscle, leuconychia, true gynaecomastia present, no pubic hair or axillary hair. His height was 149 cm and weight 33 kg - within centile. On alimentary sytem examination, just palpable liver, splenomegaly 3 cm and ascites present evidence by shifting dullness. On neurological examination, incoordination of movement, dysarthria and brisk knee jerk present. On locomotor system examination, joint normal and intercondylar distance 10 cm.
Fig: Gynaecomastia Fig: Leuconychia
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Pediatric Case Diary
Provisional diagnosis: CLD due to Wilson disease with Neurological manifestations with portal hypertension with Rickets.
Points in favor for CLD Points against Wasting of thenar and hypothenar muscle. No Jaundice Leuconychia present True gynaecomastia present No pubic hair or axillary hair Hepatomegaly Ascites present. Points in favor for Portal hypertension Points against Splenomegaly No H/O melena, hematemesis Ascites present. Points in favor for Wilson Disease Points against Deterioration of school performance Non consanguineous parents He had family history of liver disease Dysarthria Abnormal body movement Smiling face Moderately pale Hepatomegaly Points in favor for Rickets Points against Bowing of legs and difficulty in walking. No widening of wrist and ankle Intercondylar distance 10 cm.
Differential diagnosis: CLD due to chronic viral hepatitis (hepatitis B or C) with portal hypertension with Rickets.
Points in favor for Chronic viral hepatitis- Points against hepatitis B or C He had family history of liver disease. - No H/O blood transfusion or surgery. No H/O immunization against Hepatitis B.
Investigations Patient’s value CBC Hb: 7.8 gm/dl ESR: 30 mm in 1st hour WBC: 3,500/cmm DC: N- 58%, L- 35%, M: 05%, E: 02% Platelet: 60,000/cmm
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Pediatric Case Diary
PBF Pancytopenia. S.Albumin 2.1 gm/dl Prothrombin time 17.7 sec (INR 1.49) SGPT 121 U/L 25-OH vit-D 16.90 ng/ml Urine R/M/E Normal S. Creatinine 0.45 mg/dl S. Electrolytes Na+ : 136 mmol/l K+ : 3.6 mmol/l Cl – : 101 mmol/l S. Uric acid 5.12 mg/dl Doppler USG of HBS Coarse hepatic parenchyma with splenomegaly with ascites. S. Ceruloplasmin 6 mg/dl 24 hours urinary copper 374 micro gm/d Eye evaluations for K-F ring Present HBsAg Negative Anti HCV Negative Endoscopy of UGIT Grade III Oesophagealvarices Xray both leg Generalized osteopenia; no features of Rickets. Alkaline phosphatase 210 U/L S. Ca++ 9 mg/dl S.PTH 17.15 pg/ml BMD (by DEXA) Lumber 1st to 4th vertebrae -4.7 Z score Right femoral neck -5 left femoral neck -4.2 MRI of brain Bilateral symmetrical (T2WI and FLAIR image) hyperintense signal changes in lentiform nucleus, also in paraventricular and sub cortical white matter –suggestive of metabolic liver disease, most likely Wilson disease.
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Pediatric Case Diary
Fig: K-F ring Fig: Generalized osteopenia, Fig: Hyperintense signal changes in lentiform nucleus
Final diagnosis: Chronic liver disease due to Wilson disease with neurological manifestations with osteomalacia with portal hypertension.
Family screening was also done. Younger brother of case showed low ceruloplasmin 6 mg/dl, normal ALT, significant urinary copper (259 micgm/day) and K-F ring on both eyes. But he was asymptomatic.
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Pediatric Case Diary
CASE-13
Presenting Complaints:
o Yellow discoloration of skin and sclera for 1 month. o Gradual abdominal distension for same duration. o H/O repeated nasal bleeding for last 7 days.
Case Summary:
XX, 8½ year old immunized girl, 1st issue of non-consanguineous parents, hailing from Narayangonj presented with jaundice for 1 month along with anorexia, nausea, weakness and gradual abdominal distension. She also developed repeated bleeding from nose for last 7days. There was no H/O abdominal pain, blood or blood products transfusion, any surgical procedure, deterioration of school performance, altered sleep pattern, abnormal behavior, any GI bleeding, rash, arthralgia (any autoimmune diseases) or family history of such type of illness. She had past H/O jaundice and ascites 1½ year back. She took Tab. Domperidone, Multivitamin for this illness. On examination, she was moderately pale, icteric, edema present, skin survey revealed multiple ecchymoses. Vitals were within normal limit. Anthropometrically, she was well thriving. On abdominal examination, hepato- splenomegaly was present and ascites seen as evidenced by shifting dullness. Other systemic examinations revealed normal findings.
Provisional Diagnosis: CLD with portal hypertension with coagulopathy due to
- Wilson disease - Viral Hepatitis - Autoimmune hepatitis. Points in favor For CLD On examination : From history: Icteric Jaundice for 1 month. Pale Gradual distension of abdomen Oedematous Anorexia, Nausea, weakness Multiple skin ecchymoses present Bleeding from nose. Non tender Hepatomegaly H/O liver disease 1 ½ year back. Ascites Points in favor for Portal hypertension: Splenomegaly Ascites
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Pediatric Case Diary
Wilson disease
Points in favor Points against • Patient: moderately pale. • No history of consanguinity. • Age is suggestive. • No family h/o liver disease or neuropsychiatric illness. Viral hepatitis Points in favor Points against H/O liver disease 1 ½ year back. • Immunized. • No h/o blood transfusion or any surgical procedure. • No family history of HBV infection. Autoimmune hepatitis
Points in favor Points against • Female child • No other autoimmune disease, • Patient: moderately pale. arthralgia, rash • No h/o autoimmune diseases in her 1st degree relatives. Investigations:
CBC Hb: 10gm/dl ESR: 25 mm in 1st hour WBC: 5,000/cmm DC: N- 52%, L- 34%, M: 10%, E: 04% Platelet: 1,31,000/cmm PBF Non specific findings. LFT S. Bilirubin - 6mg/dl ↑ (0.2-1.2mg/dl) PT: P-26.6 sec (12-16 sec), INR: 2.38 APTT - 65 sec. S. ALT- 102U/L ↑ (30-65U/L) S. Albumin- 20 gm/l ↓ (35-50 gm/l) Viral Markers HBs Ag- Negative, Anti HCV- Negative S. Electrolytes Na+ : 137 mmol/l, K+ : 4.3 mmol/ltr, Cl- : 102 mmol/ltr S. Creatinine 0.33 mg/dl Urine R/E Normal. Wilson Screening S. Ceruloplasmin: 22mg/dl 24 h urinary copper : 58.5 µgm / day
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Pediatric Case Diary
Penicillamine challenge test: 856 µgm/ day Slit lamp examination of eye: No K-F ring found. Auto-immune markers ANA: Negative, Anti- LKM1: Positive Total IgG: 28 g/l ↑ (7-16 g/l) Tissue Trans-glutaminase- Ig A: Positive S. T4 : 9.94 μg/dl (N), TSH : 0.81μIU/mL Anti -Thyroglobulin Ab:<20.0 IU/ml (N) USG of whole abdomen Liver- enlarged. Coarse parenchyma with parenchymal echogenicity increased and splenomegaly. vascular dilatations around splenic hilar region. Moderate Ascites present. Endoscopy of Upper GIT Grade III esophagealvarices seen. Liver biopsy Portal area revealed a moderate number of chronic inflammatory cells, interface hepatitis, hepatocyte rosette formation and emperipolesis seen. Comments-Moderate chronic hepatitis in consistent with autoimmune Hepatitis.
Fig: H&E, 120x: Section of Fig : H&E, 400x: Section of Fig: Grade III esophagealvarices liver tissue showing plasma liver tissue showing cell rich Portal plasma cell rich Portal inflammation, Interface inflammation, Interface hepatitis, Hepatocyte hepatitis and Hepatocyte rosette formation and rosette formation Emperipolesis. (Marked with arrow).
Final diagnosis: CLD with portal hypertension with coagulopathy due to Autoimmune hepatitis with grade III esophageal varices.
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Pediatric Case Diary
CASE-14
Presenting Complaints:
o Yellow discoloration of skin and eyes since 15 days of age. o Passage of dark urine and pale stool for same duration. o Fever and gradual abdominal distension for 20 days.
Case Summary:
XX, 7-month old immunized girl, 3rd issue of non-consanguineous parents, hailing from Gopibag, Dhaka presented with the complaints of jaundice since 15 days of her age which was gradually increasing, passage of intermittent pale stool and dark colored urine for same duration. She also developed abdominal distension along with high grade intermittent fever for last 20 days. There was no history of any bleeding manifestation, abnormal cry, convulsion, unexplained sib death or similar type of illness in other sibs. She was born at term with average birth weight. On examination, she was moderately pale, deeply icteric, edematous, febrile with increased respiratory rate. She had microcephaly. On alimentary system examination, hepatosplenomegaly and ascites were present. Other system examinations revealed no abnormality.
Provisional Diagnosis: Chronic Liver Disease with Portal Hypertension with Spontaneous Bacterial Peritonitis due to Neonatal Cholestasis.
Points in favor Points against • Chronic liver disease: – Icteric – Edematous patient – Hepatomegaly – Ascites present • Portal HTN No hematemesis or melena – Splenomegaly – Ascites • SBP – Fever, ascites • Neonatal Cholestasis: – Jaundice since 15 days of age – Passage of dark urine and pale stool. – Organomegaly
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Pediatric Case Diary
Differential Diagnosis: Neonatal cholestasis due to- 1. Idiopathic Neonatal hepatitis 2. Biliary atresia 3. TORCH infection Points in favor Points against Idiopathic Neonatal Hepatitis: • Female, Term baby, AGA • Deep Jaundice • Well thriving • Passage of intermittent pale stool Biliary Atresia: Passage of intermittent pale stool • Female, Term baby, AGA • Well thriving TORCH infection: No H/O fever or rash during pregnancy • Organomegaly • Microcephaly
Investigations: For Diagnosis: • Fractionated Bilirubin and other Liver function test For Etiology of Cholestasis: • Ultrasonography of whole abdomen • HepatobiliaryScintigraphy • Liver Biopsy • Eye evaluation • Thyroid Function test To see complication • Ascitic fluid study • Renal function test • S. Electrolytes To see associated infection: • CBC, PBF • Chest X-ray • Urine R/E and C/S
Investigations CBC Hb% : 8.1 gm /dl ESR : 05 mm in 1st hour Platelet : 1,50,000/cu mm WBC :20,800/cu mm DC : N - 60% , L - 34 %, M – 4.5 % , E- 1.5% PBF RBC: Normocytic normochromic anemia
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Pediatric Case Diary
WBC: Mature with normal distribution. Platelet: Normal. LFT S. ALT : 105 U/L S. Bilirubin : 25 mg/dl, Direct: 10 mg/dl PT: 32.8 sec, INR: 2.75, APTT: 64 sec S. Albumin : 19 gm/L S. Creatinine 0.15 mg/dL Gamma-GT 80 U/L Ascitic Fluid Study Appearance- Hazy Total cell count- 10000/cumm PMN- 30% (3000/cumm) Lymphocytes- 70% RBC- present Gram stain- no bacteria Protein- 6 gm/L Eye evaluation Visual acuity- Fix and follow present. Anterior and posterior segment normal. No cataract, cherry red spot, posterior embryotoxon, optic disc hypoplasia. Urine R/M/E Normal. S.Electrolytes Na+ : 131 mmol/L K+ : 3.7 mmol/L Thyroid test TSH: 0.72 mIU/L FT4 : 7.2 TORCH screening Anti CMV- IgM : Positive Anti CMV-IgG : Positive USG of W/A - Hepatomegaly - Splenomegaly - Huge ascites Hepatic Scintigraphy - Liver showing uniform tracer concentration. - Gall bladder and bile duct were not visualized even up to 4 hours. - Tracer activity within the bowel loops was not observed even up to 24 hours. - Negligible tracer excretion from liver after 24 hours.
Final Diagnosis: Chronic Liver Disease due to Biliary Atresia with Portal Hypertension with Spontaneous Bacterial Peritonitis with Congenital CMV infection
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Pediatric Case Diary
CASE-15
Presenting Complaints: o Abdominal distension for 2 months. o Yellowish discoloration of skin and sclera for 1½ months. o Fever for 7 days. Case Summary: XY, 11-year old, boy 1st issue of non-consanguineous parents, immunized as per EPI schedule, hailing from Shitakundo, Chittagong got admitted with the complaints of gradual abdominal distension for 2 months, jaundice for 1½ months, intermittent fever for 7 days. Fever was initially low grade then became high grade, not associated with chills and rigor, subsided by taking Paracetamol.Fever was associated with diffuse dull aching abdominal pain having no radiation, any aggravating or relieving factors. He had also history of occasional hematemesis and melena, anorexia and weight loss. There was no history of altered consciousness, rash, arthritis or arthralgia, contact with TB patient, taking any offending drugs, blood and blood products transfusion, surgery, dental procedure or trauma on abdomen. His past history was uneventful. On examination he was ill-looking, mildly pale, deeply icteric, BCG mark –present, thenar and hypothenar muscle wasting present, clubbing present, febrile (Temp-100℉), pulse 120/min, BP 100/70 mmHg, respiratory rate: 34/min, anthropometry: severely underweight, severely stunted. There was no lymphadenopathy, edema and JVP not raised. On systemic examination, Alimentary system revealed mildly tender abdomen with ascites and hepatomegaly (4cm, firm, non-tender, smooth surface, sharp border). No other organomegaly. Other systemic examinations: no abnormality detected.
Fig: Wasting of thenar Fig: Hugely distended abdomen with
and hypothenar muscle ascites with engorged vein with bandage in situ.
Provisional Diagnosis: Chronic liver disease with portal hypertension with spontaneous bacterial peritonitis.
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Pediatric Case Diary
For Points in favor Points in against Chronic Liver Disease: 1. History of jaundice. 2. Ascites, edema. 3. Hepatomegaly. 4. Stigmata of CLD (muscle wasting, clubbing) present. Portal hypertension: 1. Hematemesis and melena. No splenomegaly 2. Ascites Spontaneous 1. Ascites. bacterialperitonitis 2. Fever. 3. Abdominal pain and tenderness.
Differential Diagnosis: Abdominal TB Points in favor Points in against 1. Ascites 1. No H/O contact 2. Abdominal pain 2. No altered bowel habit 3. Fever 3. Jaundice 4. Malena 5. Hepatomegaly
Lymphoma Points in favor Points in against 1. Fever. 1. No lymphadenopathy. 2. Ascites. 2. Absence of characteristic fever and sweating. 3. Hepatomegaly. 3. Jaundice.
Plan of Investigations: CBC with PBF Liver function test To identify cause of CLD: ◦ Viral screening ◦ Screening for Wilson disease ◦ Autoimmune hepatitis Ultrasonography of HBS, Doppler study of portal vein Endoscopy of upper GIT Ascitic fluid study and C/S Serum LDH MT, Chest X ray, X ray Abdomen Renal function test, Urine R/E and C/S, S. Electrolytes 58
Pediatric Case Diary
Findings: CBC Hb: 10gm/dl ESR: 12 mm in 1st hour WBC: 9500/cmm DC: N-50%, L-40%, Platelet: 1,00,000/cmm MCV: 73.4 fl, MCH: 23.5 pg, MCHC: 32.1 g/dl RDW: 16.7% PBF RBC: Microcytic hypochromic anemia. WBC: Mature with normal distribution. No blast cell. Platelet: Decreased. LFT S. Bilirubin : 1.4 mg/dl ALT: 120 U/L AST: 68 U/L PT : 23.3 seconds , INR: 2.32 S. Albumin : 30.2 gm/L Viral Markers HBsAg :Negative Anti HCV : Negative S.Electrolytes Na+ : 135mmol/ltr K+ : 4.8mmol/ltr Cl- : 105mmol/ltr HCO3- : 18 mmol/ltr S.Creatinine 0.6 mg/dl S. LDH 429 U/L MT 02 mm S. Ceruloplasmin 30 mg/dl (20-60) Eye evaluation No KF ring or sunflower cataract. S. IgG 12.2 g/L (7-16) Blood C/S Negative Urine C/S No growth ANA Negative Anti LKM1 Negative VDRL Non-reactive Electrocardiogram Sinus tachycardia Echocardiography Normal Ultrasonography of whole abdomen Mild hepatomegaly with coarse hepatic echo pattern with ascites. Endoscopy of Upper GIT Grade IV esophageal varices seen. Chest X ray Normal
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Ascitic Fluid Study: - Color: Yellowish - App: Hazy - WBC: 40 /HPF - N-45%, L-55%, few atypical mononuclear cells. - Gram positive cocci found. - AFB : Not found - C/S: No growth - ADA: 5.5 ( up to 24 U/L) - Albumin : 6 g/L - LDH: 88 U/L - SAAG: 30.2 – 6 = 24.2 ( > 1.1 indicates high SAAG) - Ascitic Fluid: Serum LDH = 0.2 - Ascitic fluid for malignant cell (Cytospin) : No malignant cell found.
X ray Abdomen: Distended large gut loop Doppler study: Mild portal HTN, narrowing may be due to impacted fecal matter. of IVC in proximal part near rt. atrium.
Final diagnosis: Chronic liver disease with portal hypertension due to Budd-Chiari syndrome
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Pediatric Case Diary
CASE-16
Presenting Complaints:
o Fever for 1 month. o Upper abdominal pain for same duration.
Case Summary:
XX, 12-year old girl, immunized, 2nd issue of non consanguineous parents hailing from Mohammadpur got admitted with the complaints of high grade continued fever for 1 month, which was associated with chills and rigor, highest recorded temp was 103º F, subsided after taking antipyretic and right upper abdominal pain for same duration which was dull in nature, continued having no relieving or aggravating factors and no radiation. She had h/o taking street food regularly.
On query, she gave h/o anorexia, nausea and vomiting for same duration. She had no H/O diarrhoea, abdominal trauma, abdominal surgery, close exposure to domestic dog and dog faeces. She had H/O similar type of attack 1 year back and was treated with injectable antibiotics. She was a diagnosed case of Hb E –ß- thalassemia from the age of 3 ½ years. For this reason, she required approximately 4 units of blood transfusion per year and treated with Tab. Hydroxyurea and Deferasiroxsince her 5 years of age. On examination, she was moderately pale, anicteric, no stigmata of CLD present, vitals- stable except temp which was 101º F. Anthropometrically- she was severely stunted and severely underweight. On systemic examination, abdomen was distended on right hypochondriac region, soft, tender hepatomegaly and splenomegaly were present. Other systemic examinations revealed no abnormality.
Provisional diagnosis: Liver abscess with Hb-E-ß Thalassemia
Points in favor • High grade continued fever. • Right upper quadrant abdominal pain. • Anorexia, nausea and vomiting. • On examination: Tender hepatomegaly present.
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Pediatric Case Diary
Differential Diagnosis:
Acute Anicteric hepatitis with Hb-E-ß Thalassemia
Points in favor • Anorexia, nausea, vomiting. • Fever. • H/O repeated blood transfusion. • History of taking street food frequently. On examination: • Tender hepatomegaly.
Plan of Investigations: • To confirm the diagnosis: - USG of Hepatobiliary system - CT scan of Hepatobiliary system To exclude D/D: - Liver function test (S.ALT, PT and INR) - HBsAg - Anti HCV - Anti HAV IgM - Anti HEV IgM Supportive Investigations: - CBC with PBF - Urine RME - Stool RME - Chest x ray and S. Ferritin CBC Hb: 7.4 gm/dl, ESR: 55 mm in 1st hour WBC: 18,000/cmm DC: N- 64%, L- 32%, E- 03%, M- 01% Platelet: 9,50,000/cmm MCV: 75fL, MCH: 19.6 pg, MCHC: 30.2 g/dl
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Pediatric Case Diary
PBF Features of microcytic hypochromic anaemia. Liver Function Test (LFT) S. ALT : 32 U/L PT:13.5sec INR-1.13 Anti HAV IgM Negative Anti HEV IgM Negative HBsAg Negative Anti HCV Negative USG of Hepatobiliary system Liver: enlarged in size (12.7cm). Large hyperechoic (Before admission) area noted in right lobe of liver measuring 4.5cm ×4.2 cm. Gall bladder: Normal in size. Single echogenic structure with strong acoustic shadow seen within lumen measuring about 8.3mm×6.4mm. Spleen : enlarged in size. USG of Hepatobiliary system Liver: enlarged showing mixed echogenic lesion (After admission) measuring about 5.4× 4cm in the right lobe of liver with exophytic extension. Gall bladder: Normal in size. Single echogenic structure with strong acoustic shadow seen within lumen Spleen: Enlarged in size and uniform echopattern. Comment: Suggestive of infected hydatid cyst with exophytic extension (right lobe) with cholelithiasis. CXR P/A view Normal Urine R/M/E Pus cell: 0-2/HPF Epithelial cell: 1-2/HPF Stool R/M/E No cyst or trophozoite for E. histolytica seen. S. Ferritin 1360 mg/ml Echinococcus Antibody Positive
Final Diagnosis: Infected Hydatid Cyst of Liver with Hb-E-ß Thalassemia
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Pediatric Case Diary
CASE-17
Presenting Complaints:
o Fever for 12 days.
o Abdominal pain for 12 days.
Case Summary:
XX, 7-year old girl, fully immunized as per EPI schedule, got admitted with high grade intermittent fever (max. temp-104º F) associated with chills, rigor and night sweat along with continuous, dull aching pain in right hypochondrium without radiation for last 12 days. She had no H/O of abdominal trauma, surgery, dysentery, jaundice, close contact with dog. She received inj. Ceftriaxone (75mg/kg) for 6 days. On examination, she was ill looking, well oriented, mildly pale, anicteric, febrile (Temp: 103°F), pulse: 120beats/min. P/A examination showed tender hepatomegaly. Other system examinations revealed normal findings.
Provisional Diagnosis: Liver abscess most likely pyogenic.
Points in favor ▪ Swinging rise of temperature. ▪ Dull aching pain on right hypochondrium. ▪ Tender hepatomegaly.
Differential Diagnosis:
Amoebic Liver Abscess
Points in favor Points against ▪ Dull aching pain on right • High grade fever. hypochondrium. • No H/O dysentery. ▪ Tender hepatomegaly. ▪ Regular street food intake. Infected Hydatid Cyst:
Points in favor : Points against : ▪ Fever. • No H/O close contact with dog. ▪ Dull aching pain on right hypochondrium. ▪ Tender hepatomegaly.
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Pediatric Case Diary
Investigations: 1. CBC with ESR 2. USG of HBS 3. Blood C/S 4. CXR 5. Stool R/M/E 6. Echinococcal Ab 7. LFT
CBC Hb: 10.3 gm/dl ESR: 120 mm in 1st hour WBC: 15,000/cmm DC: N- 71%, L- 14.4%, E- 0.3%, M- 4.9% Platelet: 5,00,000/cmm USG of HBS Welldefined hypoechoic area measuring about 5.0×4.1 cm in superior aspect of right lobe of liver. Suggestive of liver abscess CXR Normal Stool R/M/E Normal EchinococcusAb Negative SGPT 13 U/L Coagulation profile Prothrombin time (PT): 14.7sec. INR : 1.24 Examination of aspirated pus Physical examination: - Colour: Anchovy sauce pus - Appearance: Hazy and thick Microscopic examination: - TC of WBC:50,000 cells/cumm - DC: Neutrophils: 97%, Lymphocyte: 03% - Pus for C/S: No growth of pathogenic bacteria Pus for Gram Staining Gram reactive organism not found. Pus cell absent.
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Pediatric Case Diary
USG of HBS: Well defined hypoechoic area measuring about 5.0×4.1 cm in superior aspect of right lobe of liver. Suggestive of liver abscess
Fig: Aspirated pus
Final Diagnosis: Amoebic liver abscess
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Pediatric Case Diary
CASE-18 Presenting Complaint: o Gradual abdominal distension since 2 months of age.
Case Summary: XX, 5½ month old girl, 2nd issue of non consanguineous parents from Jamalpur immunized as per EPI schedule got admitted with the complaints of gradual abdominal distension for 3 ½ months along with low grade intermittent fever for 1 month. She had no H/O of cough, diarrhoea, contact with TB patient and suggestive H/O of underlying liver or kidney disease, abdominal trauma or surgery. On examination, she was afebrile, anicteric, mildly pale, vitals within normal limit, edema absent, anthropometry: she was well thriving, BSUA-nil, BCG mark present. On abdomen examination, ascites was present evidenced by fluid thrill. There was no organomegaly. Other systemic examinations revealed normal findings.
Fig 1: Abdomen distended, Umbilicus everted and visible veins present.
Provisional Diagnosis: Abdominal TB most probably Peritoneal TB
Points in favor Points against • Low grade fever • No contact with TB patient. • Ascites present • BCG mark present • Well thriving
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Pediatric Case Diary
Differential Diagnosis: Congenital Chylous Ascites
Points in favor Points against • Age suggestive. • Rare condition • Painless, gradual abdominal distension. • Ascites present.
Investigations:
CBC Hb : 8.8 gm/dl ESR : 30 mm in 1st hr WBC : 10,000/cumm DC : N- 52%, L- 40%, M- 04%, Platelet : 3,65,000/cumm PBF Microcytic hypochromic anemia. S. ALT 20 U/L S. Albumin 20 gm/lt Serum Triglyceride 222 mg/dl (<150 mg/dl) MT Negative CXR Normal Ascitic fluid study Appearance : Milky white . Cytology: Fair number of lymphocyte seen Biochemical examination : - Glucose : 95 mg/dl - Protein : 6.1 gm/dl - TG : 4329 mg/dl USG of Whole Abdomen Marked ascites Upper GI endoscopy - Snow flaky appearance in 2nd part of duodenum. Histopathology report: - Section showing duodenal mucosa, distorted villi, lamina propria contained moderate number of lymphocytes. Dilated lymphatics were present in the villous core. - No granuloma or malignancy was seen. Diagnosis: Compatible with Lymphangiectasia.
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Pediatric Case Diary
Fig: Milky white ascitic fluid Fig: Snow flaky appearance in 2nd part of duodenum
Fig: Lymphangiectasia (p.c: Webpathology)
Final Diagnosis: Chylous Ascites due to Congenital Intestinal Lymphangiectasia.
Treatment: • Counseling • Diet: Breast feeding • Inj. Octreotide with 5% DA - 0.5mcg/kg/hr- D1, D2 - 1mcg/kg/hr-D3, D4-D7. - 0.5mcg/kg/hr- D8 - 0.2mcg/kg/hr-D9, D10
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Pediatric Case Diary
CASE-19
Presenting Complaint:
o Pain in upper abdomen for 5 days.
Case Summary:
XX, 8 ½ year old girl, 1st issue of non-consanguineous parents, hailing from Norshingdi immunized as per EPI schedule, presented with epigastric pain for 5 days which was severe, dull in nature. There was no aggravating or relieving factor and no radiation and persisted all the day. The pain had no relation with food. She also had history of vomiting several times for the same duration which was non projectile, occurred usually after meal and contained food particles and not mixed with blood or bile. There was no complaint of fatigue, weight loss, polyuria, polyphagia, polydipsia, respiratory distress or constipation. She had history of similar type of attacks multiple times for last 7 months. The pain was so severe that she needed hospitalization for several times. Therewas no family history of such type of illness. On examination, she was afebrile, anicteric, mildly pale, BCG mark was present and vitals were within normal limit. Anthropometrically, she was well thriving. Abdominal examination showed epigastric tenderness. There was no organomegaly and ascites was absent. Other systemic examinations revealed normal findings.
Provisional diagnosis: Acute pancreatitis
Points in favor From history : - abdominal pain, - vomiting On examination: epigastric tenderness
Differential Diagnosis: Peptic ulcer disease
Points in favor: Points against: From history : abdominal pain - No history of taking any offending drugs. On examination: epigastric tenderness - No relation with food.
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Investigations:
CBC Hb: 10.3 gm/dl, Hct : 36 % ESR: 55 mm in 1st hr (↑) TC of WBC : 9,700/cmm DC: N- 63%, L- 30%, E- 05%, M- 02% Platelet: 1,70,000/cmm Blood Sugar level Fasting blood sugar: 4.3 mmol/L Random blood sugar:11.8mmol/L Serum amylase 240 U/L Serum lipase 160 U/L Serum electrolytes Sodium (Na+) :134 mmol/l Potassium (K+): 3.8 mmol/l Chloride (Cl-) : 98 mmol/l Serum alanine aminotransferase (S. ALT) 74 U/L Serum alkaline phosphatase 190 U/L. Serum calcium 10.3 mg/dl Thyroid function test Serum T4: 120 nmol/L Serum TSH: 5 mIU/L Serum lipid profile Serum triglyceride: 2650mg/dL↑↑ (At admission) After treatment: Total cholesterol: 148 mg/dl HDL: 17 (↓) Triglyceride: 894mg/dl (↑) Anti H. pylori antibody Negative Plain X-ray abdomen and Chest X-ray Normal Mantoux test (MT) 3 mm (negative) Ultrasonography of whole abdomen Calcification in right lobe of liver measuring about 1.12 cm and soft calculus or sludge in the gall bladder. Upper GI endoscopy Normal
Final diagnosis: Hypertriglyceridemia-induced Acute Pancreatitis
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Pediatric Case Diary
CASE-20
Presenting Complaints:
o Upper abdominal pain for 5 days. o Vomiting (3 episodes) for 1 day.
Case Summary:
XY, 12-year old boy, 2nd issue of nonconsanguineous parents, hailing from Jatrabari, got admitted with the complaints of diffuse upper abdominal pain for 5 days which was initially mild in nature then became severe, agonizing, radiated to back, aggravated on taking food and relieved on leaning forward position. It was associated with anorexia for same duration, vomiting-3 episodes for 1 day and constipation for 3 days. He had no h/o taking any offending drugs, any family h/o same type of illness. He didn’t have any h/o of trauma or abdominal surgery, oily stool, polyuria, polydipsia, weight loss or h/o jaundice and joint pain. He had same type of illness for 3 times in last 2 years. On examination, he was toxic, fretful, mildly pale, BCG mark present. For this condition, he took oral antispasmodic and anti-ulcerant but his condition did not improve. Vitals were within normal limit and Anthropometry was normal. On abdomen examination: Abdomen was slightly distended; tenderness present on epigastric region with no organomegaly and bowel sound was present.
Fig: Our case on leaning forward position
Provisional Diagnosis: Acute recurrent pancreatitis.
Points in favor 1. Characteristic abdominal pain. 2. Previous h/o same type of several attacks.
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Differential Diagnosis: Peptic ulcer disease.
Points in favor Points against 1. Upper abdominal pain. 1.No h/o taking any offending drugs 2. Anorexia. or medication. 3. Vomiting. 2. No response to anti-ulcerant 3. Absence of epigastric burning sensation. Plan of Investigations:
For diagnostic purpose: • S. Amylase, S. Lipase • Imaging study-Plain X-ray of Abdomen, USG of HBS To see complications- S. Calcium, RBS, S. Electrolytes, CBC To see underlying etiology- Lipid profiles, Celiac screening, Viral screening
CBC Hb% :10.5gm/dl, Hct : 34.6% ESR : 25 mm in 1st hr PLT : 2,80,000 /cumm TC : 9,500 /cumm, DC : N- 60%, L- 35% RBS 3.5 mmol/l S. Electrolytes S. Na+: 144 mmol/l S. K+: 4.1 mmol/l S. Cl-:103 mmol/l S. Amylase 602 U/l S. Lipase 4680 U/l S. Calcium 8.3 mg/dl S. Triglyceride 168mg/dl S. ALT 42U/L Plain x-ray abdomen in erect posture Normal. USG of whole abdomen Normal
Final Diagnosis: Acute Recurrent Pancreatitis.
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Pediatric Case Diary
CASE-21 Presenting Complaints: o Epigastric pain for last 1 month. o Vomiting (2-3 times/day) for same duration.
Case Summary: XY, 7-year old boy, only issue of nonconsanguineous parents, immunized as per EPI schedule, presented with severe, agonizing and intermittent epigastric pain for last 1 month which radiated to the back, aggravated after taking food and partially relieved on leaning forward. He also had vomiting, 2-3 times/day for same duration. He had no history of constipation, abdominal trauma or surgery, polyuria, polydipsia, diarrhoea or taking any offending drugs or family history of similar typeofillness. He had H/O taking Inj. Meropenem for 5 days, Famotidine, Tramadol hydrochloride. On examination, he was toxic, ill looking. Vitals were within normal limit and anthropometrically severely wasted. On abdomen examination, epigastric tenderness present with no organomegaly and ascites. Bowel sound was present.
Provisional Diagnosis: Acute pancreatitis
Points in favor 1. Characteristic pain. 2. Vomiting. 3. On examination: Tenderness present on epigastric region.
D/D: Acute exacerbation of peptic ulcer disease
Points in favor Points against 1. Upper abdominal pain. 1. No H/O taking any offending drugs or 2. Vomiting. medication. 2. No response with H2 blocker.
Investigations: For diagnosis: • S. Amylase • S. Lipase • USG of Hepatobiliary system • Plain X-ray abdomen For etiology: • Lipid profile • S. Calcium • Anti HBs
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For complication: CBC, RBS, S. Electrolytes
CBC Hb: 11 gm/dl, ESR: 17 mm in 1st hour WBC: 6,100/cmm DC: N- 48%, L- 42%, Hct : 34% Platelet: 1,80,000/cmm PBF Non specific findings. RBS 4.2 mmol/L S. Amylase 1493 U/L (Upto 90 U/L) S. Lipase 7173 U/L (73-393 U/L) S. Calcium 9 mg/dL S. Triglyceride 87 mg/dl ( <150 mg/dL) S. Electrolytes Na+ : 139 mmol/ltr, K+ : 3.6 mmol/ltr Cl- : 100 mmol/ltr Viral marker Anti HBs: Positive Plain x-ray abdomen in erect posture Normal USG of whole abdomen - Pancreas: swollen, - Parenchymal echotexture : heterogenous. - MPD: mildly dilated (5mm). - An elongated focal collection having few low level echoes measuring about 5.9×3.8cm noted adjacent to head and body of pancreas. - Mild ascites present. Liver normal in size with uniform echotexture. Comment: Features of pancreatitis with mildly dilated MPD and loculated collection adjacent to body of pancreas.
Fig: Loculated collection (cyst) adjacent to body of pancreas.
Final Diagnosis: Chronic pancreatitis with pancreatic pseudocyst
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Pediatric Case Diary
CASE-22
Presenting Complaints: o Upper abdominal pain for 12 months. o Excessive urination for 2 months. o Excessive intake of water for same duration.
Case Summary: XX, 15-year old girl, presented with epigastric pain for 12 months which was usually mild in nature, sometimes became severe, agonizing, radiating to the back. The pain was not associated with vomiting, aggravated after taking food and partially relieved by leaning forward. The pain was so severe, persisted for 3-4 days and compelled her to seek medical attention. She had history of similar attacks, total 4 episodes in last 12 months. She also had polyuria and polydipsia for last 2 months. She had weight loss despite good appetite for same duration. She had no h/o convulsion, impaired consciousness, respiratory distress, urinary complaints, steatorrhoea or taking any offending drugs. With above complaints, she visited local physician and treated with i/v fluid, anti-ulcerant, anti spasmodic drugs. O/E, she was well alert, mildly pale, vitals were stable, anthropometrically- she was severely underweight, BMI below 3rd centile, Benedict’s test: Brick red. On abdomen examination: mild tenderness present in epigastric region. Other systemic examinations revealed normal findings.
Provisional Diagnosis: Chronic Pancreatitis with Diabetes Mellitus (Juvenile Tropical Pancreatitis/Fibrocalculus Pancreatic Diabetes)
Points in favor for Juvenile Tropical Points in favor for Diabetes Mellitus Pancreatitis ▪ Tropical country ▪ Polyuria ▪ Age- young, adolescent girl ▪ Polydipsia ▪ Characteristic Abdominal pain ▪ Weight loss ▪ Diabetes mellitus ▪ Non alcoholic patient ▪ Low BMI
Investigations: Plan of investigations To exclude any infection or DKA : ▪ CBC ▪ Urine R/M/E ▪ Serum Electrolytes
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Pediatric Case Diary
▪ ABG ▪ Blood sugar To see pancreatic function : S. amylase S. lipase Plain x-ray abdomen Ultrasonogram of whole abdomen To see complications : ▪ Eye evaluation ▪ Fasting lipid profile ▪ Urine for micro albumin For management purposes : ▪ Serum ALT ▪ Serum Creatinine
Investigations : CBC - Hb : 10.9gm/dl, ESR: 20 mm in 1st hr - WBC: 7,000/cumm - DC : N- 68%, L- 28%, M- 03% - Platelet : 2,50,000/cumm - Hct: 34% Urine R/M/E Sugar ++++, Protein- Nil, Ketone body - Nil, Pus cell : 0-2/HPF, RBC- Nil, Specific gravity:1.020 HbA1c 11.9% Blood sugar 14 mmol/L S. Amylase 68 U/L S. Lipase 125 U/L S. ALT 49U/L Ultrasonogram of whole abdomen Suggestive of chronic calcific pancreatitis with mild dilated MPD Serum Creatinine 0.6 mg/dl Serum Calcium 9.3 mg/dl Serum Electrolytes Sodium - 141 mmol/l, Potassium- 3.6 mmol/l, Chloride- 107 mmol/l Bicarbonate 24mmol/l Fasting lipid profile Total Cholesterol- 180mg/dl HDL Cholesterol- 31mg/dl LDL Cholesterol- 100 mg/dl Triglycerides - 142mg/dl
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Urine for micro albumin 20mg/L Eye Evaluation Normal Ultrasonogram of whole abdomen Heterogeneous echotexture of pancreas. Pancreatic parenchyma atrophied. Multiple diffuse calcified bright echogenic structures noted in head, body and tail of pancreas. MPD dilated. MRCP Pancreatic duct grossly dilated, tortuous and beaded appearance. Multiple pancreatic calculi present within all segment of pancreas.
Fig: Stone in pancreatic area Fig: Pancreatic parenchyma atrophied with multiple stones. MPD mildly dilated
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Fig: Multiple pancreatic calculi on MRCP Fig: dilated, tortuous and beaded MPD
Final Diagnosis: Juvenile Tropical Pancreatitis / Fibro calculus pancreatic diabetes (FCPD)
Diagnostic criteria for fibro-calculous pancreatic diabetes Mohan et al.1985 1. Occurrence in a “tropical” country. 2. Diabetes by WHO criteria. 3. Evidence of chronic pancreatitis: pancreatic calculi on X-ray or at least three of the following: a) Abnormal pancreatic morphology by ultrasonography b) Chronic abdominal pain since childhood c) Steatorrhoea d) Abnormal pancreatic function test. 4. Absence of other causes of chronic pancreatitis. I.e. Alcoholism, hepatobiliary disease
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CASE-23
Presenting Complaints: o Fever and cough since 2 months of age. o Passage of loose oily stool for 9 months. o Not growing well in comparison to other peers. Case Summary: XX, 16-month old girl, only issue of consanguineous parents, immunization ongoing as per EPI schedule, hailing from Comilla, presented with recurrent fever and cough since her 2 months of age, steatorrhea for 9 months and not growing well in comparison to other peers. Now, she again developed high grade continued fever and cough for last 4 days. She was a term baby with IUGR. Mother had h/o PROM and one abortion. For respiratory complaint, she was treated with oral antibiotics for several times at home, hospitalized for 2 times and treated with injectable antibiotics. Now she is on breast milk, khichuri and some family foods have been introduced gradually. Her calorie deficit was 110 Kcal/day. There was no history of delayed passage of meconium, recurrent skin or ear infections, abdominal pain, per rectal bleeding, atopy, family h/o similar illness or contact with TB patient. O/E- she was ill looking, febrile, moderately pale, dyspneic, RR-48 br/min, hair thin, sparse, lusterless, severely underweight, severely wasted, severely stunted, microcephaly and developmental delay present. Crepitation and ronchi present in both lung fields and other systemic examinations revealed normal findings.
Provisional Diagnosis: Cystic fibrosis with pneumonia with FTT with microcephaly with global developmental delay.
Points in favor for Cystic fibrosis: Points favor for Pneumonia: ▪ Consanguinity present History: ▪ H/O recurrent fever and cough ▪ High grade continued fever ▪ Loose oily stool ▪ Cough ▪ FTT O/E: ▪ Dyspneic Points in favor for failure to thrive: ▪ RR: 48 breaths/min ▪ Failure to gain weight ▪ Crepitation and ronchi present in ▪ Weight < 3rd percentile both lung fields. For Global developmental delay : ▪ Delay in > 2 domains
Differential Diagnoses: Sever Acute Malnutrition
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Sever Acute Malnutrition
Points favor Point against ▪ Not growing well ▪ There was no gross feeding ▪ H/O pneumonia mismanagement. ▪ H/O loose motion ▪ WHZ: -4.8
Primary immunodeficiency disorder Points favor Point against ▪ Recurrent respiratory tract infection. ▪ No h/o ear infection, deep skin/ ▪ Chronic diarrhoea . organ abscess, deep seated ▪ FTT. infection. ▪ No family h/o such type of illness. ▪ Consanguinity. ▪ Loose oily stool.
Plan of Investigations: 1) Base line investigation: - CBC - S. electrolytes - Urine R/M/E and C/S - Stool R/M/E and C/S 2) For diagnosis of CF: - Sweat chloride test 3) To assess pancreatic insufficiency: - Fecal fat estimation 4) To assess pulmonary complication: - CXR 5) To assess other complications: - RBS, LFT, USG of whole abdomen
Investigations: CBC Hb%: 9.2 g/dl, ESR: 30 mm in 1st hour TC WBC: 12,160/cumm, DC: N - 50%, L - 60% Platelet: 3,70,000/cumm PBF Normochromic Normocytic anemia. S. Electrolytes Sodium (Na+): 139 mmol/L, Potassium (K+): 4.8 mmol/L, Chloride (Cl-): 106 mmol/L, T-CO2 : 18.2 mmol/L
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Urine R/M/E Normal. Stool R/M/E Normal. Urine C/S No growth. Stool C/S No growth. Fecal fat 70-100 Droplet/HPF RBS 5.4 mmol/l Sweat chloride test 69.4mEq/L S. ALT 19 U/l USG of W/A Normal findings. Previous investigation report - MT: Induration absent - Gastric lavage for Gene Xpert test: Negative
CXR P/A veiw: Patchy opacity in both lung fields.
Final Diagnosis: Cystic Fibrosis with Pneumonia with FTT with Microcephaly with Global developmental delay.
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CASE-24
Presenting Complaints:
o Vomiting of blood for 10 days. o Passage of black tarry stool for same duration. o Bluish discoloration of lips since 4 years of age.
Case Summary:
XY, 10-year old boy, 1st issue of non-consanguineous parents presented with history of vomiting of blood and passage of black tarry stool for 10 days and bluish discoloration of lips since 4 years of his age. His informant mother stated that he developed bluish discoloration of lips and finger tips initially during physical activity but later on it also appeared during rest condition and persisting till now. He had hematemesis 2 times and melena 3 times in last 10 days. On query, mother gave history of low grade evening rise of temperature for last 1 year associated with dry non-productive cough. He was not growing like other peers. He had no history of jaundice, contact with TB patient, neonatal sepsis, umbilical catheterization, abdominal trauma, severe dehydration or any surgery. On examination, he was dyspneic, cyanosed (fig:1), anicteric, conjunctiva congested, no lymphadenopathy, pigeon chest deformity (fig:3), BCG mark present, clubbing present (in all 4 limbs, stage 4, fig:2), SPO₂ at room air:70% and with 4ltr/min O₂: 80%. Anthropometrically, he was severely wasted, moderately stunted. On systemic examination, vesicular breath sound with few crepitations present in both lung fields, no murmur was found. Hepatomegaly (3cm) and Splenomegaly (7cm) present, no ascites seen. On locomotor system examination, gibbus present at T6-T7 level.
Fig1: Cyanosis Fig2: Clubbing Fig 3: Pigeon chest deformity
Provisional Diagnosis: Congenital cyanotic heart disease, most probably Tetralogy of Fallot (TOF) with disseminated tuberculosis with Portal HTN (Extra-hepatic).
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Points in favor for TOF Points against TOF History : • History of cyanosis since 4 years • History of cyanosis present. of age. • History of not growing well. • No murmur. Examination : • Hematemesis and melena. • Clubbing present • Cyanosis present • Conjunctival congestion present • Moderately stunted • Chest deformity present
Points in favor for Disseminated TB Points against From history : • H/O contact with TB patient. • Fever for 1 yr. • No lymphadenopathy. • FTT On examination : • Severely wasted, moderately stunted • Gibbus present at T6-T7 level • Vesicular breath sound with crepitations present in both lungs • Hepatosplenomegaly
Points in favor of portal hypertension • Hematemesis and melena • Splenomegaly
Points in favor for extrahepatic portal Points against for extrahepatic portal hypertension hypertension • No other stigmata of CLD (except • Clubbing clubbing) • FTT • No jaundice
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Investigations:
CBC : Hb - 17.1 gm/dl, HCT: 55.7% ESR- 60 mm in 1st hr TC of WBC: 4,480/cmm DC: N- 50%, L- 46% Platelet: 77,000/cmm Liver Function Test (LFT): S. ALT- 14 U/L PT: 14.2 sec S. Albumin: 3.6 gm/dl Endoscopy of Upper GIT: Grade 4 esophageal varices seen.
USG of Whole Abdomen: Coarse hepatic parenchyma with splenomegaly. X-ray of thoraco-lumbar spine: Dorsal kyphotic curvature exaggerated. Destruction with vertebral body height reduction and end plate irregularity noted at D6, D7 vertebra with reduction of intervening intervertebral disc causing focal kyphosis (figure 5).
Colour Doppler USG of HBS: Coarse hepatic parenchyma, portal vein shows hepato- petal flow, mean velocity 10.22 cm/s, no thrombus cavernous transformation seen which is consistent with portal hypertension. MT: Negative Chest X-ray: Miliary mottling present. Sputum for AFB: Negative. Sputum for Gene Xpert: Negative. Echocardiography: Normal
Pulmonary Perfusion Scintigraphy: Normal perfusion(bilateral)
Contrast Echocardiography: Pulmonary Arteriovenous Shunt. Transesophageal Echocardiography: Mild ASD.
Bone Marrow Study: Erythroid hyperplasia with increase number of plasma cells. Other marrow elements maturing.
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Fig 4: Miliary mottling vertebra Fig 5: Destruction with vertebral body D6,D7
Fig6: Bubbles on right atrium then 1 sec later on left atrium.
Final Diagnosis: Congenital Cyanotic Heart Disease (Pulmonary arteriovenous malformations) with Extra-hepatic portal hypertension with disseminated Tuberculosis.
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CASE-25
Presenting Complaints: o Fever for 12 days. o Abdominal Pain for 10 days. o Pain and swelling of multiple joints of body for 7 days. o Rash in different sites of the body for 6 days. Case Summary: XY, 5- year old boy, 1st issue of consanguineous parents, hailing from Mogbazar, Dhaka, got admitted with the complaints of high grade continued fever for 12 days not associated with chills and rigor, maximum recorded temperature was102℉, subsided after taking antipyretic. He developed abdominal pain for last 10 days which was diffuse, colicky in nature, more on periumbilical region, aggravated after taking food, non-radiating. He developed pain and swelling of multiple joints which first appeared in left ankle then gradually involved right ankle, both knees, wrist and elbow, which was non-migratory, additive in nature, severe enough to hamper his daily activities, not associated with morning stiffness. Mother also noticed rash for last 6 days which involved both upper and lower limbs and buttock, variable in size, initially red in color then became brownish, non-pruritic. He had history of sore throat 2 weeks prior to this illness. He had no H/O hematuria, visual problem, headache, convulsion and oral or nasal ulceration. On examination, he was ill- looking, febrile, mildly pale, multiple maculopapular rash present on extensor surface of the both limbs and buttock, mostly palpable purpuric, some were petechiae and ecchymoses, some erythematous and others brownish in color, did not blanch on pressure. His pulse was 96 b/min, BP- 90/50 mmHg, anthropometry was normal, BSUA-nil, tenderness was present on periumbilical region, features of arthritis present on both knee and ankle joints.
Fig: purpura and petechiae 87
Pediatric Case Diary
Provisional Diagnosis: Henoch Schonlein Purpura
Points in favor
• Age: 5 yrs • Characteristic rash present • Abdominal pain • Features of arthritis present. Differential Diagnoses: Acute leukemia
Points in favor Points against
• Fever • Abdominal Pain present • Rash • No Bony tenderness • Joint Pain • No Hepatosplenomegaly • No Lymphadenopathy
Systemic JIA
Points in favor Points against
• Fever • Duration < 6 weeks • Arthritis • No Hepatosplenomegaly • No Lymphadenopathy • No Serositis Investigations Complete blood count (CBC) Hb: 10.2 gm/dl, ESR: 41 mm in 1st hour WBC: 16,400/cmm , DC: N- 59%, L- 34%, M: 04%, Platelet: 4,00,000/cmm PBF Non specific findings Urine R/E Normal Urine C/S No growth CRP 1.28 mg/dl Stool R/E Normal OBT Negative S. creatinine 0.4mg/dl Plane X-Ray abdomen Normal study USG of whole abdomen Normal study Final Diagnosis: Henoch Schonlein Purpura
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CASE-26
Presenting Complaint: o Gradual abdominal distension for 1½ years.
Case Summary:
XY, 3½ year old immunized boy, 3rd issue of non-consanguineous parents, hailing from Munshigonj, got admitted with the complaints of gradual distension of abdomen for 1½ years. He had H/O recurrent respiratory tract infection for same duration and H/O craving for food and early morning irritability. He had no H/O jaundice, fever, abdominal pain, early morning or late night convulsion, diarrhoea, contact with TB patients, bleeding manifestation. He had family H/O sib death at early neonatal age. On general examination, he was alert, having doll like face and a protuberant abdomen, was mildly pale and vital signs were normal. On anthropometric measurement, he was severely stunted. He was developmentally age appropriate. On abdomen examination, hepatomegaly was present. Other systemic examinations revealed normal findings.
Provisional Diagnosis:
Storage disease most probably Glycogen Storage Disease.
Points in favor Points against From History: - Non-consanguinity - Gradual distension of abdomen. - No H/O early or late night convulsion - Craving for food - Early morning irritability - H/O recurrent respiratory tract infections - Sib death On Examination: - Doll face - Huge hepatomegaly
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Differential Diagnosis: Hepatoblastoma
Points in favor Points against - Abdominal distension - Age - Hepatomegaly - Craving for food - Early morning irritability - H/O recurrent RTI - Doll face
Investigations:
CBC Hb : 11.3g /dl TC of WBC : 8,000/mm3 DC: N: 33%, L: 57%, M: 03%, E: 07% Platelet : 3,10,000/cmm PBF Microcytic hypochromic anemia S. ALT 204 U/L S. TG 584 mg/dl FBS 5.1 mmol/L S. Uric Acid 3.6 mg/dl Urine RME Normal PT/INR PT : 12sec; INR : 1 USG of Whole Abdomen Hepatomegaly with fatty change. Ophthalmologic evaluation Normal Liver Biopsy Microscopic examinations of sections revealed swollen hepatocytes, increased amount of glycogen demonstrated in PAS stain. The portal area revealed periportal fibrosis and contained mild chronic inflammatory cells and diagnosis compatible with Glycogen storage disease.
Final Diagnosis: Glycogen Storage Disease.
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CASE-27
Presenting Complaints:
o Gradual distension of abdomen for 1 month. o Fever for same duration.
Case Summary:
XX, 2-year old girl, 3rd issue of non–consanguineous parents, hailing from Potuakhali got admitted with the complaints of gradual distension of abdomen along with irregular fever for last 1 month. Mother also told that her child had decreased appetite and she became irritable for last 10 days. She had no history of cough, abdominal pain, vomiting, early morning irritability or convulsion, craving for food, jaundice, any bleeding manifestations or history of blood transfusion. On examination, she was irritable, mildly pale, anicteric, afebrile, BCG mark present, vital signs within normal range. Anthropometrically, she was well thriving. Abdominal examination revealed hepatomegaly, hard in consistency, non tender. Other systemic examinations revealed normal findings.
Provisional Diagnosis: Hepatoblastoma
Points in favor Points against 1. Gradual distension of abdomen for 1 No h/o preterm delivery. month. 2. Hepatomegaly.
Differential Diagnosis:
Storage Disease
Points in favor Points against 1. Gradual distension of abdomen for 1 1. Loss of appetite. month. 2. No history of features of 2. Hepatomegaly. hypoglycemia. 3. No evidence of growth failure.
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Investigations:
CBC Hb%: 10 gm/dl ESR- 10mm in 1st hour Total WBC: 17.5×109/L Diff. count: N: 52%, L: 28% Platelet: 880 ×109/L PBF Non specific morphology. LFT SGPT: 26 U/L S. Bilirubin: 1 mg/dl PT: 13 sec APTT: 30 sec INR: 1.14 AFP > 200000 ng/ml Chest X-Ray Normal S. Creatinine 0.42 mg/dl USG of W/A Hepatomegaly with SOL in left lobe of liver possibly hepatoblastoma. Liver biopsy Liver Biopsy: The tumour composed of immature hepatocytes having eosinophilic to clear cytoplasm and small round cells arranged in sheets and trabeculae. Dx: Hepatoblastoma (epithelial type)
CT scan of whole abdomen: Liver enlarged in size, mainly left lobe. Extensively large heterogeneously hypodense mass lesion with intralesional multifocal necrotic areas noted in the left lobe of liver. The mass measuring about 9.9 cm x 6.8 cm in size. Impression: CT features consistent with large hepatoblastoma in left lobe of liver.
Final diagnosis: Hepatoblastoma
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CASE-28
Presenting Complaint:
o Yellowish discoloration of eyes since 6 months of age.
Case Summary:
XX, 10-year old immunized girl, 2nd issue of her consanguineous parents hailing from Tangail got admitted with the complaint of yellowish discoloration of sclera since her 6 months of age which was mild, never disappeared fully rather aggravated during fever, common cold and cough and sometimes during her school exams. But, after a brief period it decreased spontaneously without any treatment. She had no h/o constipation, delayed passage of meconium, abdominal distension or such type of illness in the family. She was treated with Phenobarbitone for 6 months without any significant improvement. On examination, she was mildly pale and icteric. Vital signs were within normal limit. She was anthropometrically well thriving. On abdomen examination, there was no organomegaly or sign of ascites. Other systemic examinations revealed no abnormality.
Provisional Diagnosis: Gilbert Syndrome
Points in favor - Consanguinity present. - Mild jaundice since 6 months of age. - Jaundice aggravated during fever, infection and stress.
Differential Diagnosis: Crigler-Najar Syndrome Type 2
Points in favor Points against - Consanguinity present. - Not responding to Phenobarbitone. - Jaundice since 6 months of age. - Mild jaundice. - Jaundice aggravated during infection, stress. Hypothyroidism
Points in favor Points against Prolong jaundice. No H/o delayed passage of meconium. No characteristic features.
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Plan of Investigations: - CBC with reticulocyte count to exclude haemolysis. - Fractionated bilirubin. - Liver function tests. -Investigations for diagnosis and to exclude other etiology. CBC Hb : 11.9 g/dl TC of WBC : 9,500/cmm DC: N: 53%, L: 36% Platelet : 2,50,000/cmm PBF No features of haemolysis To differentiate direct or indirect S. Bilirubin Total- 3.9mg/dl hyperbilirubinaemia Indirect -3.5mg/dl Direct- 0.4mg/dl To see features of haemolysis : Reticulocyte count- 1.48% (N) To exclude other causes S.TSH :1.96uIU/ml F. T4 : 1.34 ng/dl S. ALT : 14U/L PT: 12.7sec, INR : 1.06 HBsAg Negative Urine R/E Pus cell : 0-2/HPF RBC : Nil Albumin : Trace For Wilson Disease S. Ceruloplasmin : 22mg/dl Urinary copper : 50ugm/day Slit lamp exam : KF ring absent Auto-immune markers Anti LKM-1 : Negative Anti SMA : Negative Total Ig G : 10.9g/dl
Final Diagnosis: Gilbert Syndrome.
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Pediatric Case Diary
CASE-29
Presenting Complaints:
o Yellow discoloration of skin and eyes for 1 month. o Fever for same duration. o Itching all over the body for same duration.
Case Summary: XY, 4-year old boy, immunized, 2nd issue of non-consanguineous parents, hailing from Dhaka was admitted with the complaints of jaundice, pale stool, dark urine and pruritus all over the body for 1 month. He also had low grade intermittent fever, anorexia and nausea for same duration. He had no h/o abdominal pain, taking any street food, blood and blood products transfusion, any surgical procedure, altered sleep pattern or behavior, bleeding manifestation, family history of liver disease, weight loss, cough or contact with any TB patient. On examination, he was alert, oriented, mildly pale, deeply icteric, on skin survey scratch marks present in different parts of the body. There were no features of encephalopathy. Vitals were within normal limit. He was anthropometrically well thriving. There was non tender hepatomegaly with para-aortic lymphadenopathy. Other systemic examinations revealed no abnormality.
Provisional Diagnosis:
Acute Viral Hepatitis most likely Hepatitis-A (Resolving)
Points in favor From history: ➢ Jaundice. ➢ Pale stool, dark urine, pruritus. ➢ Fever. ➢ Anorexia, nausea. On examination: ➢ Icteric. ➢ Hepatomegaly present. Differential Diagnosis: Obstructive Jaundice due to Lymphoma. Abdominal Tuberculosis.
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Points in favor for Obstructive Jaundice From history: ➢ Jaundice. ➢ Pale stool, dark urine, pruritus. ➢ Anorexia, nausea. On examination: ➢ Icteric. ➢ Scratch mark present in different parts of body. ➢ Hepatomegaly present. ➢ Intra abdominal Lymphadenopathy (Para-aortic).
Points in favor for Lymphoma Points against From history: ➢ No characteristic fever. ➢ Fever. ➢ No ascites. ➢ Anorexia, nausea. ➢ No h/o weight loss. On examination: ➢ Hepatomegaly present. ➢ Intra abdominal lymphadenopathy (Para-aortic).
Points in favor for Abdominal tuberculosis Points against
From history: ➢ No contact history. ➢ Jaundice. ➢ No h/o weight loss. ➢ Pale stool, dark urine, pruritus. ➢ BCG mark present. ➢ Anorexia, nausea. On examination: ➢ Mildly Pale. ➢ Hepatomegaly present. ➢ Para-aortic lymphadenopathy.
Investigation Plan: Liver function test: S. Bilirubin ALT PT, INR
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To establish diagnosis: Anti HAV IgM Anti HEV IgM To exclude differentials: S. LDH MT CXR USG of whole abdomen Others: ➢ CBC with PBF ➢ S. Creatinine ➢ Urine R/E
Investigations: CBC Hb% : 9.9 gm/dl TC of WBC : 13,000/cmm DC of WBC : N-53%, L-40%,M-3%, E- 4% Platelet : 7,20,000/cmm ESR : 85 mm in 1st hour. PBF Mild Normocytic Normochromic anemia with thrombocytosis. LFT S. Bilirubin- 8.6 mg/dL Direct Bilirubin- 6mg/dL ALT- 123 U/L PT- 12.5 sec INR- 1.04 Urine R/E Protein : Nil, Pus cell : 0-2/HPF, Epithelial cell :2-3/HPF, RBC : Nil/HPF Bilirubin +++ , No casts Mantoux test 02 mm LDH 274 U/L Viral marker Anti HAV IgM - Negative Anti HEV IgM - Negative USG whole abdomen - Marked lymphadenopathy at para-aortic, portahepatis and left iliac fossa. - GB: distended with biliary sludge
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- Dilated biliary tree - CBD caliber about 9mm - No infiltration in liver and spleen. Bone marrow study Uninvolved bone marrow. USG guided biopsy from abdominal Sections showed small fragments of lymphoid tissue lymph node and histopathology which revealed malignant tumour composed of cells having hyperchromatic oval nucleus with scanty cytoplasm. The cells were arranged diffusely and in rosettes formation. Dx: Small blue round cell tumour Possibilities -Neuroblastoma, High grade lymphoma. Adv: Immunohistochemistry .
Final Diagnosis:
Obstructive Jaundice due to malignant growth (Neuroblastoma/Lymphoma)
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CASE-30
Presenting Complaints: o Yellowish discoloration of skin and eyes for 20 days. o Abdominal distension for same duration. o Fever and respiratory distress for 7 days.
Case Summary:
XX, 10-year old girl of non consanguineous parents presented at the outpatient department of pediatric gastroenterology of BSMMU with the history of jaundice and abdominal distension for 20 days, fever and respiratory distress for 7 days. She also complained of blood mixed vomiting without any melena. Mother gave history of abdominal pain for 2 days which was diffuse in nature. Her menarche had not started yet. Her younger sister was healthy. She had no history of constipation, family history of liver disease, sib death, contact with TB patient, blood transfusion or parenteral medication. On examination, she was afebrile, moderately pale, dyspneic, leukonychia and bilateral pedal edema was present. Abdominal examination revealed splenomegaly (4 cm) and ascites. Examination of respiratory system showed diminished breath sound on left side from 2nd intercostal space downwards. Other systemic examinations were normal.
Provisional Diagnosis: Chronic liver disease with portal hypertension with spontaneous bacterial peritonitis with pneumonic pleural effusion.
Points in favor For CLD: For SBP For PHTN: - Jaundice - Ascites - Hematemesis - Leukonychia - Abdominal pain. - Splenomegaly - Bilateral pedal edema - Ascites
For pneumonic pleural effusion: - Respiratory distress - Fever - Dyspneic - Breath sound diminished on left side from 2nd intercostal space downwards
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Differential Diagnosis: Chronic liver disease with portal hypertension with SBP with hepatic hydrothorax
Points in favor (for hepatic hydrothorax) - Features of CLD. - Ascites. - Features of left sided pleural effusion. - No risk factor suggestive of tuberculosis, malignancy, cardiac pleural effusion, connective tissue disease.
Laboratory investigations:
CBC Hb: 7.6 gm/dl WBC: 5,000/cmm DC: N- 47%, L- 46%, Platelet: 1,15,000/cmm S. Albumin 16 g/l Prothrombin time, INR 41 sec (INR 3.4) SGPT 81 U/L S. Electrolytes Na+ : 136 mmol/l K+ : 3.6 mmol/l Cl – : 101 mmol/l Chest X ray Left sided pleural effusion Tuberculin test Negative Echocardiography Normal S. Ceruloplasmin 10 mg/dl 24 hours urinary copper 319 mcg/day Eye evaluations for K-F ring Bilateral Kayser-Fleischer (KF) ring HBsAg Negative Anti HCV Negative Endoscopy of UGIT Grade I esophageal varices seen. Serum LDH 246 U/L ANA Negative Pleural fluid study - Protein : 6 gm/l (transudative), - Glucose: 6.3 mmol/l. - Cytology: Total cell count 20 with 90%lymphocyte, no malignant cell. - Pleural fluid LDH and lipase : Normal - Pleural fluid ADA : Negative.
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Fig (a). Chest X-ray showing Fig (b). Chest X-ray showing Left sided pleural effusion. resolution of rt. sided hydrothorax after treatment.
Final diagnosis: Chronic liver disease with portal hypertension due to Wilson disease with spontaneous bacterial peritonitis with hepatic hydrothorax.
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CASE-31
Presenting Complaints:
o Recurrent episodes of diarrhoea for 2½ months. o H/O weight loss for same duration.
Case Summary:
XY, 10-year old boy, only issue of his deceased parents was admitted with recurrent episodes of diarrhea and marked weight loss for 2½ months, low grade, irregular fever with evening rise of temperature, anorexia and repeated attack of skin blister for last 1 year. The patient complained of chronic, painless, non-bloody, profuse watery diarrhea with a weight loss of 10kg (decreased to 18 kg from 28 kg prior to illness). There was also complaint of cough for last seven days. His father was a driver and died at his 1 year of age due to unknown disease. His mother died of Tuberculosis about 4 years back. He had no history of blood or blood products transfusion, any major or minor surgery, tooth extraction and drug abuse, no history of ingestion of unboiled cows milk. On physical examination, he was ill looking, emaciated, moderately pale (fig.2), febrile, having no signs of dehydration, no significant lymphadenopathy with normal vital signs, anthropometrically- severely underweight, severely wasted, moderately stunted, healed lesion present over abdomen and back (fig.1), no organomegaly, no intra abdominal lump or mass, bulk of 4 limbs were symmetrically reduced. Other systemic examinations revealed no abnormality.
Fig 1: Healed lesion over abdomen Fig 2: Pallor
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Provisional Diagnosis: Chronic diarrhea due to Intestinal tuberculosis
Points in favor • Recurrent episodes of diarrhoea. • Weight loss of 10 kg. • Low grade, irregular fever with evening rise of temperature, anorexia. • Mother died due to tuberculosis. On examination: • Emaciated, febrile. • Severely underweight, severely wasted, moderately stunted.
Differential Diagnosis: Immunodeficiency disorder most likely Acquired.
Points in favor • Recurrent episodes of diarrhea. • Weight loss of 10 kg. • Repeated attack of skin blister for last 1 year. • Low grade, irregular fever with evening rise of temperature, anorexia. • Father was a driver and died at his 1 year of age due to unknown disease. On examination: • Emaciated, febrile. • Severely underweight, severely wasted, moderately stunted. • Healed lesion present over abdomen and back.
Investigations:
CBC Hb : 8.9gm/dl, TC of WBC: 8,000 cells/cmm DC: N: 76%, L: 20% CXR Normal. X-ray abdomen Bowels filled with gas otherwise normal Mantoux test Negative. Sputum for AFB Negative Gene-Xpert Negative Urine R/M/E Normal. Urine C/S Normal Stool examination No red blood cells or leukocytes. Barium meal and follow through No abnormality (mucosal irregularity, ulceration, stricture of ileocecal junction)
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S. ALT 34 U/L HBsAg Negative tTg- IgA, Serum IgA, IgM, IgG Normal Upper gastrointestinal (GI) tract Multiple nodular swelling seen in 2nd part of endoscopy duodenum and biopsy was taken.
Duodenal tissue histopathology Normal. Colonoscopy Macroscopically: Normal up to terminal ileum and biopsy was taken. Histopathological report: Nonspecific colitis. Anti HIV1 and 2 Positive. Plasma HIV-RNA levels 11650 copies/mL CD4+ count 256 cells /μL
Final diagnosis: Acquired immune deficiency syndrome (AIDS) – Clinical Stage 3.
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CASE- 32
Presenting Complaints: o Fever for 6 months. o Abdominal pain for 4 months. o Alteration of bowel habit for 4 months.
Case Summary:
XX, 7-year old immunized girl, 2nd issue of her non consanguineous parents, from low socio- economic background, presented with the complaints of low grade irregular fever, mostly evening rise of temperature for 6 months with altered bowel habit and abdominal pain along with loss of appetite and weight loss for 4 months. She had altered bowel habit in the form of predominant watery diarrhoea with passage of hard stool irregularly during this period of illness.
There was H/O close contact with tuberculosis patient present within 1 year. These problems were not associated with cough, respiratory distress, chest pain, headache, convulsion, joint pain, jaundice, per rectal bleeding or skin change. Clinically, she was mildly pale, febrile, BCG mark absent, vitals were within normal limit, no lymphadenopathy and undernutrition. The shape of abdomen was scaphoid, no organomegaly, ascites absent. Other systemic examinations revealed normal findings.
Provisional Diagnosis:
Abdominal tuberculosis (Intestinal tuberculosis)
Points in favor ➢ Irregular fever for 6 months with evening rise of temperature. ➢ Abdominal pain ➢ Alteration of bowel habit ➢ H/O close contact with TB patient within 1 year ➢ H/O loss of appetite with weight loss ➢ Low socioeconomic background ➢ BCG mark absent
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Differential Diagnosis:
Inflammatory bowel disease
Points in favor Points against ➢ Abdominal pain ➢ H/O close contact with TB patient. ➢ Alteration of bowel habit ➢ BCG mark absent . ➢ Anorexia, weight loss ➢ No H/O per rectal bleeding, jaundice, ➢ Fever oral ulcer, joint pain, skin change.
Investigations:
CBC Hb% : 8.8 gm/dl WBC : 12,300/cmm DC : N -80% , L – 18% , M –01% , E – 01% Platelet: 3,20,000/cmm ESR : 88 mm in 1st hour PBF Microcytic hypochromic anaemia CRP 3mg/dl MT 15 mm S. LDH 345 U/L SGPT 10 U/L Urine R/E Normal Stool R/E Normal Urine C/S and Stool C/S No growth CXR Normal Plain X-ray abdomen Normal USG of whole abdomen Normal Colonoscopy No ulcer seen, ileo-caecal valve was distorted. Histopathology Non specific colitis Ba-follow through Possibility of chronic inflammatory lesion ( ? Tuberculosis) to be considered.
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Fig: Ba-follow through -Delayed propagation of contrast through ileo-ceacal region. -Caecum contracted and high up. -Persistent narrowing and distortion of mucosa of terminal ileum with proximal dilatation Possibility of chronic inflammatory lesion (? Tuberculosis) to be considered.
Final diagnosis: Intestinal tuberculosis
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CASE-33
Presenting Complaints:
o Fever for 2 months. o Altered bowel habit for 1 month. o Abdominal pain for 1 month.
Case Summary:
XX, 12-year old girl, completely immunized as per EPI schedule, belonging to low socio- economic background got admitted with the complaints of low grade irregular fever for 2 months with altered bowel habit and abdominal pain for 1 month. Mother also mentioned that she had loss of appetite and weight loss for same duration. She had altered bowel habit in the form of predominant watery diarrhoea with passage of hard stool irregularly during this period of illness.
There was no H/O cough, breathing difficulty, contact with TB patient, any P/R bleeding, joint pain, any skin lesion or family H/O similar type of illness. On examination, she was mildly pale, afebrile, BCG mark present, vital signs were within normal limit, no lymphadenopathy, moderately underweight, undernourished. Alimentary system examination showed painful oral ulceration, no organomegaly, no ascites, anal tag present. Other systemic examinations revealed no abnormality.
Provisional Diagnosis:
Intestinal Tuberculosis
Points in favor Points against • H/O fever. • Anal tag • Altered bowel habit. • Oral ulcer • Abdominal pain. • No H/O contact with TB patient • Weight loss, anorexia. • Low socio-economic background.
Differential Diagnosis: Inflammatory bowel disease (most likely Crohn’s disease)
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Inflammatory bowel disease (most likely Crohn’s disease)
Points in favor Points against • Abdominal pain • No arthritis • Chronic diarrhoea • No skin change • Weight loss, anorexia • Anal tag • Oral ulcer
Investigations:
CBC Hb% : 11 gm/dl WBC : 11000/cmm DC : N -81% , L – 13% , M –04% , E – 02% Platelet: 2,40,000/cmm ESR : 40 mm in 1st hour PBF Microcytic hypochromic anaemia CRP 38mg/dl MT 2 mm Stool R/M/E Normal Stool C/S No growth CXR Normal Plain X-ray abdomen Normal USG of whole abdomen Normal Colonoscopy Mucosa was fragile. Multiple aphthous ulcer was seen throughout the colon. Biopsy taken from caecum, sigmoid colon and ileal valve. Histopathology Pieces were ulcerated and lined by granulation tissue. Lamina propria contained moderate acute and chronic inflammatory cells. Endoscopy Upper GIT Lower end of esophagus and mucosa of the antrum appeared inflammed. Biopsy taken from gastric antrum. Histopathology The lamina propria contained moderate number of chronic inflammatory cells and few tiny non- caseating granulomas. The glands were unremarkable. No malignant cells. Possibility of Crohn’s disease.
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Fig: Colonoscopy of lower GI showing multiple aphthous ulcer
Barium Follow through: Contracted and high up caecum with persistent narrowing at the terminal ileum and vertically oriented distal ileum, possibly inflammatory lesion.
Final Diagnosis: Inflammatory Bowel Disease (Crohn’s Disease)
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CASE-34
Presenting Complaint:
o Per rectal bleeding for last 8 months.
Case Summary:
XX, 3-year old girl, only issue of consanguineous parents hailing from Barisal got admitted with the complaints of per rectal bleeding for 8 months. At first blood was mixed with stool, then it passed drop by drop after each defecation. Blood was fresh, bright red in color, painless, not associated with fecal matter and moderate in amount. On query, she had no h/o fever, vomiting, constipation, loose motion or bleeding manifestation from any site of body or H/O NSAID ingestion. No family history of such type of illness. O/E: She was active, playful, mildly pale, anicteric, afebrile, vitals within normal limit and underweight. Abdominal examination showed no organomegaly, ascites- absent. DRE finding was normal. Other systemic examinationsrevealed no abnormality.
Provisional Diagnosis:
Juvenile polyp most probably Rectal Polyp.
Points in favor - Painless P/R bleeding. - Blood passed drop by drop after each defecation. - Fresh bleeding. - No h/o constipation or vomiting or abdominal pain.
Differential Diagnosis:
Meckel’s diverticular bleeding
Points in favor - Painless P/R bleeding. - Fresh bleeding.
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Investigations:
CBC Hb%: 9.6 gm/dl WBC: 7,000/cmm DC: N- 42%, L- 47%, Platelet: 3,80,000/cmm ESR 05 mm in 1st hr PBF Normocytic normochromic anaemia CRP < 1.2 g/dl Stool RME Normal. Stool C/S No growth. Plane X-ray Abdomen Normal Colonoscopy findings (Seen up to splenic flexure). A large single pedunculated polyp seen 15 cm from anal verge. Histopathology of polyp tissue Hamartomatous polyp.
Fig: Polyp Fig : Hamartomatous Polyp
Final diagnosis: Juvenile colonic polyp
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CASE-35
Presenting Complaint: o Per rectal bleeding since 8 years of age.
Case Summary:
XX, 14½ year old girl, 3rd issue of non-consanguineous parents hailing from Mymensingh, presented with the complaint of fresh painless intermittent per rectal bleeding occurred usually drop by drop after defecation since her 8 years of age. She also complained of something coming out through anal verge after defecation for last 1 year. She had no other features suggestive of IBD. She had poor school performance and menstruation not started yet. On physical examination, she was mildly pale, vitals were stable, digital clubbing present, skin survey normal. Her secondary sexual characteristics did not develop (Tanner stage 1). She was severely stunted and underweight. She had pathological short stature. D/R/E revealed polypoid mass. Other systemic examinations revealed no abnormality.
Provisional Diagnosis: Inflammatory Bowel Disease most likely Ulcerative colitis.
Points in favor Points against 1. Rectal bleeding 1. Bleeding characteristics does 2. Growth failure not match with IBD 3. Digital clubbing 2. No alteration of bowel habit, 4. Secondary sexual characteristics not developed abdominal pain or tenesmus 5. D/R/E –polypoid mass 3. Learning difficulties
Differential Diagnosis: Gastrointestinal polyposis syndrome
Points in favor Points against - Fresh painless per rectal bleeding occurred - Very rare usually drop by drop after defecation - No family history - H/O something to pass out through anal verge - D/R/E –polypoid mass. - Digital clubbing - Growth failure - Learning disability
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Investigations:
CBC Hb%: 11.6 gm/dl WBC: 9,800/cmm DC: N- 54%, L- 35%, E- 08%, M- 03% Platelet: 4,65,000/cmm ESR 20 mm in 1st hr CRP < 6g/dl S. Albumin 36 g/l Stool RME and Stool C/S Normal Prothrombin time, INR 12.7 sec (INR 1.07), APTT 30 S Colonoscopy findings Multiple polyps (about 30) were found, most of them were in the rectum and sigmoid colon and few in transverse colon and other parts of colon. Histopathology of polyp tissue Hamartomatous polyp USG whole abdomen Infantile uterus, A-P diameter of uterus: 0.5 cm Both ovaries small in size. Karyotyping findings Normal LH 0.27 IU/L FSH 3.77 IU/L
Fig: Colonoscopy image showing multiple Fig: Polyps present from cardiac end to polyps antrum of stomach.
Psychological assessment: WISC-R showed –mild impairment in intellectual functioning level.
Final diagnosis: Generalized Juvenile Polyposis Syndrome.
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CASE-36
Presenting Complaint:
o Passage of black tarry stool for last 2 months.
Case Summary:
A 12-month old boy, presented with the complaint of passage of black tarry stool 1-2 times/day at 2-3days interval for last 2 months(fig.1). He had no history of fever, vomiting, abdominal pain, abdominal distension or cow’s milk allergy, ingestion of offending drugs/ toy/button. He received PRBC transfusion 5 times during the course of illness. On examination, he was ill- looking, severely pale, vitals: normal, well thriving and abdomen was non-tender, no organomegaly, bowel sound present. Other systemic examinations revealed normal findings.
Fig1: Melena
Provisional Diagnosis: Meckel’s diverticular bleeding
Points in favor for Meckel’s diverticular bleeding - Age: suggestive - Melena - Severely pale. - Received PRBC transfusion 5 times - No H/O cow’s milk allergy, ingestion of offending drugs/toy/button.
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Differential Diagnosis: Vascular bleeding
Points in favor Points against - Melena - No vascular malformation/ haemangioma. - Severely pale - Received PRBC transfusion 5 times - No H/O cow’s milk allergy, ingestion of offending drugs/ toy/button.
Investigations:
CBC Hb%: 6.8 gm/dl TC of WBC : 9000/mm3 Platelet : 3,80,000/mm3 PBF Normocytic anemia, otherwise normal. Stool routine examination RBC-6-8/HPF, Pus cell-5-6/HPF Occult blood test Positive. USG of whole abdomen Suggestive of duplication cyst or Meckel diverticular cyst intestinal atresia fluid filled dilation area measuring 7.6cm× 5.9cm seen at right iliac region. Meckel’s scan Heterotopic gastric mucosa in gut wall in hypogastrium. Esophagogastrodudenoscopy Normal. Digital Barium meal of stomach, duodenum A large globular compressive effect seen in and follow through lower part of abdomen little towards left, compressing distal bowel loops with gross narrowing of recto-sigmoid region. Possibility of cystic mass in lower part of abdomen to be considered. Barium enema No organic lesion in large gut.
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Fig 2: Barium follow through
After correction of anaemia, laparotomy was done. A duplication cyst was seen 10 cm from duodenojejunal junction, measuring about (10×8) cm arising from upper part of jejunum. Excision of duplication cyst and adjacent gut with end to end anastomosis was done. Postoperative period was uneventful. He was discharged on the 10th postoperative day. The resected intestinal loop was sent for histopathological examination.
Fig 3: Resected duplication cyst
Histopathology: Two mucosal layers sharing a submucosa within muscular layer. Gastric mucosal lining seen. No malignancy found.
Final Diagnosis: Duplication cyst of jejunum. 117
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CASE-37
Presenting Complaints: o Abdominal distension for 9 months. o Jaundice for same duration. o Not growing well along with scaly skin lesion for 9 months.
Case Summary: A 17-month old girl, only issue of non-consanguineous parents, immunized as per EPI schedule, presented with history of abdominal distension (Fig.1), jaundice, not growing well along with scaly skin lesion over scalp, chest, palm and sole for 9 months. She was reasonably well 9 months back. Then she developed abdominal distension which was increasing day-by-day associated with gradually deepening jaundice. There was also a history of irregular fever and cough for 1 month. Fever was high-grade, irregular in nature, subsided by taking antipyretics in conjunction with non-productive cough. There was no history of contact with the tuberculosis patient, any surgery or dental procedure, family history of liver disease, but there was history of 1 unit blood transfusion. On physical examination, she was dyspneic, febrile, mildly pale and icteric. Her respiratory rate was 48 breaths/min, SPO2 : 95% without supplemental O2 at room air, blood pressure was within normal limit. There were digital clubbing, multiple red papular, non-itchy skin lesion on both palms and soles and diffuse scaly, erythematous lesion on the scalp (fig.2), and BCG mark was present. There was no lymphadenopathy. She was severely wasted, stunted and underweight. On systemic examination, abdominal distension with huge hepatosplenomegaly and ascites were found. There were wheeze and crackles present on both lung fields. Provisional Diagnosis: Chronic liver disease with portal hypertension with pneumonia.
Points in favor for CLD
- Jaundice for 9 months - Ascites - Hepatomegaly - Clubbing present
Points in favor for Portal hypertension Points against - Splenomegaly - No H/O gastrointestinal bleeding
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Points in favor for pneumonia - Fever and cough for 1 month. - Wheeze and crackles were present on both lung fields.
Fig 1: Abdominal distension due to ascites
DifferentialFig: Erythematous Diagnosis: rash Langerhans over scalp, cell face histiocytosis and hand. (multisystem disease)
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Points in favor for Langerhans cell Points against histiocytosis-multi system disease - Jaundice. Rare disease. - Ascites. - Hepatosplenomegaly. - Clubbing. - Diffuse scaly and erythematous lesion on the scalp. - Multiple red popular, non-itchy skin lesion on both palms and soles. - Wheeze and crackles were present on both lung fields.
Investigations: CBC Hb: 8.6 gm/dl, WBC: 10,000/cmm DC: N- 25%, L- 65%, Platelet: 1,50,000/cmm ESR : 120 mm in 1st hr PBF Normocytic normochromic anaemia LFT S. bilirubin: Total- 9.2mg/dl PT: 14 sec , INR: 1.2 S. ALT: 238 U/L S. albumin : 27 g/L Mantoux test 02 mm Chest X-ray Consolidation in both lung fields X-ray skull (both view) Normal X ray of both hip joints, knee joint Lytic lesion in right tibia and left femur. and ankle joint USG whole abdomen Hepatomegaly with coarse echotexture with multiple ill defined nodules in both lobes of the liver. Bone marrow study Mature marrow with increase erythroid hyperplasia. Skin biopsy Mixed infiltrate of Langerhans cells, lymphocytes and occasional eosinophils in the upper dermis. Immunohistochemical analysis was performed with anti- CD1a, S100 and CD68 primary antibodies.
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Fig (a): Consolidation in both lung fields Fig (b): lytic lesion over tibia as shown by arrows
Fig 3(C) Fig 3(A) Fig 3(B)
Histopathological features of the skin biopsy H and E, 20x showing the Langerhanscellhistiocytosis (A, within circles); Immunohistochemistry 40x showing the CD1a (B) and S100 (C) positivity (arrows).
Final diagnosis: Langerhans cell histiocytosis (multi system disease)
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CASE-38
Presenting Complaints: o Excessive belching, nausea and occasional vomiting for 2 months. o Abdominal distension for same duration.
Case Summary: A 9-year old boy presented with the history of excessive belching, mild anxiety, nausea and occasional vomiting for last two months. Mother also noticed abdominal distension which occurred at evening and symptoms aggravated. He had no history of abdominal pain, fever, growth failure or developmental delay. On examination, he was afebrile, respiratory rate 24 breaths/minutes, pulse 85 beats/minutes, blood pressure 90/50 mm Hg and dehydration absent. Anthropometrically, he was well thriving. His abdominal girth was 45 cm at morning and 52 cm in the evening. He was also observed with excessive swallowing of air during feeding which was audible. The abdomen was distended and moved with respiration. There was no area of tenderness. There was no palpable abdominal mass and bowel sound was present. Other systemic examinations revealed normal findings.
Provisional Diagnosis: Aerophagia
Points in favor From history: - Excessive belching, nausea and occasional vomiting. - Abdominal distention specially at evening. On examination: - Excessive swallowing of air during feeding which was audible. - Gaseous distention of abdomen.
Differential Diagnosis: Subacute intestinal obstruction
Points in favor Points against From history: Excessive belching, nausea and - Abdominal pain and constipation occasional vomiting. absent. On examination: Gaseous distention of - Excessive swallowing of air during abdomen. feeding which was audible. - Bowel sound normal
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Investigations: Plain abdominal radiograph showed gaseous distension of the small and large intestines without any features of obstruction (Fig: 1). Serum TSH, FT4, Barium follow through and Barium enema reports all were normal. Neuropsychiatric consultation showed mild anxiety and considered aerophagia as a stereotype symptom.
Fig: Distended bowel loops
Final Diagnosis: Aerophagia
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CASE-39
Presenting Complaints:
o Yellowish discoloration of skin and eyes since 4th day of life. o Reluctant to feed for 2 days. o Poor activities for same duration. Case Summary:
S/O XX, outborn baby, 2nd issue of his non-consanguineous parents admitted in NICU, BSMMU on 6th day of life with the complaints of yellowish discoloration of skin, reluctant to feed with poor activities since 4th day. Mother XX, 18 years old lady, Para- 2, having blood group O (-)ve, had only one ANC visit in last trimester. Father’s blood group was ‘O’ (+)ve. First baby was born at term at home without any perinatal complication. Mother’s Rh Ab titer was not done and no H/O taking Anti-D injection in both pregnancies. She had no obstetric complications. A male baby was delivered at home at term by a dai. Baby cried immediately after birth and started breast feeding at around 2 hours of age. Baby passed meconium at 3 hours of age. Baby’s perinatal transition was uneventful but developed jaundice on 4th day of life along with reluctance to feed and poor activities. With these complaints, the baby was admitted consecutively in 2 hospitals where along with supportive treatment counseling for exchange transfusion was done. But due to financial constraints, he was admitted in NICU, BSMMU. Baby was transported in mother’s lap in an ambulance with proper wrapping and transportation time was around 1 hour. On query, there was no H/O fever, birth trauma, convulsion, altered consciousness, significant neonatal jaundice in previous sib or family H/O liver disease, jaundice, anaemia in neonatal period.On examination, baby was conscious, mildly pale, icteric upto palm and sole, irritable, retrocollis- present, well perfused, euglycemic, maintaining saturation in room air, vitals were within normal limit, anterior fontanelle- normal, anthropometric parameters were within the centile chart, tone increased in all 4 limbs, jerks- normal, no hepato- splenomegaly. Other systemic examinations revealed normal findings.
Fig: Yellowish discoloration of skin Fig: Yellowish discoloration of sole
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Provisional Diagnosis: Term (40 weeker), AGA (3000g) with acute bilirubin encephalopathy due to Rh isoimmunization.
Points in favor • B/O Rh negative mother. • No H/O taking anti-D injection. • Deeply icteric upto palm and sole. • Features of encephalopathy present.
Treatment on Admission: ▪ Counselling done regarding nature, management and prognosis of the disease. ▪ Thermal care. ▪ Preparation was taken for double volume exchange transfusion. ▪ Double surface phototherapy started in the mean time. ▪ Nothing per oral. ▪ I/V fluid started ▪ Inj. Meropenem ▪ Inj. Amikacin Investigations (Before admission):
CBC Hb: 14.1gm/dl TC of WBC: 13,000/ cumm of blood DC: N- 58%, L- 30% Platelet: 2,40,000/cumm of blood PBF Nonspecific morphology TSB 38.2 mg/dl (PT level-17, Ex Level-22.5) Blood grouping and Rh typing ‘O’ +ve Direct Coomb’s test Positive S. Electrolytes Na+: 141 mmol/L, K+: 4.2 mmol/L Cl- :100 mmol/L, TCO2- : 26 mmol/L S. Calcium 8.6 mg/dl
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Investigations done (after admission):
CBC Hb: 11.4 g/dl TSB 27.6 mg/dl (PT level-17 mg/dl EX level- 22.5 mg/dl) S. Calcium 8.2 mg/dl
Specific Treatment
• Double volume exchange transfusion was done by ‘O’ (–) ve blood 7 hours after admission.
Investigations done (post-exchange):
Investigations Immediate 8 hours later Hb : 12.8 g/dl Total S. bilirubin 11.2 mg/dl 13.7 mg/dl (PT level-17mg/dl RBS 6.4 mmol/L S. Electrolytes : Na+: 146 mmol/L, K +: 3.6 mmol/L Cl- :96 mmol/L, TCO2- 31 mmol/L
S. Calcium : 8.3 mg/dl
Follow up on D8:
2 episodes of active convulsion persisted for around 30 seconds 4 hours apart
SPO2- 94% in room air, R/R- 56/min, H/R-162/min, Temp- 98.5̊ F, CBG-4.8 mmol/L
Management:
- Loading dose followed by maintenance of Phenobarbitone was given.
- Antibiotic changed to Cefepime and Colistin
- Septic screening was done.
• Normal except CRP- 14.9mg/L (↑) • Blood C/S – negative
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• CSF study- normal. • S. Electrolytes - Normal • S. Calcium- Normal • S. Magnesium- Normal • There was no further convulsion, so Phenobarbitone was stopped after being convulsion free for 3 days and antibiotic continued for 7 days.
• Patients was alert, no more irritable, tone became normal, good reflexes in next couple of days. So, feeding gradually increased to breast feeding on demand.
• Hearing screening of both ears was done - normal.
• MRI of brain was done before discharge-Focal symmetric T1 W1 hyperintensity at both globuspallidus and subthalamic regions that were isointense on T2 W1- consistent with bilirubin encephalopathy.
Final Diagnosis: Term (40 weeker), AGA (3000g) with acute bilirubin encephalopathy (Intermediate phase) due to Rh isoimmunization.
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CASE-40
Presenting Complaint:
o Respiratory distress since birth.
Case Summary:
S/O XX, 10 hours of age, outborn, postdated (41wks), LGA (4.23kg) got admitted with the complaints of respiratory distress since birth. Mother XX, 21 years old primi, was on regular ante-natal check up. Baby was delivered at 41 weeks of gestation by LUCS due to post datedpregnancy with obstructed labour and PROM for 28 hrs. Baby cried immediately after birth but developed respiratory distress.
On examination, baby was pale, had gasping respiration, HR-162/m, SPO2:64%, chest was bulged, air entry was moderate in right lung and diminished in left side, bowel sound was auscultated on left side of chest. Apex was shifted to right. Other systemic examinations revealed no abnormality.
Provisional Diagnosis: Post dated (41 wks), LGA (4320 gm) with Left sided Congenital Diaphragmatic Hernia.
Investigations:
CBC Hb- 16 gm/dl TC WBC- 19,330/cmm Platelet – 3,21,00/cmm DC : N- 66% , L- 22% I:T – 0.056 PBF No specific findings. CRP 6 mg/L Blood urea 16 mg/dl Blood group B (+) ve Blood C/S No growth. S. Creatinine 0.7 mg/dl S. ALT 60 U/L S. AST 35 U/L Prothrombin Time 13.6 sec S. Electrolytes Na+ : 133mmol/L , K+ : 4.1 mmol/L , Cl- : 95.4 mmol/L ABG Report PH : 7.40, PCO2 : 44.3, PO2 : 110 HCO3: 28.2
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Fig: Chest X-ray including upper abdomen of a neonate demonstrates the left hemithorax to be filled with multiple radiolucent regions, with displacement of the cardiac silhouette to the right. The ET tube is noted within trachea. gas distended stomach is noted at left upper abdomen. Suggestive of congenital diaphragmatic hernia (possibly Bochdalek type) with hypoplastic left lung.
Final Diagnosis: Post dated (41 wks), LGA (4320 gm) with Left sided Congenital Diaphragmatic Hernia.
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CASE-41
Presenting Complaint:
o Protrusion of abdominal content since birth. Case Summary:
D/O XX, 30 minutes of age, inborn, 5th issue of non consanguineous parents, hailing from Mirpur got admitted with the complaints of protrusion of abdominal content since birth. Mother XX, 25 years old, having blood group O (+)ve, was on regular ANC. Her antenatal period was uneventful until 13 weeks of gestation then regular USG revealed omphalocele. At 36 weeks of gestation, she had undergone LUCS, a female baby was born, weighing 2850 gm. Baby cried immediately after birth. APGAR score was 8/10 at 1 minute and 9/10 at 5 minute. Then baby was transferred to NICU.
On general examination, baby was pink in air, anicteric, reflexes and activities were good, vital signs were within normal limit, CRT: 2sec, CBG: 4.3 mmol/L. Anterior fontanelle: open and normal, back and spine normal, genitalia female pattern, anus- patent. Anthropometry was within normal limit. Abdominal proper examination revealed herniation of abdominal content along with umbilical cord through a defect in the anterior abdominal wall enclosed by a thick translucent membrane, no organomegaly and bowel sound was present. Other systemic examinations revealed normal findings.
Diagnosis: Pre term (36 weeker), AGA (2850 gm) with omphalocele.
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CASE-42
Presenting Complaints:
o Repeated convulsion since 5 days of age. o Persistently low blood sugar since birth.
Case Summary: XX, 3-month old girl, only issue of consanguineous parents hailing from Comilla got admitted with the complaints of repeated seizure since 5 days of age and persistently low blood sugar since birth. During seizure, her blood sugar was usually found low and seizure resolved by glucose administration. She also received Syp. Phenobarbitone and Oxcarbamazepine for seizure. With these treatment, her condition did not improve significantly. She had no h/o repeated vomiting or diarrhea, poor feeding, pigmentation of skin or abnormal genitalia, prolonged fasting before seizure, maternal h/o GDM or family h/o such type of illness. Her birth weight was 4.5 kg. She had no h/o perinatal asphyxia. O/E she had no facial dysmorphism. CBG-1.4 mmol/l. Vitals were within normal limit. Benedict test was negative. She was well thriving but had developmental delay. No organomegaly present. Nervous system examination showed no abnormality. Other systemic examination revealed normal findings.
Provisional Diagnosis: Persistent hyperinsulinemic hypoglycemia of infancy (Nesidioblastosis)
Point in favor
• H/O LGA baby. • H/O hypoglycemia on 1st day of life. • Repetitive hypoglycemia inspite of getting I/V fluid. • H/O repeated seizure relieved by dextrose saline. • H/O consanguinity. • O/E: CBG- 1.4 mmol/l • Nervous system examination- normal.
Differential Diagnosis:
Fatty Acid Oxidation Defect
Glycogen Storage Disease
Counter regulatory hormone deficiency - Hypopituitarism
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Fatty Acid Oxidation Defect
Points in favor Points against
• Persistent hypoglycemia. • Seizure not following prolonged • Consanguinity present. fasting. • No hypotonia.
Glycogen Storage Disease
Points in favor Points against
• Persistent hypoglycemia. • No h/o fasting before seizure or • Repeated seizure associated with hypoglycemia. hypoglycemia. • Well thriving. • Consanguinity present. • No feature of characteristic facies. • No Organomegaly.
Counter regulatory hormone deficiency - Hypopituitarism
Points in favor Points against
• Persistent hypoglycemia. • Seizure not following prolonged fasting. • No h/o shock. • No midline facial defect. • Vitals- normal.
Plan of investigations:
All blood samples collected in hypoglycemic state (critical sample) and urine collected during 1st voiding after hypoglycemia.
• To confirm PHHI: RBS, Corresponding plasma insulin level, Urinary ketone body. • To exclude other metabolic abnormalities: S. Lactate, Plasma ammonia, Arterial blood gas analysis, Urine for reducing substance
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• To exclude deficiency of counter-regulatory hormones: -Cortisol and growth hormones in critical blood sample • For seizure: EEG, Neuroimaging Investigations
RBS 2 mmol/l Plasma insulin 8.80 micro u/L (↑) Urine for ketone body Absent Urine for reducing substance Nil S. Lactate 2.09 mmol/l Plasma ammonia 92 micromol/l Arterial blood gas analysis pH- 7.426 PO2-83 mmHg PCO2-35.5 mm Hg HCO3- 23.3 mmol/L S. Cortisol 244 nmol/l Growth hormone 9.27 ng/ml EEG Normal findings
Fig: Mild cortical atrophy
Final Diagnosis: Persistent hyperinsulinemic hypoglycemia of infancy,
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CASE-43
Presenting Complaints:
o Pain and swelling of right knee joint for 2 years. o Fever for same duration.
Case Summary:
XY, 4-year old immunized boy, only issue of his non-consanguineous parents, hailing from Bhola, was admitted with the complaints of pain and swelling of right knee joint for 2 years which was sometimes severe enough to hamper his daily activities. He also had fever for same duration which was low grade, irregular in nature, mostly evening rise, highest recorded temperature was 101℉, not associated with chills and rigor and subsided after taking antipyretics. He had h/o contact with TB patient and weight loss. There was no history of trauma, rash, bleeding manifestation or convulsion. For this illness, he was treated with several drugs but mother couldn’t mention the name. On examination, he was ill- looking, mildly pale, BCG mark present. Cervical lymphadenopathy was present, largest one measuring about 2x2cm, firm in consistency, matted, non tender, not attached to overlying skin or underlying structures. Vitals were within normal limit. Anthropometrically, he was moderately underweight. Locomotor system examination revealed features of arthritis in the right knee joint. Alimentary system examination showed hepatomegaly. Other systemic examinations revealed normal findings.
Fig 1: Arthritis of Rt. knee joint
Provisional diagnosis: Disseminated TB
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Pediatric Case Diary
Points in favor From history: • Fever for 2 yrs • Pain and swelling of the right knee joint • H/O contact with TB patient • H/O weight loss On examination: • Lymphadenopathy • Hepatomegaly • Features of arthritis in right knee joint present
Differential diagnosis: Systemic JIA Points in favor Points against From History: 1. No characteristic fever 1. Fever 2. No rash 2. Swelling and pain in the right knee joint On examination: 1. Lymphadenopathy 2. Features of arthritis in the right knee joint 3. Hepatomegaly present
Investigations: CBC Hb: 10.3 gm/dl TC: 16000/mm³ DC : N- 41% , L- 49% Platelet : 500000/mm³ ESR: 48 mm in 1st hour Urine R/M/E Normal Mantoux Test 18mm SGPT 29 U/L S. Creatinine 0.26 mg/dl Synovial fluid aspiration and study for Report: cytology, ADA and biochemistry - Color : straw color - TC: 5000/mm3 - Neutrophil-30% - Lymphocytes-70% - Protein- 51gm/L - Glucose- 4.1mmol/L - ADA- 41.5 U/L
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Fig: Mantoux Test -18mm Fig: Swollen X-ray knee joint
Fig: Chest X-ray Fig: Aspirated synovial fluid
Final diagnosis: Disseminated TB
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CASE-44
Chief Complaints:
o Swelling of left side of neck for 4 months. o Low grade fever for same duration. o Weakness and weight loss for same duration.
Case Summary:
XX, 8-year old girl, immunized, got admitted with the complaints of swelling of left side of neck for last 4 months which was gradually increasing. She also had fever which was low grade, intermittent, mostly occurring in the evening, temperature was never recorded, not associated with chills and rigor. She also had weakness and weight loss for same duration. Weight loss was about 3 kg in last 4 months. She had no H/O cough, respiratory distress, dysphagia, hoarseness of voice, facial swelling, no bowel bladder disturbance, headache, convulsion, drenching sweating, bony tenderness and had no H/O contact with tuberculosis patient. On examination, she was conscious, vitals were within normal limit, left sided cervical lymphadenopathy present. Anthropometrically, moderately underweight and severely stunted. On systemic examination including respiratory system revealed normal findings.
Provisional Diagnosis:
Tubercular lymphadenitis (cervical)
Points in favor Points against • Palpable lymph node • No contact with TB patient • Evening rise of temperature • Weakness • Weight loss
Differential Diagnosis:
Lymphoma
Points in favor Points against • Fever • Absence of drenching night • Weight loss sweating. • Enlarged lymph node
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Investigations
CBC Hb%: 10.2 g/dl ESR: 45 mm in 1st hr TC of WBC: 6400/cumm Platelet: 4,50,000/cumm Neutrophils- 50% Lymphocytes- 39% S.LDH 585 IU/L Mantoux test (PPD 10TU/0.1ml) 12mm after 72hrs of inoculation Sputum for AFB Absent FNAC of Submandibular lymph node (left) Smear showed few granulomas composed of epithelioid cells. Areas of caseous necrosis were also present, background showed many lymphocytes, histiocytes and blood. No malignant cell is seen. Dx: Granulomatous inflammation, cytologically consistent with tuberculosis. X-ray Chest (P/A View) No abnormality detected Excisional Biopsy of submandibular lymph Caseous necrosis, suggestive of node tuberculosis
Final Diagnosis: Tubercular Lymphadenitis (Cervical)
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CASE-45
Presenting Complaints: o Low back pain for 5 months. o History of fever for 1 month along with loss of appetite and gradual weight loss.
Case Summary:
XX, 12-year, female, 4th issue of her parents, immunized, resident of Malibagh, presented with low back pain for 5 months which was stabbing in nature, aggravated on coughing in supine position and forward bending. She also complained of pain in left iliac region which was dull aching in nature with no aggravating or relieving factors and not associated with nausea, vomiting or altered bowel habit. She also had pain in right thigh, which aggravated on excessive movement. There was history of irregular low grade fever, with evening rise pattern for 1 month along with loss of appetite and gradual weight loss. However, there was no history of cough, respiratory distress, contact with TB patient, bowel and bladder dysfunction, H/O trauma, carrying heavy bagpacks, or doing household chores. Her above complaints persisted despite treatment with Syp. Paracetamol, Syp. Ciprofloxacin and Syp Metronidazole in adequate dose and duration. She studied in Madrasa in Grade 4. She came from low socioeconomic background and her house was overcrowded and poorly ventilated. On general examination, she was well alert, mildly pale, lymph node not palpable, BCG mark present. Vital signs were within normal limit. Anthropometrically, her height :137cm (below 5thcentile), weight: 31.6kg (between 5th and10th centile). On Locomotor system examination, examination of spine revealed presence of gibbus at L1-L2 level, size 3 x 3 cm, restriction of movement (ROM) present during flexion, Coin sign positive. Examination of alimentary system revealed mass present in both iliac region, but more prominent in left iliac region which had ill-defined margin, 8 x 8cm in size, firm in consistency, mildly tender, immobile, overlying skin normal. No discharging sinus present. Psoas sign: negative. Other systemic examinations including nervous system revealed normal findings.
Provisional Diagnosis: TB spine with B/L Psoas abscess
Points in favor Points against ➢ Low back pain for 5 months. ➢ No H/O contact with tuberculosis ➢ Low grade fever with evening rise. patient. ➢ Low socioeconomic background ➢ BCG mark present ➢ Overcrowded environment in both house and reading place
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B/L Psoas abscess
Points in favor: Mass present in both iliac regions, but more prominent in left iliac region which had ill-defined margin, 8 x 8cm in size, firm in consistency, mildly tender, not fixed to underlying structure, overlying skin normal. Differential Diagnoses:
Spine tumor
Points in favor Points against Low back pain for 5 months. ➢ Low grade fever with evening rise. ➢ No paraplegia/paraparesis. ➢ No bowel bladder involvement. ➢ No sensory involvement Spine trauma
Points in favor Points against Low back pain for 5 months. ➢ Low grade fever with evening rise. ➢ No H/O spine trauma.
Fig: Our case with abnormal posture
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Investigations:
CBC Hb: 10.6 g/dl, ESR: 60 mm in 1st hour WBC(TC): 11,500/cmm DC : N: 53,E: 04%, L: 39% ,M: 04% Platelet Count: 3,47,000/cumm Mantoux test 20 mm Sputum for AFB Not found Urine R/M/E Epithelial cell: 4-6 /HPF Pus cell: 1-2/HPF S. ALT 58 U/L USG of both iliac region Bilateral large psoas abscess Xray of Dorsal spine A/P & lateral Dorsal kyphotic curvature slightly straightened, views otherwise unremarkable findings in dorsal spine.
Xray of lumbo-sacral spine A/P Vertebral body height of L1 & L2 vertebrae are and lateral views reduced in height resulting focal kyphosis. Disc space at L1-L2 level is reduced with adjacent end plate irregularities. Sclerosis is also noted involving bodies of L1 & L2 vertebrae. Bilateral psoas outline is obliterated. Comment - Infective spondylodiscitis involving L1 & L2 vertebrae. Non- contrast axial T2 sequence shows: MRI Body height of L1 & L2 vertebrae are reduced with focal kyphosis. Disc space at L1-L2 level is reduced with adjacent end plate irregularities. Hyperintense signal change involving L1, L2 vertebral bodies and disc in between is noted. Large well-defined round T2 isointese lesions noted in both psoas regions. No epidural abscess is noted and spinal canal is normal in diameter. Post-contrast axial T1 sequence shows: Heterogenous enhancement of L1, L2 vertebral bodies and disc in between. Smooth rim enhancements of the both psoas lesions are noted. MRI comment - Infective spondylodiscitis involving L1 & L2 vertebrae and bilateral psoas abscess - possibly tubercular.
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Fig: X-ray D/L spine
Fig: Xray L/S spine
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Fig: MRI of Spine
Final Diagnosis: Tubercular spondylitis at L1 –L2 level with psoas abscess (bilateral)
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Pediatric Case Diary
CASE-46
Presenting Complaints:
o Passage of hard stool for 4 months. o Less activity since birth. Case Summary:
XX, 4 ½ month old girl, only issue of non consanguineous parents hailing from Mymensingh got admitted with the complaints of passage of hard stool since 15 days of age and less activity along with excessive sleepiness since birth. She had H/O prolonged neonatal jaundice. For the above complaints, she was treated by local physician with glycerine suppository and multivitamins without significant improvement. On examination, she had coarse facies, depressed nasal bridge with large protruded tongue. There was mild anaemia with open anterior and posterior fontanelle. Skin was dry and rough. Anthropometrically, she was moderately underweight and moderately stunted. She had generalized hypotonia and gross developmental delay. Other systemic examination revealed normal findings.
Provisional Diagnosis: Congenital Hypothyroidism
Points in favor History- • Excessive sleepiness • Passage of hard stool • H/O prolonged neonatal jaundice O/E- • Characteristic facies • Protruded tongue • Generalized hypotonia • Developmental delay present Differential Diagnosis: Down Syndrome
Points in favor Points against - Depressed nasal bridge - Less activity - Protruded tongue - No simian crease or clinodactyly - Generalized hypotonia - No low set ear or epicanthic fold - Developmental delay
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Investigations:
Thyroid function test FT3 : 1.04pg/ml (1.40-4.20pg/ml) FT4 : 1.03 ngm/dl (0.80-1.80ngm/dl) TSH : >150 uIU/ml (0.80- 9.00uIU/ml) USG of thyroid gland Normal size thyroid gland with inhomogenous parenchyma.
X-ray knee joint: Absence of distal femoral and proximal tibial epiphysis.
Final Diagnosis: Congenital Hypothyroidism
Another case:
Fig: A 14-month old girl with congenital hypothyroidism.
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Pediatric Case Diary
CASE-47
Presenting Complaints:
o Enlargement of clitoris for last 1 year.
o Appearance of pubic hair for last 4 months.
Case Summary:
XX, 22-month old girl, 2nd issue of non consanguineous parents, presented with the complaints of progressive enlargement of clitoris for 1year, premature pubarche along with gradually increasing body hair for last 4 months. There was no H/O adrenal insufficiency, other features of precocious puberty and exposure to drugs. On examination, she was playful, had muscular built, hirsutism present, normotensive, anthropometry showed accelerated growth, genitalia showed normal vaginal and urethral opening, clitoromegaly (length- 2.3cm). Tanner staging for girls revealed isolated premature adrenarche. Other systemic examinations revealed normal findings.
Fig: Muscular built
Differential Diagnosis: Disorders of sex development (46 XX) due to
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Pediatric Case Diary
1. Congenital adrenal hyperplasia 2. Isolated premature adrenarche 3. Virilizing adrenal tumor Congenital adrenal hyperplasia Points in favor 1. Clitorial enlargement 2. Normal urethral and vaginal opening 3. No palpable gonads 4. Muscular built 5. Hirsutism Isolated premature adrenarche
Points in favor Points against
1. Clitorial enlargement 2. Premature pubarche 3. Hirsutism 4. Muscular built 5. Growth acceleration Virilizing adrenal tumor
Points in favor Points against 1. Clitorial enlargement 1. No skin change 2. Premature pubarche 2. No voice change 3. Increased body hair 4. Muscular built 5. Growth acceleration Investigations:
RBS 3.8 mmol/L Serum Electrolytes Na+ :133 mm0l/L, K+ : 4.9 mmol/L Cl- :104 mm0l/L, TCO2 :16.4 mmol/L Basal cortisol 259.6 nmol/L (N) (138-690nmol/l) Basal ACTH 11.2pg/ml, (N) (No to 46pg/ml) 17 OHP 0.17ng/ml (N) (0.1-3.1ng/ml) DHEAS 95.30µg/dl (N) (19-144µg/dl) Serum Testosterone 6.33nmol/l (↑↑) (.38-1.97 nmol/l) Rapid ACTH stimulation test Basal At 60.00 min
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ACTH 46.07pg/ml
Cortisol 306.00 nmol/l 699.00nmol/l
17 OHP 0.27ng/ml 0.30ng/ml
USG of abdomen: Left adrenal gland prominent, Uterus present (2.32x1.38x0.9), normal for age of this child, both ovaries present (rt. ovary- 0.88cm X 0.68cm X 0.76cm) (Lt ovary- 1.42cm X 0.79cm X 1.18cm) normal for age of this child.
Fig: CT scan of KUB Region: Enlarged left Fig: Radiological bone age is 5-6yrs adrenal mass, is about (5.9x 3.2) cm, with calcification.
Bone marrow study: Uninvolved marrow. 24 hrs VMA : 2mg/day, normal (upto 15mg) LH: 0.07IU/L ↓ FSH: 0.9IU/L, normal 17 B estradiol: 10pg/ml, normal Karotyping: Not done
Final Diagnosis: Virilizing Adrenocortical Tumor
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Pediatric Case Diary
CASE-48
Presenting Complaint:
o Not growing well after infancy.
Case Summary:
XY, 15-year old boy, 1st issue of consanguineous parents, got admitted with the complaint of not growing well after infancy. He did not have any constipation, lethargy, chronic cough or respiratory distress, chronic diarrhoea, polyuria, polydypsia. He had no H/O perinatal asphyxia, convulsion or prolonged jaundice at neonatal period. His younger 2 sibs were also much shorter than peers. On examination, he was well-alert, conscious, co-operative, frontal bossing, depressed nasal bridge, high pitch voice- present, mildly pale, anicteric, vitals were within normal limit. Anthropometrically: Weight: 10kg (WAZ: -7.2), Height: 86 cm (HAZ: -7.8), upper segment and lower segment ratio was 1, MPH: 152 cm Target height: 143.5 -160.5 cm, projected height was far below target height, Tanner stage- pre-pubertal. Other system examinations revealed no abnormalities.
Fig: Our case Fig: Affected sib with parents Fig: With his younger brother
Provisional Diagnosis: Short Stature most probably due to growth hormone deficiency.
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Pediatric Case Diary
Growth hormone deficiency due to: 1. Familial isolated growth hormone deficiency 2. Panhypopituitarism Familial isolated growth hormone deficiency From history: ➢ Not growing well since infancy ➢ Consanguineous parents ➢ Sibs affected On examination: ➢ Frontal bossing, ➢ Depressed nasal bridge ➢ high pitch voice present. ➢ Anthropometrically- HAZ: -7.8 ➢ Proportionate short stature
Panhypopituitarism Points in favor Points against From History: No features of other hormone deficiencies ➢ Not growing well like other peers On Examination: ➢ Anthropometry: HAZ: -7.8 ➢ Proportionate short stature ➢ Delayed puberty Differential Diagnosis: Laron Syndrome
From history : ➢ Not growing well since infancy ➢ Consanguineous parents ➢ H/O affected sib On examination : ➢ Frontal bossing, ➢ Depressed nasal bridge ➢ High pitch voice present ➢ Anthropometrically- HAZ: -7.8 ➢ Proportionate short stature
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Investigations:
CBC Hb: 10.5gm/dl, ESR- 20 mm in 1st hr TC of WBC: 10500/cumm PLT- 320000/cumm Urine R/E Pus cell: 0-2/HPF, RBC: Nil, Protein- Nil S. Creatinine 0.67mg/dl S.ALT 20U/L Thyroid Function Test TSH: 3.41 mlU/L, FT4:15.91pmol/L Insulin like growth factor1 3 ng/ml (99-633) Growth hormone stimulation test GH stimulation test Day 1:(with Levo-Dopa) • At ‘0’ min – 0.05ng/ml • At ‘60’ min – 0.06 ng/ml • At ‘90’ min- 0.08ng/ml GH stimulation test Day 2:(with Clonidine) • At ‘0’ min – 0.05 ng/ml • At ‘60’ min – 0.06 ng/ml • At ‘90’ min- 0.07 ng/ml Assessment of other hormones: S. ACTH 38.5pg/ml (upto 46pg/ml) S. Cortisol 227nmol/l (101.2-535.7nmol/L) FSH 2.0 mIU/ml LH 2.3 mIU/ml
X-ray Bone age- 11 yrs
Final Diagnosis: Familial isolated growth hormone deficiency
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Pediatric Case Diary
CASE-49
Presenting Complaints:
o Appearance of pubic and axillary hair for 9 months. o Excessive increased height for the same duration.
Case Summary:
XY, 7-yr old boy, 2nd issue of consanguineous parents, got admitted with the complaints of appearance of pubic and axillary hair for 9 months and excessive increased height for the same duration. Mother also noticed enlargement of penis. He had no H/O headache, vomiting, convulsion, visual disturbance, head trauma, surgery, radiation, features of shock, salt craving and taking any offending drugs, constipation, cold intolerance and abnormal skin pigmentation. On examination, he was normotensive, tall, his height was above mid parental height range. Examination of genitalia showed stretch penile length- 8cm, Rt testicular volume- 12ml, Lt. testicular volume- 10 ml, Pubic hair : stage-3, Axillary hair : stage-3. So, his pubertal assessment was Tanner staging 3 which corresponded to 11-12 years. Other systemic examinations revealed normal findings.
Fig: Pubic hair in our case Fig: Axillary hair in our case
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Provisional Diagnosis: Precocious puberty
Points in favor Early development of secondary sexual characteristics (<9 yrs). ❖ It may be- ➢ Peripheral precocious puberty (PPP) ➢ Central precocious puberty (CPP)
Diagnosis Points in favor Points against Peripheral precocious • H/O consanguinity • No H/O vomiting, puberty • Child presented with dehydration, shock precocious puberty • No F/O CNS pathology • Sequence of pubertal progression- not followed. • More common Central precocious • Precocious puberty • Sequence of pubertal puberty progression- not followed. • No features of CNS pathology. Probable Diagnosis: Peripheral precocious puberty (PPP)
Possible causes of PPP in this case:
Congenital Adrenal Hyperplasia (CAH) Adrenal tumor Hypothyroidism
Investigations: X ray Lt wrist joint (A/P Radiological bone age is 11-12 years (advanced bone view) age) Serum Testosterone 340.86 ng/dl (<10 ng/dl) LH 0.10mIU/ml (N) (0.00-0.1mIU/ml) FSH 0.28 IU/ml (N) (<3IU/ml) Thyroid Function Test FT4 : 1.65 ng/dl (0.80-1.80 ng/dl) TSH : 3.99 µIU/ml (0.70- 5.70 µIU/ml) USG W/A Normal Karyotype XY, 46
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Fig: X-ray wrist showing radiological bone age of 11-12 yrs
Rapid ACTH stimulation test:
0 min After 60 min Normal value 17 -OH-progesterone 13 ng/ml (↑) 18 ng/ml 0.07-1.70 ng/ml
DHEA-S 243.41 µg/dl (↑) 337.89 µgm/dl (5.00-40.00 µgm/dl)
Basal cortisol 197.54 nmol/L 245.39 nmol/L (101-690 nmol/L) Basal ACTH 878 pg/ml, (↑) (8.3 - 57.8 pg/ml)
MRI of Pituitary: Normal
Final Diagnosis: Peripheral precocious puberty due to congenital adrenal hyperplasia simple virilizing form of 21 hydroxylase deficiency
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Pediatric Case Diary
CASE-50
Chief Complaints:
o Fever for 4 months. o Abdominal distension for same duration.
Case Summary:
XY, 6-yr old boy immunized, hailing from Norshingdi, got admitted with fever for 4 months, abdominal distension for the same duration. Fever was irregular, not associated with chills and rigor. He also had gradual distension of abdomen and a swelling on left upper region. The mass was progressively increasing in size. There was also progressive weight loss over the last 4 months. His appetite, bowel bladder habits were normal. On query, there was no vomiting, yellow discoloration of eyes or skin, bleeding from any site. He gave no H/O contact with TB patient or travelling to high risk malaria zone. He was diagnosed as a case of Kala azar 8 months back and treated with Inj. Stibogluconate in adequate dose and duration. There after, he was reasonably well for 3 months. His elder sister also suffered from Kalaazar and was treated at the same time in DMCH. On examination, he was cachectic, severely pale, anicteric, no edema or dehydration. Vital parameters were normal. Liver was palpable 6cm from Rt costal margin along the midclavicular line, firm, nontender, surface smooth, margin regular. Spleen was enlarged 13cm along its long axis, splenic notch present. There was no ascites.
Fig: Our case with distended abdomen
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Provisional Diagnosis: Treatment failure Kala azar
Differential Diagnosis:
– Disseminated TB – Malaria – Chronic Myeloid leukemia Investigation Profile:
CBC Hb: 3.6 g/dl, ESR: 140 mm in 1st hour TC : 3,000/cmm DC: N- 50%, L- 44%, M- 04%, E- 02%, B-0% Platelet: 1,70,000/cmm PBF Normocytic anaemia with leucopenia MT Negative CXR PA view Normal findings USG of whole abdomen Hepatosplenomegaly, No ascites Liver Function Test SGPT: 24 IU/L S. Billirubin: 0.8 g/dl S. Total protein : 85 g/L S. Albumin: 38g/L S. Globulin: 47 g/L Albumin: Globulin - 0.8 : 1 Coagulation Profile PT : 14 sec, INR : 1.27 BT : 3 sec, CT : 4 sec S. Creatinine 1.4 mg/dl ECG Normal Endoscopy of upper GIT Normal findings Splenic Aspiration Leishman stained splenic aspirate revealed presence of plenty of amastigotes of Leishmania donovani (LD bodies ).
Extracellular amastigotes Intracellular amastigotesExtracell in macrophage Intracellular
Fig: Leishman stained splenic aspirate showing LD bodies
Final Diagnosis: Treatment failure Kala azar
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Pediatric Case Diary
CASE-51
Chief Complaint:
o Bending of both legs for last 2 months.
Case Summary: XY, 18-month old boy, immunized, 2nd issue of non consanguineous parents, hailing from Mirpur, Dhaka, was admitted with the complaint of bowing of both legs for 2 months which was progressively increasing. He had H/O inadequate sun exposure and feeding mismanagement. He was delivered at term with normal birth weight. He had no history of delayed dentition or dental infection, repeated RTI or convulsion. There was no history of polyuria, polydipsia, any urinary problem, chronic diarrhoea, malabsorption, jaundice, no history of intake of any offending drugs. On examination, he was playful, afebrile, mildly pale, anicteric, vitals were within normal limits. He had box like head, frontal bossing, widening of wrist, anterior fontanel -open, varus deformity of legs present with intercondylar distance- 7cm, moderately underweight and stunted. He had waddling gait, back and spine- normal. Other systemic examinations revealed no abnormality.
Fig : Box like head Fig : Widening of wrist
Provisional Diagnosis: Rickets (Nutritional)
Points in favor Points against
- Box like head - No H/O delayed development - Frontal bossing - Widening of wrist - Anterior Fontanel–open - Bowing of both legs with intercondylar distance 7cm - H/O inadequate sun exposure - H/O feeding mismanagement
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Differential Diagnosis: Other form of Rickets
Points in favor Points against
- Box like head - Absence any other risk factor and - Frontal bossing clinical feature - Widening of wrist - H/O inadequate sun exposure - Anterior Fontanel–open - H/O feeding mismanagment - Bowing of both legs with intercondylar distance 7cm Investigations:
Fig: X-ray wrist showing widening, cupping and fraying of metaphyseal end of radius - ulna
S. Calcium 8.2 mg/dl S. Inorganic phosphate 4mg/dl S. Parathyroid hormone 443.5 pg/ml S. Alkaline phosphatase 991 U/L Spot Urine calcium 0.1 mg/dl Urine R/M/E pH : 6.5, Phosphate : nil, Sugar : nil Urinary Calcium creatinine ratio 0.07
Final Diagnosis: Nutritional Rickets
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CASE-52
Presenting Complaint:
o Progressive bending of both legs for last 1 ½ years.
Case Summary:
XY, 3 ½ year old boy, immunized, 2nd issue of consanguineous parents, hailing from Kishoregonj, was admitted with the complaint of bowing of both legs for 1.5 years which was progressively increasing. He had h/o hypocalcemic tetany with repeated attack of RTI and pneumonia. He had h/o developmental delay which improved after calcium and calcitriol supplementation. He had no other factors associated to this illness. On examination, he was playful, afebrile, mildly pale, anicteric, vitals were within normal limits, box like head, frontal bossing, widening of wrists, varus deformity of legs present with intercondylar distance 8 cm, anthropometrically, moderately underweight and stunted. He had waddling gait, back and spine was normal. Other systemic examinations revealed no abnormality.
Fig : Box like head Fig : Widening of wrist Fig : Bowing of legs
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Provisional Diagnosis: Rickets most likely Vitamin D dependent
Points in favor - Box like head with hot cross bun appearance - Frontal bossing - Widening of wrist - Bowing of both legs with intercondylar distance 8 cm - H/O Hypocalcemic tetany in early infancy - Consanguinity present - Developmental delay which improved after supplementation.
Differential Diagnosis: Other variety of Rickets
Points in favor Points against
- Box like head - Absence of any other risk factors - Frontal bossing and clinical features of other variety - Widening of wrist of Rickets. - Bowing of both legs with intercondylar distance 8 cm. Investigations:
Fig : X ray of Lower limb-left-widening and Fig: X-ray of Lt upper limb-widening, fraying of metaphyseal end of femur cupping of metaphyseal end of radius-ulna
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S. Calcium 6.9 mg/dl Inorganic phosphate 5.1 mg/dl Parathyroid hormone 456.3 pg/ml Vit D 27 ng/dl Alkaline phosphatase 798U/L S. Electrolytes Na+ : 136mmol/l K+ : 4.1mmol/l Cl- :104 mmol/l TCO2 : 20 mmol/l S Creatinine 0.15 mg/dl Urine R/M/E PH 6.6 Phosphate –nil Sugar -nil Urinary Calcium creatinine ratio 0.03
Final Diagnosis: Vitamin D dependent Rickets most likely type -2
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Pediatric Case Diary
CASE-53
Presenting Complaints:
o Not growing well for 9 years. o Increased water intake and micturition for 8 years. o Widening of both wrists and ankles for 1 year.
Case Summary:
XX, 11-year old girl, not growing well since 2 years of her age, polyuria and polydipsia for last 8 years, widening of both wrists and ankles for last 1 year. She also had valgus deformity of both legs and progressive difficulty in walking for last 1 year. She had no history of delayed motor development, inadequate exposure to sunlight, vomiting, respiratory distress, hematuria, dysuria, dribbling of urine, increased appetite, jaundice, chronic diarrhoea or taking any offending drugs. She had no history of feeding mismanagement and her regular diet was devoid of egg yolk, milk or milk products. None of her family members had history of same type of illness. On examination - she was ill looking, emaciated, not dehydrated and vital signs were within normal limit. Anthropometrically, she was severely underweight, severely stunted and severely wasted. There was widening of both wrists and ankle joints with valgus deformity of both legs. She had waddling gait. Other systemic examinations revealed no abnormality.
Fig: Knocked knee and wide Inter malleolar distance (12 cm)
Provisional Diagnosis: Rickets due to Renal Tubular Acidosis
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Pediatric Case Diary
Rickets
Points in favor Points against • Not growing well • No motor developmental delay • Widening of wrists and ankles • Difficulty in walking • Valgus deformity • Waddling gait present Renal tubular acidosis
Points in favor Points against • Polyuria and polydipsia • Vomiting absent • Not growing well • Dehydration absent • No feeding mismanagement • No history of malabsorption • No history of inadequate exposure to sunlight
Differential Diagnoses:
- Nutritional Rickets - Other form of Rickets
Points in favor for Nutritional Rickets Points against • Most common • Polyuria and polydipsia present • Poor socioeconomic background • No gross feeding mismanagement • No intake of egg yolk, milk or milk • No history of malabsorption products in regular diet • No history of inadequate exposure to sunlight
Investigations:
CBC Hb: 14.8 gm/dl, TC of WBC : 9,000/cumm DC : N- 57%, L-37%, PLT: 4,50,000/cu mm PBF Non specific finding S. Electrolytes Na : 137 mmol/L, K : 2.1mmol/L Cl : 113mmol/L, TCO2: 14.4 mmol /L HC03: 13 mmol/L, Anion Gap : 11 mmol/L
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Vitamin D level 45.2 ng/ml PTH 23.2 pg/ml Alkaline phosphatase 740 U/ L (↑) Serum inorganic phosphate 2.50 mg/dl Serum calcium 9.50 mg/dl Rachitic index ( S. Ca X S.PO4) 23.75 (Diagnostic) S. Creatinine 0.24 mg /dl Urine R/M/E pH : 7.5, Pus cell:1-2, RBC: nil 24 hour urinary volume About 3000 ml U. Total Ca 1.90 mmol /L U. Creatinine 1343 ummol/L U. Calcium/U.Creatinine 0.88 (↑) 24 hour urinary phosphate 320 mg USG of KUB region Bilateral renal parenchymal disease X-ray of KUB region Normal
Fig: Cupping and fraying noted at metaphyseal end
Final Diagnosis: Rickets due to Renal Tubular Acidosis (Distal)
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Pediatric Case Diary
CASE-54
Presenting Complaint:
o Swelling of right leg of both the twin babies for last 1 ½ month.
Case Summary:
XY and XX, 4-month old twin babies of non-consanguineous parents, hailing from Comilla got admitted with the complaints of swelling of right leg for last 1½ months, followed by swelling of left index finger, 3rd and 4th proximal phalanges of XY. 10 days before admission, XY developed spontaneous fracture of right radius and ulna, for which he was given plaster cast. They had H/O 2nd dose of pentavalent vaccine given on right thigh 5 days prior to this illness. They also mentioned about low grade fever at the onset of the disease but there was no H/O trauma or non accidental injury. They were treated with multiple antibiotics for last 1½ month. None of their parents or other family members had such type of illness. O/E: Both the babies were fretful, mildly pale, eyes- normal, afebrile, vitals were within normal limit. They were well thriving. There was a plaster cast in situ in XX’s right forearm. Right legs of both the babies were swollen, tenderness 2/4, no features of arthritis, Hepatomegaly (2cm) present.
Provisional Diagnosis: Osteogenesis Imperfecta
Points in Favor - H/O Spontaneous fracture - Similar illness in the Twin - Swelling of leg
Differential Diagnosis: - Osteomyelitis - Scurvy - Congenital Syphilis
Osteomyelitis
Points in favor Points against • H/O I/M vaccination in right thigh • Spontaneous fracture • H/O fever • Multiple bones are involved • Swelling and tenderness of right leg
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Scurvy Points in favor Points against • H/O low grade fever • Spontaneous fracture • Fretful • No gingival lesion • Swelling and tenderness of the leg • No Scorbutic rosary • No petechiae in skin • No pseudoparalysis
Congenital Syphilis
Points in favor Points against • Skeletal changes • Spontaneous fracture • Multiple bones are involved • No H/O skin rash • Hepatomegaly • No H/O IUGR • No renal involvement • No Pseudoparalysis
Investigations:
CBC Hb : 10.5 g/dl WBC : 26,000/cmm DC : N- 39%,L- 50% Platelet : 4,00,000/cmm PBF Leukocytosis with thrombocytosis CRP 2.8 mg/dl Blood C/S No growth S. Creatinine 0.35 mg/dl S. TPHA Negative S. ALP 800 U/L (↑) S. inorganic phosphate 5.8 mg/dl (↑) S. PTH 10.1 pg/ml (Normal)
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X-Ray Rt. Upper Limb (XY) X-Ray Lower limbs (XY)
X-Ray Lower limbs (XX)
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X-Ray of rt upper limb (XX)
X-ray of rt upper limb (XY) New fractureoccurred in left humerus
Bone Scan report:
1. Rt. lower leg – Soft tissue inflammation 2. Multiple osteoblastic bony lesion involving right tibia, humerus and femur. 3. Bony expansion
Final Diagnosis: Osteogenesis Imperfecta Plan to give Inj. Bisphosphonate
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CASE-55
Presenting Complaints:
o High grade intermittent fever for 3 months. o Pain and swelling of different joints of upper and lower limbs for same duration.
Case Summary:
XX, 11-year old immunized girl, 2nd issue of her non-consanguineous parents, of lower class family, hailing from Bikrampur got admitted with the complaints of high grade intermittent fever for last 3 months associated with chills and rigor subsided by taking antipyretics. She also complained of pain and swelling of different joints of upper and lower limbs for 3 months which involved both ankles, knees, wrists and metacarpophalangeal joints. It was additive, non migratory in nature, associated with morning stiffness. The pain was so severe that she could not perform her daily activities including standing and walking. She also had rash which appeared at the height of temperature, macular, non pruritic and disappeared as the fever subsided. She had no H/O photosensitivity, oral ulcer, sore throat, hematuria, burning sensation of micturition or contact with TB patient. For this illness, she was treated with Tab. Prednisolone. On examination, she was co-operative, moderately pale, febrile, BCG mark present, no lymphadenopathy, RR: 22/min, Pulse: 108 min, BP: 90/60 mm of Hg, BSUA: nil. On anthropometry, weight was 25 kg (at 3rd centile); Height- 133cm (at 5th centile) and BMI was 14.12 (at 3rd centile). On systemic examination, she had features of arthritis on both knee, ankles, wrists and metacarpophalangeal and proximal interphalangeal joints. There was no organomegaly. Other system examinations revealed normal findings.
Fig: Swelling of knee, wrist and metacarpophalangeal joint
Provisional Diagnosis: Juvenile Idiopathic Arthritis (Systemic onset)
Differential Diagnosis: Systemic Lupus Erythematosus 169
Pediatric Case Diary
Juvenile Idiopathic Arthritis (Systemic onset) Points in favor Point against • Characteristic fever. • Age • Features of arthritis present • No organomegaly. • Multiple joints involved. • Duration more than 6wks. • Characteristic rash present.
Systemic Lupus Erythematosus
Points in favor Point against • Age • No Photophobia. • Female. • No oral ulcer. • Multiple joints involvement. • Rash present.
Investigations:
CBC Hb : 6.7 gm/dl ESR : 95 mm in 1st hour TC : 26,000 cumm PLT : 800,000 cumm DC: N- 89%, L - 09% PBF Microcytic Hypochromic anaemia with neutrophilic leukocytosis and thrombocytosis CRP 262.8 mg/L Serum creatinine 0.36 mg/dl S. ALT 8 U/L Urine R/E Normal ANA (IF) Negative. RF Negative. Serum Ferritin 515.83 micgm/L Bone marrow examination Normal marrow. CXR Normal
Final Diagnosis: Systemic Juvenile Idiopathic Arthritis
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CASE-56 Presenting Complaints:
o Pain and swelling of multiple joints for 3 months.
o Fever for 3 months.
Case Summary:
XY, 10-year old boy, 2nd issue of non consanguineous parents hailing from Narsingdi got admitted in BSMMU with the complaints of pain and swelling of multiple joints for last 3 months which involved multiple large and small joints (>5) of both lower limbs, not migratory, additive and asymmetrical in nature, associated with morning stiffness, initially relieved by activity but soon became so severe that made him difficult to move his lower limbs. Joint pain and swelling were associated with fever for same duration which was low grade, intermittent in nature, highest recorded temp. was 101°F and relieved by taking antipyretic and not responding to antibiotic. He had no H/O urinary and GI complaints, rash, visual disturbance, any bleeding manifestation, convulsion or contact with TB patient or h/o such type of illness in his family. For this illness, he visited registered physician for several times, was treated with inj. Flucloxacillin, inj. Ceftriaxone and analgesics, but condition didn’t improve. On examination, he was mildly pale, vitals were within normal limit, anthropometrically- moderately underweight, no edema or lymphadenopathy, BCG mark present, skin survey was normal. He had features of arthritis and enthesitis present, there was no muscle wasting, contracture or deformity, no swelling or tenderness was present in spine, gait couldn’t be assessed. Schober’s test: negative. Other systemic examinations revealed normal findings.
Fig: Swelling of right knee and ankle
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Provisional Diagnosis: Juvenile Idiopathic Arthritis most probably Enthesitis Related Arthritis
Enthesitis Related Arthritis
Points in favor • Arthritis present. • Enthesitis present. • Age- 10 years • Sex - male • Duration of illness > 6 weeks Differential Diagnosis: Polyarticular variety of Juvenile Idiopathic Arthritis:
Points in favor Points against • Pain and swelling of multiple joints> 6 weeks. • Sex - male • H/O > 5 joints involvement in first 6 months. • Enthesitis • Joints involvement were additive, asymmetrical, non migratory in nature with morning stiffness Systemic Juvenile Idiopathic Arthritis
Points in favor Points against • Fever • No rashes. • Pain and swelling of multiple joints for 3 months. • Lymphadenopathy. • Joints involvement were additive, symmetrical, • Hepatosplenomegaly non migratory in nature with morning stiffness. • No features of serositis. Investigations:
CBC - Hb% - 9 gm/dl, ESR- 60 mm in 1st hr - TC of WBC: 9,000/cumm - DC : N- 50%, L- 40% - Platelet - 5,00,000/cu mm. PBF Hypochromic anemia with thrombocytosis HLA B-27 Positive for B-27 alleles. Urine R/E Normal S. Creatinine 0.36 mg/dl S. ALT 11 U/L
Final Diagnosis: Juvenile Idiopathic Arthritis, Enthesitis Related Arthritis.
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CASE-57 Presenting Complaints: o Pain and swelling of multiple joints for last 8 months. o Fever for same duration.
Case Summary: XY, 8-year old boy, immunized, 1st issue of non consanguineous parents, hailing from Shariatpur, got admitted with the complaints of pain and swelling of multiple joints for last 8 months which were affected one after other without resolving of the previous ones. Pain was non migratory in nature. He also had history of morning stiffness. On query, mother mentioned that he had been suffering from fever for same duration which was irregular, high grade in nature, not associated with chills and rigor, subsided by taking Paracetamol. There was no history of sore throat, skin rash, oral ulcer or redness of eyes. There was no visual abnormality, chest pain or shortness of breath or bleeding manifestation. There was no history of travelling to malaria or kala-azar endemic zone or any history of contact with TB patient. His bowel and bladder habit were normal. On general examination, he was ill-looking, moderately pale, anicteric, bony tenderness- absent, pulse-80 beats/min, BP-100/80mm of Hg, Temp-100℉, R/R-28 breaths/min,weight- 18kg, height-1.19m, BMI-12.7kg/m² (below 5th percentile),WHZ: -3.45, HAZ: -1.63, WAZ: - 2.28. Generalized lymphadenopathy was present. Largest one was about 1.5x1.2 cm in size, discrete, non tender, firm, free from overlying skin and underlying structure, no discharging sinus was present. On locomotor system examination, both knees, ankles and wrist joints were swollen. Muscles of thigh and cuff were wasted, deformity present in both knee joints. Skin overlying the knee and ankle was warm, joint tenderness- Grade 2 over 4, Fluctuation test- positive, patellar tap- absent. There was no leg length discrepancy. Bulk of muscle- reduced in right thigh, muscle power- Grade 4/ 5, restricted movement of both knee joints seen. Limping gait- present. Other systemic examinations revealed no abnormality.
Fig: Both knee and ankle joints- swollen. Muscles of thigh and calf- wasted. Deformity present in both knee joints. Scar mark present in left knee joint.
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Provisional Diagnosis:
Juvenile Idiopathic Arthritis (Oligoarthritis extended variety)
▪ Pain and swelling of multiple joints (6 joints) for last 8 months. ▪ Pain was non migratory ▪ Fever ▪ Features of arthritis present on both knee and ankle ▪ Deformity present in both knee joints. ▪ Limping gait-present Differential Diagnosis:
SLE, Rheumatic fever
Investigations:
CBC Hb : 6.5 gm/dl Total count:14,000/cu mm N: 65%, L: 32%, E: 02%, M: 01%, B: 00% Platelet count: 600,000/cmm ESR: 140 mm in 1st hour PBF Microcytic hypochromic anaemia with neutrophilic leucocytosis with thrombocytosis. ASO titre 400 IU/ml. ANA Negative RA test Negative. USG of both knee joints Suggestive of inflammatory osteoarthritis with inflammatory collection in both knee joints. Joint space- reduced. CXR Normal. Synovial fluid cytology Appearance-hazy. Volume-01ml Color-Reddish, Reaction-alkaline. Microscopic examination- RBC- +++ TC of WBC-100/cumm DC: N-30%, L-70% Sediment: +
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Fig: X-ray knee showing soft tissue swelling present and joint space-increased.
Diagnosis: Juvenile idiopathic arthritis (oligoarthritis-extended variety)
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CASE-58
Presenting Complaints:
o Fever for 1 year. o Rash for same duration. o Painful swelling of multiple joints for 3 months. Case Summary:
XX, 13-year old girl, hailing from Rangpur, got admitted with the complaints of irregular fever and rash for 1 year. Fever was associated with persistent, severe diffuse headache not responding to Paracetamol. She also had non-pruritic, erythematous rash over the malar area and other parts of body with photosensitivity. She also developed arthritis for last 3 months involving both wrists and both ankles which was symmetrical, non-migratory in nature, not associated with morning stiffness and it did not hamper her daily activities. Mother gave history of painless ulceration on oral cavity as well as generalized weakness and fatigability. She had no history of convulsion, altered consciousness, abnormal behaviour, visual problem, chest pain, respiratory distress, high colour urine, bleeding manifestation or contact with TB patient. She had been treated with Tab. Chloroquin (Avloquin), Tab. Prednisolone and NSAIDs. On examination, she was ill looking, mildly pale, regarding vital signs: Temp: 101°F, HR-112/min, BP-180/120 (> 99th centile). There was butterfly rash over the malar area sparing nasolabial fold, livedo reticularis over both arms and some non specific rashes all over the body. BCG mark present. BSUA: ++. Anthopometry- normal. On alimentary system examination, oral ulcer over the hard palate. There was hepatomegaly and ascites present as evidenced by shifting dullness. Other system examinations revealed nothing abnormality.
Fig: Rash over the malar area sparing the nasolabial fold and non-specific rash (blackish in colour)
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Provisional Diagnosis: Systemic lupus erythematosus with nephritis
Points in favor
• Prolonged irregular fever • Rash over the malar area • Headache • Photosensitivity • Arthritis • Painless ulcer on hard palate • Ascites, BSUA: ++ • Hypertension
Differential Diagnosis:
Systemic Juvenile Idiopathic Arthritis
Points in favor Points against • Prolonged intermittent fever • Fever- not characteristic • Multiple joint pain and swelling • Malar rash • Rash • Painless oral ulceration • Organomegaly • Ascites
Investigations:
CBC Hb : 10.9g/dl ESR : 20 mm in 1st hr TC : 16,500/cm DC : N- 66%, L- 30% PLT : 2,00,000/cmm PBF Anisopoikilocytosis with mild microcytic hypochromic anaemia with neutrophilic leukocytosis. Urine R/M/E Pus cell: 6-8/HPF R.B.C: 4-5/HPF Cast - nil Blood culture No growth Urine culture No growth SGPT 26 U/L
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UTP 1.3 gm/day C3 0.639 gm/l (N=0.9- 1.8 gm/l) C4 0.0633 gm/l (N=0.1- 0.4 gm/l) S. Creatinine 1.2 mg/dl CXR Normal ANA Negative Anti-ds DNA 152 U/ml (Positive) Lipid profile S. Cholesterol : 350 mg/dl S. HDL : 41 mg/dl TG : 458 mg/dl Anti cardiolipin Ab Negative HBSAg Negative Coagulation profile PT: 11.3 sec, INR-0.95 APTT: 35 sec S. Lipase 251 U/l (23 - 300) Repeat creatinine (HS D4) 2.2 mg/dl Repeat creatinine (HS D10) 1.2 mg/dl S. Electrolytes Na: 141mmol/lt, K: 4.8 mmol/lt Cl: 104 mmol/lt, TCO2: 19 mmol/lt Renal biopsy Class III lupus nephritis.
Final Diagnosis: SLE with nephritis
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CASE-59
Presenting Complaint:
o Pain and swelling of multiple joints for 3 years.
Case Summary:
XX, 13-year old immunized girl, 3rd issue of non consanguineous parents belonging to low socioeconomic condition, hailing from Keraniganj got admitted with the complaint of pain and swelling of multiple joints for 3 years. It involved ˃5 joints in 1st 6 months which was additive in nature associated with morning stiffness and severe enough to hamper her daily activities and she gradually developed deformity of multiple joints. She had no H/O photosensitivity, oral ulceration, rash. O/E, she was mildly pale, micrognathia present, vitals were stable, no lymphadenopathy, BCG mark present. She was severely wasted and severely stunted. Features of arthritis and deformity present in both elbow, wrist, knee, small joints of hands and feet. She had no organomegaly and other systemic examinations revealed normal findings.
Provisional Diagnosis: Polyarticular JIA
Points in favor • Age 13 years • Involvement of ˃5 joints • Morning stiffness present • F/O arthritis present • Deformity present in multiple joints Investigations:
CBC Hb: 9.4 gm/dl ESR: 59 mm in 1st hr TC WBC: 14,300/cmm DC: N- 82% , L-13% , E-03% , M-02% , B-00% Platelet: 3,20,000/cu.mm Urine R/E Pus Cell: 0-2/HPF, RBC: Nil S. Creatinine 0.34 mg/dl S.ALT 12 U/L RF Positive ANA Negative Eye evaluation Normal
Final Diagnosis: RF positive Polyarticular JIA
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CASE-60
Presenting Complaints:
o Painful swelling of multiple joints for 2½ months. o Fever for same duration.
Case Summary:
XX, 7-year old girl, 1st issue of non-consanguineous parents, immunized, hailing from Demra got admitted with the complaints of arthritis of multiple joints, high grade continued fever, and rash for 2 ½ months. Arthritis involving both ankle joints, knee joints, wrist joints and small joints of hands and feet which were additive in nature and hampered her daily activity, not associated with trauma or morning stiffness. She also had multiple erythematous, palpable, nodular rashes about 1×0.5 cm in diameter tender, non-pruritic over extensor surface of both upper limb and lower limbs. There was no H/O abdominal pain, high color urine, loss of sensation of distal limbs, bleeding manifestation, bone pain, photosensitivity, visual disturbance, oral ulcer, jaundice, sore throat. For the above complaints, she was treated with analgesics, anti-histamines, steroid by some local physician but condition didn’t improve. On general examination, she was ill looking, temp: 100.8 F,̊ pulse: 120 beats/min, BP: 100/60 mm of Hg, HAZ: -3.2SD, WAZ: - 3.2SD. On skin survey, there were multiple erythematous rashes, palpable, painful, nodules (1×0.5 cm) did not blanch on pressure over extensor surface of both upper and lower limbs, livedoreticularis present over lower limbs. Arthritis present on both ankles, both knees, small joints of feet, both wrist joints. Other system examinations revealed no abnormality.
Provisional Diagnosis: Poly Arteritis Nodosa
Points in favor Fever Wt. loss Skin involvement- livedoreticularis, painful subcutaneous nodule Myalgia
Differential Diagnosis: Systemic Lupus Erythematosus Points in favor Points against Female baby Painful nodular rash Arthritis Skin: Rash, livedoreticularis Mildly pale
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Leukemia Points in favor Points against Fever Painful nodular rash, Arthritis livedoreticularis Skin: Rash Mildly pale lymphadenopathy
Investigations: CBC Hb% : 10.8 gm/dl ESR :100mm/1st hr TC : 36 x 10⁹/µl DC : N-81%, L-15%, M-3%, E-1% Platelet : 600 x 10⁹/cmm PBF Neutrophilic leukocytosis SGPT 118U/L S. Creatinine 0.6mg/dl Urine R/E Normal findings LDH 302U/L HBsAg Negative UTP 0.45 gm/24hrs ANA Negative Blood C/S No growth Urine C/S No growth S. Ferritin 193.2µg/l Bone marrow study Normal CXR Normal Biopsy findings of subcutaneous nodule Perivascular infiltration of chronic inflammatory cells. Wall of blood vessel shows fibrinoid necrosis. Nuclear debris present.
Final Diagnosis: Poly Arteritis Nodosa
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CASE-61
Presenting Complaints:
o Fever for 14 days. o Redness of both eyes for same duration.
Case Summary:
XY, 3-year boy, 2nd issue of his non-consanguineous parents, hailing from Jessore, immunized as per EPI schedule, developmentally age appropriate was admitted with the complaints of fever for 14 days which was high grade continued in nature, not associated with chills and rigor, only subsided partially after taking Paracetamol, highest recorded temperature was 103℉. He also developed redness of both eyes without any discharge. For these complaints, he was treated with antipyretics and antibiotics without any improvement. He had no history of running nose, sore throat, cough, respiratory distress, abdominal complaints, crying during micturition, bleeding manifestations, convulsion or travelling to malaria endemic zone. On examination, he was febrile (103℉) and fretful, mildly pale. Vitals were within normal limits except tachycardia (140 beats/min). Skin survey revealed maculopapular pruritic rash over the trunk and extremities. Right anterior cervical lymphadenopathy was present. Erythema and edema of the hands and feet were present. On throat examination, erythema of the pharynx and oral cavity present. Tongue was coated. Eye: Bilateral bulbar conjunctival injections without any discharge. Examination of cardiovascular system, alimentary system and other systems revealed normal findings.
Provisional Diagnosis:
Kawasaki disease
Points in favor Points against • High grade (103℉), continued fever not • Coated tongue present responding to antibiotics • Erythema and edema of the hands and feet • Maculopapular pruritic rash over trunk and extremities • Bilateral non- exudative conjunctival injection • Erythema of the oral and pharyngeal mucosa present • Unilateral cervical lymphadenopathy
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Differential Diagnosis:
Scarlet fever
Points in favor Points against • Fever • Not responding to antibiotic • Rash • Pharyngitis • Coated tongue
Investigations:
CBC Hb% : 10.8 gm/dl WBC : 19×1012 /l, DC : N- 74%, L- 20%, M- 4%, E- 2%,B- 0%, Platelet : 6,00,000/mm3 ESR : 45mm in 1st hr CRP 120 mg/l S. Albumin 34 gm/L S. ALT 45 IU/L Urine R/M/E Normal Color Doppler Echo Aneurysmal dilatation of RCA origin, size- 4mm, slightly dilated LCA, size -3.2mm and LAD- 3mm. Circumflex -2.5mm. No evidence of cardiomyopathy. AA valves and tracts are normal.NO pericardial effusion. Comments–? Kawasaki disease, aneurysmal dilatation of RCA origin, dilated LCA and LAD
Final Diagnosis: Kawasaki disease
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Pediatric Case Diary
CASE-62
Presenting Complaints:
o Difficulty in sitting from lying position and standing from sitting position for 6 months. o Rash over whole body for same duration.
Case Summary:
XY, 6½ year old immunized boy hailing from Noaga, was admitted with the complaints of difficulty in sitting from lying position and standing from sitting position for last 6 months. He also developed rash over the face, which was erythematous in nature and increased on exposure to sunlight. Rash gradually involved the upper chest and back and both extremities. There was history of fever and cough 6 months back but no complaints of oral ulcer, respiratory difficulties, chest pain, feeding difficulties, joint pain and swelling or convulsion. He was treated with Ibuprofen and Paracetamol for this illness. On examination, he was mildly pale, vitals were within normal limits, anthropometry showed severely underweight and severely wasted. On skin survey, there was malar rash involving the nasolabial folds, heliotrope rash present, Gottron’s papules present over the extensor surface of proximal and distal interphalangeal joints and metacarpophalangeal joints of both hands and also over both knee joints. Multiple maculopapular rashes over the extensor surfaces of the extremities and buttocks. Shawl’s sign positive. Gower’s sign: positive, muscle power in the lower limbs decreased (Grade: 3/5), Childhood Myositis Assessment Scale (CMAS) score: 34. Other systemic examinations revealed normal findings.
Fig: Macular erythematous rash over Fig: Heliotrope rash present malar region involving the nasolabial folds.
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Fig: Gottron’s papules Fig: Shawl’s sign positive
Fig: Multiple maculopapular rash over the extremities
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Provisional Diagnosis: Juvenile Dermatomyositis (JDM)
Points in favor From history: • Age • H/O fever and cough prior to illness • Proximal muscle weakness • Characteristic rash • H/O photosensitivity From examination: • Malar rash involving the nasolabial fold • Heliotrope rash • Gottron’s papules • Shawl’s sign positive • Gower’s sign positive
Investigations:
CBC Hb: 11.2 gm/dl ESR: 27 mm in 1st hour WBC: 12,000/mm³ N- 44%, L- 49% Platelet: 4,50,000/mm³ CPK 125.3 U/L (normal <171 U/l) Muscle Biopsy Normal ANA(IF) Positive, fine speckled Anti-Scl 70 0.54 U/ml, -ve Anti-RNP 0.25 U/ml, -ve (<0.95 U/ml) C3 1.03 gm/L , normal C4 0.185 gm/L , normal Urine R/M/E Normal S. ALT 24 U/L S. Creatinine 0.35 mg/dl S. LDH 445 U/L S. AST 46 U/L HRCT of chest Increased attenuated areas noted in the medial segment of right middle lobe, suggestive of pulmonary inflammatory lesions (right)
Final Diagnosis: Juvenile Dermatomyositis
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CASE-63
Presenting Complaint:
o Tightening of skin over the whole body for one and half months.
Case Summary:
XY, 6½ year old male child, 1st issue of his non-consanguineous parents hailing from Comilla, got admitted with the complaints of tightening of skin over the whole body for one and half months which involved face, perioral area, upper and lower limbs gradually increased day by day. He had no history of trauma, fever, headache, convulsion, respiratory distress, dysphagia, dyspepsia, bowel and bladder problem, contracture, arthritis and myositis. With these complaints, he visited to a qualified physician but still his condition did not improve. On examination, he was well alert, afebrile, mildly pale, anicteric and vital signs were within normal limit. There was no lymphadenopathy. Bed side urine for albumin- nil. On examination of alimentary system, there was narrow mouth aperture and he was unable to enter four fingers into the oral cavity. Abdominal skin was tight, dry and rough and there was no organomegaly. Locomotor system and other systemic examinations revealed no abnormality.
Fig: Narrow mouth aperture
Provisional Diagnosis: Juvenile Systemic Sclerosis
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Juvenile Systemic Sclerosis
Points in favor: - Skin: thickened, hardened, dry and rough which was diffuse, symmetrical. - Small mouth aperture and unable to introduce four fingers into the oral cavity.
Investigations:
CBC Hb : 11.9 g/dl ESR: 14 mm in 1st hour TC : 9,500/cmm DC : N- 47%, L- 36%, M- 03%, E- 14% Platelet : 3,10,000/cmm Urine R/M/E Pus cell- 1-3/HPF, Protein- Nil Anti-Scl 70 Negative ANA Negative Chest X-ray Normal ECG Sinus tachycardia S. ALT 22 U/L S. Creatinine 0.45 mg/dl Eye evaluation Normal
Final Diagnosis: Juvenile Systemic Sclerosis
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Pediatric Case Diary
CASE-64
Presenting Complaints:
o Hardening of skin of left side of the body for 1 year.
o Difficulty in walking for same duration.
Case Summary:
XX, 5-year old girl got admitted with the complaints of hardening of skin of left side of the body from lower abdomen upto left foot for 1 year and difficulty in walking, sitting, standing and toileting. She had no h/o chest pain, breathing difficulty, palpitation, headache, convulsion, visual problem. Skin survey revealed hardening and both hypopigmentation and hyperpigmentation of skin along with dry, scaly appearance. Anthropometrically, she was well thriving. Locomotor system examination showed flexion deformity of left knee joint with restricted movement and gait was antalgic. Other systemic examinations revealed no abnormality.
Fig: Hypopigmentation and hyperpigmentation of skin along with dry, scaly appearance with loss hair follicles on left lower limb and left side of abdomen.
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Fig: Flexion deformity of affected limb
Provisional Diagnosis: Localized Scleroderma
Points in favor ▪ Hardening and fibrosis of skin. ▪ Flexion deformity and movement restriction of left knee joint and ankle joint.
Investigations:
CBC Hb : 13.2 g/dl, ESR: 48 mm in 1st hour TC : 10,000/cmm DC : N- 58%, L- 37%, M- 02%, E- 03% Platelet : 2,70,000/cmm Urine R/M/E Normal S. Creatinine 0.5 mg/dl S. ALT 21 U/L 24 hours UTP 0.06 gm/day ANA Negative Anti-Scl 70 Negative Chest X-ray Normal Echocardiography Normal HRCT of chest Normal Skin biopsy Suggestive of Scleroderma
Final Diagnosis: Localized Scleroderma
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CASE-65
Presenting Complaints:
o Not growing well like other peers for 12 months. o Gradual abdominal distension for same duration.
Case Summary:
XY, 2-year old boy, 3rd issue of consanguineous parents, immunized, presented with the complaints of not growing well like other peers for 12 months, despite good appetite and adequate calorie intake. Mother also mentioned about gradual abdominal distension which was not associated with abdominal pain, vomiting. There was no history of convulsion, delayed passage of meconium, prolonged neonatal jaundice and constipation. He had H/O repeated RTI and motor delay present. Clinically, he had characteristic facies evidenced by frontal bossing, prominent supraorbital ridge, depressed nasal bridge, short and broad nose, small chin. Corneal clouding present. Kyphosis present with short and broad hands. He was severely stunted with true short stature. Abdomen was distended with umbilical hernia and hepatosplenomegaly. Developmental delay present. Other system examinations revealed nothing abnormality.
Fig: Our case
Provisional Diagnosis: Mucopolysaccharidosis (Hurler disease)
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Pediatric Case Diary
Points in favor of Mucopolysaccharidosis (Hurler disease) ➢ Consanguinity ➢ Not growing well like other peers ➢ Developmental delay ➢ Characteristic facies ➢ Corneal clouding ➢ Kyphosis present ➢ Short stature ➢ Umbilical hernia ➢ Hepato-splenomegaly
Differential Diagnosis: Congenital hypothyroidism
Points in favor Points against ➢ Not growing well ➢ No H/O delayed passage of ➢ Abdominal distension meconium, persistent jaundice, constipation. ➢ Developmental delay ➢ No periorbital edema ➢ Short stature ➢ Fontanels closed ➢ Umbilical hernia ➢ Hepato-splenomegaly
Investigations :
X-ray chest X-ray Spine
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X-ray Skull X-ray Hand
X-ray Abdomen and Pelvis
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Investigations:
Chest x-ray Widening of anterior ribs. Rest normal
X-ray spine lateral view at dorso-lumbar Antero-inferior beaking (hook-shaped) of region vertebral bodies. Kyphosis at the dorso-lumbar region. Xray Skull lateral view Frontal bossing. J-shaped sella. Thickened and sclerotic base of skull. X-ray of Hand Tapering of the proximal ends of metacarpals
X-ray pelvis shows Flaring of both ilia. Ophthalmological assessment Both corneas were hazy, Optic disc normal Thyroid Function test S.TSH: 3.24 mIU/L S.FT4 : 13.38 pmol/L
Final Diagnosis: Mucopolysaccharidosis (Hurler disease)
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Pediatric Case Diary
CASE-66
Presenting Complaints:
o Progressive tightening of skin since birth. o Multiple pruritic, waxy hypo and hyper pigmented skin lesion in different areas of the body for last 2 years. o Difficulty in walking for last 4 months.
Case Summary:
XX, 5-year old immunized girl, only issue of consanguineous parents, presented with the complaints of progressive tightening of skin since birth, multiple pruritic, waxy hypo and hyper pigmented skin lesion in different areas of the body for last 2 years and she had difficulty in walking for last 4 months. She was not growing well like other peers despite good appetite and adequate calorie intake. Skin tightening was increasing gradually and thereby hampering her daily activity along with walking. There was no history of dyspnea, convulsion, prolonged neonatal jaundice and constipation. Clinically, she had characteristic facies evidenced by prominent supraorbital ridge, depressed nasal bridge, short and broad nose, thick lip and small chin. She had microstomia and sclerodactyly. Skin survey revealed smooth, shiny, tight, thick, edematous skin with hypo pigmented and hyper pigmented areas present in multiple sites. She was moderately stunted and wasted. Vitals were within normal limit. Hepatomegaly present. On examination of locomotor system, there was flexion deformity, restriction of movement in various joints and waddling gait were present. Other systemic examinations revealed nothing abnormality.
Fig: Our case
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Fig: Deformity of multiple joints
Provisional Diagnosis:
Mucopolysaccharidosis (Morquio Disease) with Systemic Sclerosis
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Points in favor for MPS Points in favor for Systemic Sclerosis • Consanguinity present • Tightening of skin • Not growing well like other peers • Sclerodactyly • Developmental delay • Microstomia • Characteristic facies • Hypo and hyper pigmented waxy skin • Short stature lesion • Hepatomegaly • Flexion contracture present
Differential Diagnosis: Congenital Hypothyroidism
Points in favor Points against • Not growing well • No H/O persistent jaundice, • Coarse facies • Constipation. • Developmental delay • Skin tightening • Short stature • No periorbital edema • Hepatomegaly
Investigations:
CBC Hb: 10.6gm/dl ESR: 13 mm in 1st hour WBC: 7000/cmm RBC: 5.1mil/cmm DC : N- 30%, L- 64%, M- 04%, E- 02% Ophthalmological Examination Normal study Thyroid Function Test S. TSH : 3.24μIU/mL S. FT4 : 1.19 ng/dL Skin biopsy and histopathology Epidermis showed hyperkeratosis, acanthosis and preserved granular layer. The dermis showed increased deposition of collagen bundles. The collagen had entrapped the skin adnexal structures. Mild perivascular inflammatory infiltrates were present within the upper dermis. Possibility of scleroma.
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CXR : Widening of anterior end of ribs
Fig: Xray skull Fig: Xray Spine
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Xray hand: Pointing of proximal X-ray Pelvis: Flared iliac wings with end of 2nd to 5th metacarpals. Short increased acetabular angle. and wide metacarpals and phalanges.
Final Diagnosis: Systemic Sclerosis with Mucopolysaccharidosis (Morquio Disease).
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CASE-67
Presenting Complaints: o Recurrent episodes of fever, cough and breathing difficulty for 1 ½ years. o Recurrent episodes of oral thrush and oral ulcer for 3 years.
Case Summary:
XX, 3 yr 3months old boy, hailing from Kashipur, Barishal, 1st issue of non-consanguineous parents got admitted to BSMMU with the complaints of recurrent episodes of fever for last 1½ years. Each episode of fever persisted for 10-15 days, high grade, continued in nature, highest recorded temperature was 103˚F, not associated with chills and rigor and usually subsided after taking antipyretics and antibiotics. Fever was associated with dry cough and breathing difficulty, not associated with wheeze, no diurnal variation, and did not respond to Salbutamol. The child also had H/O recurrent oral thrush and ulcer for 3 years. He had no H/O close contact with TB patient, chronic/recurrent diarrhoea or steatorrhoea or delayed passage of meconium. For the above complaints, he had visited several registered physicians at home and abroad but remained under diagnosed. He had H/O admission to hospitals for 3 times and was treated with injectable antibiotics. But his condition did not improve significantly. At admission, Sadat was conscious, fretful, moderately anemic, tachypneic, BCG mark was absent, multiple blisters were present on lips and other parameters of general examination were normal. Anthropometrically, he was moderately stunted and severely wasted. Examination of the respiratory system revealed respiratory rate was 42 breaths/min, chest movement was normal, trachea – central, mediastinum was not shifted, percussion note was dull on the right lung field, from 2nd to 4th ICS in the mid clavicularline, breath sound was vesicular, crackles were present on the Rt. lung from 2nd to 4th ICS in the mid clavicular line. Examination of other systems showed normal findings.
Fig: Blisters on lip
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Provisional Diagnosis: Primary Immunodeficiency Disorder with Community Acquired Pneumonia with Herpes Labialis with Failure To Thrive
Primary immunodeficiency disorder Points in favor: ✓ Recurrent oral thrush and oral ulcer ✓ Recurrent pneumonia ✓ Failure to gain weight ✓ Use of antibiotics for more than 2 months with little response ✓ Need for intravenous antibiotics to clear infections Pneumonia Points in favor: ✓ High grade continued fever ✓ Cough and respiratory difficulty ✓ Tachypnea ✓ Examination findings suggestive of consolidation on upper part of right lung
Differential Diagnosis: Cystic fibrosis
Points in favor Points against ➢ Repeated respiratory tract ➢ No history of delayed passage of infection meconium ➢ Failure to thrive ➢ No history of chronic diarrhoea or steatorrhoea
Plan of Investigations Routine Investigations: CBC with ESR CRP CXR Urine R/E and C/S Stool R/E Blood C/S
To find out the etiology: For T – Cell Defects: Absolute lymphocyte count T – cell subset enumeration FISH for Di George Syndrome Serum PTH Serum Calcium Skin Scrapping Test for Fungus 201
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For B - Cell Defects: • Serum Immunoglobulin Levels • B – cell subset enumeration For Phagocyte Deficiency: • Absolute Neutrophil Count • NBT Stain for Chronic Granulomatous Disease For Complement Deficiencies: CH50 Assay C3 and C4 Assay For Anemia: PBF Serum Ferritin Hb Electrophoresis Others: Vaccine Response Screen ELISA for HIV PCR for HSV Anti ChlamydiaIgG for Atypical Pneumonia Widal Test To exclude Cystic Fibrosis: Sweat Chloride Test CXR Serum Electrolytes Stool R/E
CBC Hb% : 7.2 g/dl Total Count : 5020/cumm Neutrophil : 45 %(2259) Lymphocyte : 45.2 %(2269) Platelet : 3,19,000/cumm ESR : 34 mm in 1st hour Total RBC : 4.21 million/cmm HCT : 25.8% MCV : 60 fL MCH : 19.4 pg MCHC : 29 g/dl RDW : 19.8% PBF RBC : Microcytic hypochromic anemia WBC : mature, no atypical cells present. Platelet : Normal in number and morphology SGPT 29 U/L. CRP 63.5 mg/L 202
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Widal test Negative S. Electrolytes Sodium : 136 mmol/L Potassium : 3.8 mmol/L Chloride : 104 mmol/L TCO2 : 21.3 mmol/L Urine R/E Pus cell : 20 – 25/HPF RBC : Nil Cast : Nil Urine C/S No growth Blood C/S No growth Stool R/E Normal S. Ferritin 107 ng/ml. Hb electrophoresis Normal
Chest X-ray showing opacity on right upper zone
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Primary Immunodeficiency Panel:
Markers Result Result Result (cells/uL) Ref. value (cells/Ul) (cells/uL)
Lymphocytes 4416 2968 2340 - 5028
Tcell markers: CD3+ 2826 2363 2490 1578 - 3707
CD8+ 1404 1279 1392 472 - 1107
CD4+ 1044 279 801 870 - 2144
CD4+ /CD8+ 0.74 0.58 1.26 – 2.90
B cell markers: CD19+ 1472 1038 321 434 - 1247
NK cell marker: CD56+ 179 213 60 155 - 565
Skin scrapping test for fungus : No fungal element seen Anti Chlamydia IgG : Negative FISH for Digeorge syndrome : Negative Serum Calcium : 9.52 mg% PTH : 15.6 pg/ml Direct exam. for Candida (oral) : Positive Immunoglobulins : - IgG : Increased - IgA : Normal - IgM : Increased - IgE : Normal
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Qualitative PCR for HSV: Negative NBT Stain for Chronic Granulomatous Disease: Normal neutrophil function Vaccine response screen : ▪ Anti HBs – Negative ▪ Measles IgG – Negative ▪ VZV IgG – Negative ▪ Mumps IgG – Negative ▪ Rubella IgG – Positive HIV ELISA : Negative
Final Diagnosis: Primary Immunodeficiency Disorder with Community Acquired Pneumonia with Herpes Labialis with UTI with Failure To Thrive.
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CASE-68
Presenting Complaints:
o Fever for 3 years. o Repeated cough and cold for last 3 years.
Case Summary:
XY, 5 year 8 months old boy, only issue of non consanguineous parents, immunized, of low socioeconomic background hailing from Natore was admitted with the complaints of irregular fever for 3 years, not associated with chills and rigor, subsided after taking antipyretics. He also developed repeated cough and cold for the last 3 years (2-3 episodes per month). It was associated with repeated discharge from both ears, which was purulent, foul smelling but not associated with earache. Each time he needed either oral or injectable antibiotic to clear those infection. On further query, mother also gave history of repeated loose motion, repeated skin and oral infection, which was vesicular and sometimes pustular in nature. With the above complaints, he had several hospital admissions and treated with injectable and oral antibiotics and other symptomatic treatment for various duration. He also received anti TB drugs for 6 months in adequate doses and duration.
This time, he was admitted with high grade fever, pain and swelling of right knee joint for 15 days, which was not associated with morning stiffness, but hampered his daily activities. On examination, he was ill looking, febrile, mildly pale, skin survey revealed multiple hyper pigmented scar mark present on both upper and lower limbs. Tonsils were hypoplastic. Both ears were congested, discharging pus from both ears. Vitals were within normal limit. Anthropometrically, he was severely stunted and moderately underweight. On systemic examination, he had features of arthritis of right knee joint, hepatosplenomegaly present. Other system examinations revealed normal findings.
Provisional Diagnosis:
Primary Immune deficiency disorder (most probably B cell defect) with septic arthritis of right knee joint.
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Primary Immune deficiency disorder (most probably B cell defect) with septic arthritis of right knee joint.
Points in favor History: • History of recurrent skin infections. • Recurrent respiratory tract infections with need of oral or injectable antibiotics every time to clear them. • Recurrent ear infection.
On examination: • Sick looking; febrile, mildly pale; multiple hyper pigmented scar mark and healed skin lesion present on both upper and lower limbs. • Tonsils were hypoplastic. • Both ears were congested, discharging pus from both ears. • Severely stunted and moderately underweights • Features of arthritis of right knee joints • Hepatosplenomegaly present.
Differential Diagnosis:
Combined Primary Immune deficiency disorder (both B and T cell defect)
Points in favor Points against • FTT • Late onset • Protracted diarrhoea • History of recurrent skin infections. • Recurrent respiratory tract infections with need of oral or injectable antibiotics every time to clear them • Recurrent ear infection • Sick looking; febrile, mildly pale • Multiple hyper pigmented scar mark and healed skin lesion present on both upper and lower limbs. • Hepatosplenomegaly present.
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Investigations:
CBC Hb: 9.6g/dl ESR : 41 mm in 1st hour TC WBC : 40.0×109/L Platelet : 600×109/L DC : N- 30%, L- 63%, M- 3%, E- 4%, B- 0% PCV (HCT) : 31% MCV : 61fl MCH : 20.2 pg MCHC : 31.1 pg PBF Microcytic hypochromic anaemia with leukocytosis with reactive thrombocytosis. Chest X-ray Normal ALT 28 U/L CRP 24mg/L ANA Negative Urine R/E Normal Serum creatinine 0.4mg/dl Blood culture No growth X-ray of right knee joint Swelling of soft tissue
Immunoglobulin profile:
Test name Result
IgG 1.21 g/L(7-16 g/l)
IgM 0.160 g/L(0.4-2.3g/l)
IgA <0.264 g/L(0.7- 4g/l)
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Primary Immunodeficiency Panel: Lymphocyte Subset (TBNK) Analysis-Flow Cytometry.
Markers Results (%) Ref. Value (3-12m)
T Cell Markers :
CD3+ 75.20% 56-75
CD3+ CD8+ 44.02 16-30
CD3+ CD4+ 28.78 28-47
CD4+/CD8+ ratio 0.65 1.27-2.7
B cell Markers :
CD19+ 21.37% 6.1-25.2
NK cell markers :
CD16+ CD56+ 3.94 4-17
Other Markers :
CD45+ 69.62% 20-50
Final Diagnosis: Primary Immune Deficiency disorder (Combined variable immunodeficiency) with septic arthritis of right knee joint.
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CASE-69
Presenting Complaints:
o Prolonged bleeding after cut or injury with easy bruising even after minor trauma since 9 months of age. o Bodyache and easy fatigability for same duration
Case Summary:
XX, 6 ½ year old girl, 1st issue of consanguineous parents hailing from Basabo, Dhaka got admitted with the complaints of prolonged bleeding after cut or injury with easy bruising even after minor trauma since 9 months of age. Bluish area of skin subsequently turned to blackish area. Mother also complained about bodyache and easy fatigability evidenced by H/O frequent fall after walking a short distance. On query, mother told about frequent attack of passage of loose watery stool after taking some foods like egg, milk, horlicks, frequency was 6-7 times/day, persisted for 2-3 days and condition improved after withdrawal of above foods. There was no H/O of joint pain or swelling, blood transfusion, convulsion, unconsciousness. Mother was under regular ANC, took 2 doses of inj TT. There was H/O gestational HTN and oligohydramnios. She was delivered by LUCS at 6 months of gestation, at a private hospital in Saudi Arabia due to severe oligohydramnios with birth weight of only 500 gm. After that she was hospitalized for pre-term and incredible LBW, stayed for 2 months. On development assessment, she had H/O motor delay- neck control achieved at 8 months, sitting at 12 months, walking at 18 months. Her younger sib is healthy, no H/O such type of illness in other members.
On general examination, she was well alert, active and playful. Vital signs: T- 98°F, P- 104/min, BP- 80/50 mm of Hg, R/R- 24/min. Anthropometry: weight- 15kg, WAZ = -2.53, Height- 101 cm, HAZ = -4.57, WHZ = on 25th centile , OFC- 48cm, US : LS = 1.06 : 1. A cystic swelling was present over right posterior parieto-occipital region, 5×5 cm on the scalp. There was frontal bossing, scar mark over forehead, broad and depressed nasal bridge, hypertelorism, low set ears, large pinna, both lips were bulbous and swollen up, high arch palate, webbing of neck. Both hands and fingers were short, broad and stubby. Skin survey revealed hyper elasticity, BCG mark present, blackish spot present over right axilla, right leg and neck. Eyes: mildly blue sclera. Nasal mucosa red and congested. On systemic examination, Locomotor system: Hypermobility of joint evidenced by – Passive dorsiflexion of 5th MCP joint to 90°, Apposition of thumb to flexor aspect of forearm, Forward flexion of trunk to place palm of flat hand on the floor with knees extended. Alimentary System: Gum was swollen, loss of teeth due to periodontitis. Respiratory System: Chest wall slightly bulged, Apex beat in Lt 4th ICS, 6cm from midline. Other systemic examination revealed normal findings.
Provisional Diagnosis: Ehlers Danlos Syndrome (Probably Classical type)
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Differential Diagnosis: Cutis Lexa
Fig: Skin showing hyperelasticity; gums swollen with loss of teeth due to periodontitis; short, broad and stubby hands and fingers; hypermobility of joints.
Investigations:
CBC - Hb : 12.1 g/dl - TC WBC : 10210/cu mm - DC : N - 62%, L - 31%, M- 2.2%, E- 3.6% - PLT : 601000/cu mm Urine R/M/E Normal Clot Retraction Test 52% (28–62%) Coagulation Profile BT and CT : Normal . PT and APTT : Normal FT4 and TSH Normal Colour Doppler Echo Normal study
Final Diagnosis: Ehlers Danlos Syndrome (Probably Classical type)
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CASE-70
Presenting Complaints: o Excessive weight gain since 1 year of age. o No micturition control yet.
Case Summary: A 4-year old girl, 3rd issue of consanguineous parents got admitted on with the complaints of excessive weight gain since 1 year of age and no micturition control yet. On query, mother also gave history of polyphagia, polyuria, polydipsia and poor vision. There was no history of constipation, palpitation, hearing impairment, breathing difficulty, dental problem and limb weakness. She was delivered by caesarean section at term due to maternal gestational diabetes mellitus, birth weight was 5 kg. Postnatal history was not significant except for the anomaly of polydactyly in her three limbs. She had no history of developmental delay. On examination, she had rounded face with double chin, enlarged breast and pendulous abdomen (Fig:1). Her BP was 120/90 mm of Hg (Both systolic and diastolic pressure- above 99th centile). Her weight was 32 kg (above 97th centile), height was 106 cm (in between 75th and 90th centile) and body mass index was 28.5kg/m2 (above 97th centile). Bed side urine for albumin and sugar was negative. Musculoskeletal system examination revealed postaxial polydactyly in three limbs and short, broad, stubby fingers and toes (Fig:2). She had high arch palate. On eye examination, visual acuity was 6/60 in both eyes. Anterior segment was normal, fundus showed choroidal retinal mild pigmentary changes in both eyes. Psychological evaluation by IBAS showed total score was 25% of 4 years Assessment. Cardiovascular system examination showed no abnormality.
Fig-1: Rounded face with double chin, Fig-2: Poly-dactyly of both upper limbs enlarged breast and pendulous abdomen. and right lower limb.
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Provisional Diagnosis: Syndromic baby most likely Bardet-Biedl syndrome. Investigations: CBC Hb% : 10.5gm/dl, ESR : 25 mm/1st hr PLT : 2,80,000 /cumm TC : 9,500 /cumm, DC : N- 60%, L- 35% S. ALT 42U/L. S. Creatinine Normal USG of whole Mild hepatomegaly with fatty change and both kidneys normal. abdomen ECG Normal Echocardiography Normal Hearing assessment Normal OGTT Fasting blood sugar 5 mmol/L, 2 hours after glucose intake 11.3 mmol/L S. Triglyceride 215mg/dl Serum cortisol level Normal Thyroid function Normal test Diagnostic features of Bardet-Biedl Syndrome:
Primary feature Our Secondary feature Our case case Rod-cone dystrophy (93%) + Speech disorder/delay (54-81%) - Polydactyly (63-81%) + Strabismus/cataracts/astigmatism - Obesity (72-92%) + Brachydactyly/syndactyly (6-100%/8-95%) + Learning disabilities (61%) - Developmental delay (50-91%) - Genital anomalies (59-98%) - Ataxia/poor coordination/imbalance (40- - 86%) Renal anomalies (53%) - Spinal problem - Mild spasticity (especially lower limbs) - Diabetes mellitus (6-48%) + Dental crowding/ hypodontia/ + Small roorts/high arched plate (51%) Congenital heart disease (7%) - Hepatic fibrosis - Anosmia/hyposmia (60%) - Note: Four primary features or three primary features and two secondary features are required for a clinical diagnosis of Bardet-Biedl syndrome.
Final Diagnosis: Bardet Biedl syndrome
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CASE-71
Presenting Complaints:
o Bluish discoloration of lips, fingers and toes since 2 years of age. o Not growing well for same duration.
Case Summary: XX, a 6-year old girl, only issue of non consanguineous parents, admitted with poor growth and cyanosis since 2 years of age. She had H/O cyanotic spell for which she used to have squatting position. She had no H/O recurrent chest infection, fever, headache, convulsion or cyanosis at birth. Clinically, the child was well alert, co-operative, cyanosed, had digital clubbing and conjunctival congestion, not pale or dehydrated. She was severely malnourished, stunted and mildly wasted.1st and 2nd heart sounds were audible in all 4 areas with an ejection systolic murmur over left 2nd and 3rd ICS along sternal edge, grade 3/5 without radiation. Other systems examination revealed normal findings.
Fig: Cyanosis Fig: Conjunctival congestion
Fig: Clubbing
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ProvisionalDiagnosis: Congenital Cyanotic Heart Disease (probably Tetralogy of Fallot) with Failure to thrive
Points in favor for TOF History : • History of cyanosis since 2 years of age. • History of hyper cyanotic spell. • History of not growing well. • No history of recurrent RTI. Examination : • Clubbing present. • Cyanosis present. • Conjunctival congestion present. • Severely stunted and mildly wasted. • An ejection systolic murmur at upper left sternal border, grade 3/5 without any radiation.
Differential Diagnosis: Transposition of great vessels with shunt with FTT
Investigations:
CBC Hb : 15.4 gm/dl, PCV: 49% TC of WBC: 11,700/cumm DC: N-60%, L-27%, M-01%, E-02% Platelet: 2,46,000/cumm PBF Microcytic hypochromic anaemia Chest X- ray Boot shaped heart, oligaemic lung field ECG RVH, RAH, Right axis deviation Echocardiography ❖ Severe valvular PS ❖ A large malaligned PM VSD (size 11mm) with bi-directional shunt ❖ 50-60% overriding of the aorta ❖ Dilated RA and RV ❖ Hypoplastic MPA Impression: Cyanotic congenital heart disease (Tetralogy of Fallot)
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Fig: X-ray Chest and ECG
Final Diagnosis: Tetralogy of Fallot (TOF) with secondary malnutrition
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CASE-72
Presenting Complaint:
o Respiratory distress for 7 days.
Case summary:
XX, 7-month old, partially immunized female infant, 4th issue of her non consanguineous parents from Mohammadpur, Dhaka got admitted with the complaint of respiratory distress for 7days. According to the statement of the mother, her child was reasonably well 7 days back, then she developed respiratory distress which was not associated with fever or cyanosis. On query, mother gave H/O excessive sweating and tiredness of the baby during feeding since 2 months of age. She also noticed that the baby didn’t grow well in comparison to other child. The baby was delivered by LUCS at term without any complication. Breast feeding was given since birth. On examination, the baby was dyspneic, restless, anicteric, acyanosed, R/R 70/min, H/R 180/min. Anthropometrically she was moderately wasted and stunted. On precordium examination, it was slightly bulged, apex beat- in left fifth intercostal space lateral to the mid-clavicular line,1st and 2nd heart sounds were inconspicuous due to a pansystolic murmur at lower left sternal border, grade 3/6, with no radiation. Respiratory system examination showed chest indrawing, vesicular breath sound with bilateral basal crepitations. On alimentary system examination, liver was palpable 3cm from the right costal margin along mid-clavicular line. Other system examinations revealed normal findings.
Provisional Diagnosis: Congenital acyanotic heart disease probably ventricular septal defect with heart failure.
Investigations:
CBC Hb : 11 gm/dl, PCV: 34% TC of WBC: 6900/cumm DC: N-34%, L-62%, Platelet: 2,40,000/cumm PBF Normal CXR Cardiomegaly ABG Hypoxemia ECG Biventricular hypertrophy Echocardiography Large peri-membranous VSD with L-R shunt with mild PAH
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Fig: CXR- Cardiomegaly
Final Diagnosis: Ventricular septal defect with Heart failure
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CASE-73
Presenting Complaints:
o Cough and cold for 10 days. o Respiratory distress for 5 days.
Case Summary:
XY, 13-year old boy, 2nd issue of nonconsanguineous parents got admitted with the complaints of cough and running nose for 10 days. Cough was dry and non productive in nature, gradually increasing which was severe at night. Mother also complained that her child had respiratory distress for last 5 days which was more at night. On query, mother gave H/O same type of illness since 3 year of his age. He had nocturnal attack 3- 4times/month for last 3 months. His mother and grandfather had H/O same type of illness. He had no history of fever, contact with TB patient, any H/O dermatitis or conjunctivitis. On examination, he was ill looking, dyspneic but could complete a sentence in one breath, conscious, signs of respiratory distress present, R/R- 52br/min, H/R- 100b/min, BP-95/60 mm of Hg. On auscultation, vesicular breath sound with prolong expiration, rhonchi present. Other systemic examination had no abnormality.
Fig: Estimation of Peak expiratory flow rate and nebulization
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Provisional Diagnosis: Acute mild exacerbation of Asthma (mild persistent variety)
Points in favor: • Family H/O same type of illness. • Cough and cold. • Respiratory distress. On examination- • Sign of respiratory distress present. • Vesicular breath sound with prolong expiration present. • Rhonchi present. For mild exacerbation: dyspneic but talked in sentence. For mild persistent variety: H/O nocturnal attack > 2 attacks/month (3-4 times/month).
Investigations:
CBC Hb% : 13.4 gm/dl ESR : 10 mm in 1st hr TC of WBC: 12,500/cumm N- 58%, L- 24% M- 05%, E- 13 % PEFR (Peak expiratory flow rate) Before nebulization = 72% of predicted value. After nebulization =88% of predicted value.
Final Diagnosis: Acute mild exacerbation of Asthma (mild persistent variety)
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CASE-74
Presenting Complaints:
o Cough since 1 year of age. o Fever for 2 months. o Respiratory distress for 10 days.
Case Summary:
XY, 4-year old immunized boy, 3rd issue of non consanguineous parents presented with productive cough since 1 year of age where sputum was purulent, copious in amount and foul smelling and low grade irregular fever for 2 months which became high grade for last 3 days and respiratory distress for 10 days. He had H/O weight loss too. He had H/O recurrent RTI since 1 year of age for which he was treated with several oral and injectable antibiotics and also with anti TB drugs for 6 months. He had no H/O anorexia, vomiting, chronic diarrhoea, delayed passage of meconium, recurrent skin or ear infection, any atopy or allergy, convulsion, dysuria, taking any offending drugs or contact with TB patient. He had H/O sib death at 4 months of age due to respiratory problem. On examination, he was dyspneic, emaciated, febrile, cyanosed, features of respiratory distress present in the form of tachypnea, nasal flaring, intercostal, subcostal and suprasternal recession, clubbing present, BCG mark was present. SPO2 was 76% in RA. He was severely underweight and wasted. Respiratory system examination revealed widespread crackles and ronchi on both lung fields.
Fig: Dyspneic baby Fig: Early clubbing
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Fig: Oblitererated Schamroth’s window Fig: Purulent sputum
Provisional Diagnosis: Acute exacerbation of Bronchiectasis probably due to Cystic fibrosis
Points in favor Acute exacerbation of Points against Bronchiectasis • Fever No h/o haemoptysis • Productive cough • Breathlessness • Failure to thrive • Clubbing • Chest – coarse crackles Points in favor for Cystic fibrosis Points against ➢ H/O recurrent RTI since very early age ➢ Non consanguineous parents ➢ H/O sib death ➢ No H/O steatorrhoea ➢ FTT ➢ No features of malabsorption ➢ Good appetite Differential Diagnosis: Bronchiectasis due to Pulmonary Tuberculosis
Bronchiectasis due to Pulmonary Tuberculosis
Points in favor Points against • Persistent non-remitting cough for > • No H/O TB contact 2weeks • BCG mark present • Persistent fever >2weeks • Good appetite • H/O weight loss.
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Investigations:
CBC Hb%: 11.6 g/dl, ESR : 82mm in 1st hour WBC count: 20,000/cmm, N-76%, L- 20%, E- 00 % Platelet count: 6,50,000/cmm Urine R/M/E Normal S. Creatinine 0.36mg/dl S. ALT 8U/L S. Electrolytes Na+: 132 mmol/L, K+: 4.7 mmol/L, Cl-: 92 mmol/L MT 2 mm Sputum for AFB Negative Sputum C/S No growth. Real time multiplex PCR MTB DNA not detected Fecal fat estimation 5-10/HPF Sweat chloride test 68 mEq/L HRCT scan report Diffuse dilated bronchi with ground glass opacities noted at almost all segments of both lungs. Impression: Bilateral bronchiectatic changes with pulmonary inflammatory lesions.
Fig: CXR Fig: HRCT scan of chest
Final Diagnosis: Bronchiectasis with acute exacerbation due to Cystic fibrosis
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CASE-75
Presenting Complaints:
o Fever for 10 days.
o Cough for 10 days.
o Breathing difficulty for 5 days.
Case Summary:
XY, 1 ½ year old boy, 2nd issue of his non consanguineous parents got admitted with the complaints of high grade continued fever which was not associated with chills and rigor for last 10 days, cough without any diurnal variation for same duration and respiratory distress for last 5 days. He had H/O one episode of pneumonia 4 months back and was treated with Inj. Ceftriaxone with adequate dose for 7 days. He had no history of convulsion, bleeding manifestation, features of UTI or congenital heart disease, previous H/O any allergic manifestations, H/O chronic diarrhea, recurrent ear infection or contact with TB patient. For this illness, he got Syp.Azithromycin for 5 days and Inj. Ceftriaxone and Flucloxacillin with adequate dose for 2 days. On examination, he was febrile (temp-104℉), tachypneic (R/R: 44/min) and SPO2 : 88% at room air. Chest movement restricted on right side, subcostal recession present, trachea was deviated on left side, vocal fremitus was reduced and percussion note was dull on right side. Breath sound was vesicular but reduced, vocal resonance was also diminished on right side.
Provisional Diagnosis: Right sided pleural effusion due to pneumonia
Differential Diagnosis: Right sided pleural effusion due to pulmonary TB
Points in favor for Right sided pleural effusion due to pneumonia From history: ➢ Fever for 10 days ➢ Cough for 10 days ➢ Respiratory distress for 5 days On examination: ➢ Features of respiratory distress (tachypnea, subcostal recession, low SPO2) ➢ Features of right sided pleural effusion
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Points in favor for Right sided pleural effusion Points against due to pulmonary TB From history: ➢ Fever and cough for short ➢ Fever duration ➢ Cough ➢ No contact history ➢ Respiratory distress for 5 days ➢ BCG mark present On examination: ➢ Features of respiratory distress (tachypnea, subcostal recession, low SPO2) ➢ Features of right sided pleural effusion
Investigations:
CBC Hb: 10.8 g/dl ESR: 27mm in 1st hour WBC count: 26,500/cmm DC: N- 60%, L- 35%, E- 00 %, M- 05 % Platelet: 3,00,000/cmm S. Creatinine 0.36 mg/dl S. LDH 371 U/L S. Albumin 28 gm/l MT 0 mm Sputum for AFB Negative USG of Chest Severe lung parenchymal disease. Gross right pleural effusion. Pleural fluid study - Amount: 160ml - Color: Creamy - Appearance: Hazy - WBC: 8000; N- 40%, L- 60% - Gram staining: few gram negative organism - Pleural fluid for AFB: Not found - ADA: 430 U/L - Glucose: 0.3 mmol/L - Protein: 38 gm/L - Gene Xpert: Negative
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Fig. CXR : Right hemithorax- homogenously opaque, obscuring the rt. costophrenic and cardiophrenic angle, no mediastinal shifting.
Fig: X-ray after treatment on HS: D-7 (Dense homogenous opacity in mid and lower rt. hemithorax with fluid level, obscuring the rt. costophrenic and cardiophrenic angle, no mediastinal shifting.
Final Diagnosis: Empyema thoracis due to pneumonia
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CASE-76
Presenting Complaints:
o Cough for 1 month. o Fever for 1 month. o Loss of appetite and gradual weight loss 2 months.
Case Summary:
XX, 12-year old immunized girl,1st issue of her non-consanguineous parents, from average socioeconomic background presented with non-purulent productive cough, low grade intermittent fever with evening rise of temperature and night sweat for 1 month, gradual weight loss with anorexia for 2 months. She had history of contact with TB patient. She had no H/O chills and rigor, respiratory distress, abdominal pain, altered bowel habit, altered sensorium, vomiting, taking any offending drugs. On examination, she was febrile, moderately pale. BCG mark present, no lymphadenopathy. Anthropometrically, she was underweight. Her breath sound was vesicular with coarse crackles on left 4th-6th ICS on midclavicular, midaxillary lines and mid-scapular lines. There was no organomegaly.
Provisional Diagnosis: Pulmonary Tuberculosis
Differential Diagnosis: Lymphoma
Points in favor for Pulmonary Tuberculosis H/O contact with TB patient. Persistent non-remitting cough for > 2weeks not responding to conventional antibiotics. Persistent fever >2weeks with evening rise of temperature. H/O weight loss. Chest auscultation – coarse crackles.
Points in favor for Lymphoma Points against Fever No lymphadenopathy Weight loss Fever was not high grade There was no drenching night sweat.
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Investigations: CBC Hb: 9.5 g/dl ESR: 114 mm in 1st hour WBC count: 154,000/cmm DC: N- 80%, L- 14%, E- 04 %, M- 05 % Platelet: 3,00,000/cmm S. Creatinine 0.4mg/dl S. ALT 9 U/L S. LDH 160 U/L Urine R/M/E Normal Blood C/S No growth. MT 6 mm Sputum for AFB 3 consecutive early morning sample: Positive. Sputum for Gene Xpert MTB detected, RIF highly sensitive CXR Suggestive of Pulmonary tuberculosis
Fig: Inhomogeneous opacities seen in all zones of left and lower zone of right lung.
Final Diagnosis: Pulmonary Tuberculosis
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Pediatric Case Diary
CASE-77
Presenting Complaints:
o Fever for 1 month. o Cough for 20 days. o Respiratory distress for 3days. Case Summary:
XY, 6-year old immunized boy, only issue of non-consanguineous parents hailing from Dhaka presented with low grade intermittent fever initially for 1 month then became high grade with evening rise of temperature, non productive cough and occasional right sided chest pain for 10 days and respiratory distress for 3 days. He also had generalized weakness, anorexia and loss of body weight. He had no H/O bleeding manifestation, abdominal pain, altered bowel habit, any contact with TB patient. On examination, he was febrile, mildly pale, RR: 42 br/min, BCG mark present, no lymphadenopathy, anthropometrically- well thriving. Respiratory system examination showed features of right sided pleural effusion manifested by reduced chest movement and expansibility on right side, shifting of mediastinum to the left, percussion note stony dull and decreased vocal fremitus and vocal resonance with absent breath sound on right side from 2nd to 6th ICS. There was no organomegaly. Others systemic examinations revealed no abnormalities.
Provisional Diagnosis: Right sided pleural effusion most probably due to Pneumonia (Para pneumonic effusion).
Differential Diagnosis:
Right sided tubercular pleural effusion
Lymphoma
Para pneumonic effusion
Points in favor for Para pneumonic effusion Points against ❑ High grade fever ❑ Symptoms persisting >3 weeks ❑ Cough ❑ Weight loss ❑ Fast breathing ❑ Anorexia ❑ Features of pleural effusion on right side.
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Pediatric Case Diary
Points in favor for Right sided tubercular Points against pleural effusion ❑ Persistent fever >2weeks ❑ No H/O contact with known TB ❑ Prolong cough >2weeks patient ❑ Anorexia and generalized weakness ❑ BCG vaccinated ❑ Weight loss ❑ No lymphadenopathy
Points in favor for Lymphoma Points against ❑ Persistent fever 1 month ❑ No lymphadenopathy. ❑ Prolong cough >2weeks ❑ No organomegaly. ❑ Anorexia and generalized weakness ❑ No typical Pel – Ebstein type of fever ❑ Weight loss ❑ No history of night sweats. ❑ No bleeding manifestation
Investigations:
CBC Hb: 11 g/dl , ESR: 40 mm in 1st hour WBC count: 7,400/cmm DC: N- 54.3% , L- 38% , E- 0.5% , M –7.2% Platelet: 3,95,000/cmm MT 14 mm (Positive) Pleural fluid study Physical Examination: Color: Straw color Appearance: hazy Cytology: TC of WBC: 180 cells/ cumm DC: N-10%, L-90% Biochemistry: Protein: 50.26 gm/l Glucose: 3.44 mmol/l Microbiology: Gram stain: no organism Z.N. stain: AFB not found ADA-45 U/L C/S: no organism Gene Xpert: Negative Cytospin and histopathology: Atypical cell and malignant cell: Absent S. LDH 343 U/L
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S. SGPT 15U/L USG of chest There were few pockets of encysted collection in right para scapular region, appeared to be in upper zone of right lung. Height of the fluid in biggest pocket- 13mm.
Fig: Rt. sided pleural effusion Fig: After pleural fluid aspiration
Fig: Pleural fluid straw color
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Pediatric Case Diary
Management on admission:
Counseling Diet –Normal Tab Paracetamol Inj. Ceftriaxone (100mg/kg/day once daily) Inj. Flucloxacillin (50gm/kg/day,6hourly) Susp. Azithromycin (10mg/kg/day) Follow up on D7
• Fever persisting • On chest auscultation- Breath sound diminished, vocal resonance reduced from 2nd to 6th ICS MCL, Mid axillary and post scapular line • Repeat Chest X-ray
Fig: Dense homogenous opacity noted having curvilinear upper margin along the lateral aspect of Right lung
Plan to Start Anti-TB drugs
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Pediatric Case Diary
Follow up on D13 (Anti tubercular therapy-D6): Fever persisting but in less intensity
Follow up on D17 (ATT-D10)
• Afebrile for 2 days. • On chest auscultation- Breath sound diminished on lower part of right lung, vesicular on other areas. Vocal resonance reduced from 4th ICS downwards at MCL, Mid axillary line.
Follow up on D24 (ATT-D17)
• Afebrile for last 09 days. • No other complaints • Increased appetite • Gained weight • Discharge with Anti-TB drugs for total 6 months
Fig: CXR during discharge (Radiological improvement seen)
Final Diagnosis: Right sided pleural effusion due to Tuberculosis.
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Pediatric Case Diary
CASE-78
Presenting Complaints:
o Swelling of whole body for 9 days.
o Scanty micturition for same duration.
Case Summary:
XY, 16-day old male baby, 4th issue of non consanguineous parents, hailing from Feni presented with the complaints of generalized swelling and scanty micturition for 9 days. Mother XX, 32-year old lady, para 4 (2+2 infantile death), having blood group B (+ve), was on regular ANC, immunized against tetanus. She had no H/O DM, HTN, PROM, APH, fever with rash, joint pain, oral ulceration or taking any nephrotoxic drugs but she gave H/O hypothyroidism and she took Thyroxin (5μg/kg/day) for last 2 years. A male baby was born by NVD at home. There was H/O of large placenta and birth weight was about 2 kg but not documented and baby cried immediately after birth. He was on EBF since birth and his 2 sibs died due to same illness. On examination, the baby was pink in air, had puffy face, reflex and activity good, normothermic, euglycemic, well perfused, BSUA: ++++. R/R- 52/min with normal chest findings, H/R- 144/min, no murmur. Per abdominal examination: abdomen was soft, distended, non tender, ascites present, no organomegaly, genitalia normal, male pattern. Other systemic examinations revealed no abnormalities.
Fig: Our Case Fig: BSUA ++++
Provisional Diagnosis: Congenital Nephrotic Syndrome.
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Pediatric Case Diary
Point in favor Age:16 days Swelling of whole body for 9 days. Scanty micturition for same duration. On examination: Puffy face Generalized edema BSUA : ++++
Investigations:
CBC Hb- 22.3 g/dl, ESR- 05 mm in 1st hour TC of WBC- 9,500/cumm DC- N: 27%, L: 62%, E: 04%, M: 04% Urine R/M/E Protein : +++ , Pus cell : 2-4/HPF RBC : 3-5/HPF, Cast : Not found Urinary protein 817.7 mg/dl Urinary creatinine 16.7 mg/dl Protein creatinine ratio 48.96 S. Creatinine 0.28mg/dl S. Calcium 6.3 mg/dl S. Albumin 10gm/L S. Total protein 32g/L A:G 0.45:1 S. Electrolytes Na+: 132mmol/L, K+: 5.2mmol/L Cl-: 99mmol/L , T-CO2- 18.6mmol/L SGPT 11U/L Total Cholesterol 354mg/dl. TORCH Screening Toxo-IgG, IgM- Negative. Rubella-IgG, IgM- Negative. CMV-IgG, IgM- Negative. HSV 1and 2-IgG, IgM- Negative. S. C3 0.50g/L USG of whole abdomen Both kidneys: swollen. Cortical echogenicity increased on the both kidneys. Cortico- medullary differentiation is compromised.
Final Diagnosis: Congenital Nephrotic Syndrome.
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Pediatric Case Diary
CASE-79
Presenting Complaints: o Swelling of whole body for 10 days. o Scanty micturition for same duration.
Case Summary: XY, 11-year old boy, only issue of his non consanguineous parents, hailing from Rajshahi got admitted with the complaints of generalized swelling of body for 5 days along with scanty micturition for same duration. He had no history of fever, abdominal pain, diarrhoea, hematuria, burning sensation during micturition, cough, atopy, oral ulcer, sore throat, photosensitivity, rash, headache, convulsion, taking any offending drugs or contact with any TB patient. On examination, he had puffy face with generalized edema. He was mildly pale, anicteric, vitals within normal limit and BSUA: ++++. Anthropometrically, he was well thriving. Genitourinary system examination revealed distended abdomen, ascites and scrotal swelling were present. Other systemic examinations revealed no abnormality.
Provisional Diagnosis: Nephrotic Syndrome (1st attack) Points in favor - Swelling of face and body - Scanty micturition - BSUA: ++++ - Gross edema present with ascites
Differential Diagnosis:
Acute Glomerulonephritis
Points in favor Points against - Swelling of face and body - No H/O sore throat, skin infection - Scanty micturition - No H/O hematuria - Age suggestive - Not Hypertensive - BSUA: ++++
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Pediatric Case Diary
Investigations:
For diagnosis Urine R/M/E ➢ Pus cells : 10-12/HPF ➢ Epi cells : 8-10/HPF ➢ RBC: 0-2/HPF ➢ Granular cast found ➢ Albumin : +++ 24 Hours UTP 3.43 gm/day Serum Albumin 13 gm/l Serum Cholesterol 459 mg/dl Serum Creatinine 0.28 mg/dl Serum Electrolytes Sodium (Na+) : 135mmol/L Potassium (K+) : 4.0mmol/L Chloride (Cl-) : 105 mmol/L Serum Calcium 6.8 mg/dl For Infections Screening CBC Hb% : 12.6 gm/dl TC : 7,000/cumm DC: N- 70%. L- 26%, E- 2%, M-2% Platelet : 3,50,000/cumm ESR : 60 mm in 1st hour Tuberculin Test 2 mm (Negative) HBsAg (screening) Negative CXR Normal Others: C 3 1.21 gm/l (Normal) USG KUB Ascites present
Final Diagnosis: Nephrotic Syndrome (1st attack)
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Pediatric Case Diary
CASE-80
Presenting Complaints:
o Swelling of whole body for 7 days.
o Passage of red colored urine for same duration.
o Scanty micturition for same duration.
Case Summary:
XY, 7-year old boy, 7th issue of non-consanguineous parents, hailing from Munshiganj, immunized, got admitted with the complaints of generalized swelling with hematuria and oliguria for 7 days. He had history of sore throat 2 weeks prior to this illness and skin infection 4 weeks back. He had no history of respiratory distress, headache, vomiting, convulsion, unconsciousness, burning sensation during micturition, joint pain, photosensitivity, oral ulcer and taking any offending drugs or same type of illness before. On examination, he was well alert, had puffy face, mildly pale, edematous, afebrile, pulse 84/min, BP- 120/90 mm of Hg (systolic and diastolic lie above 99th centile), multiple scar marks of skin infection present all around the body especially around the umbilicus, groin, elbow, dorsum of the feet. Some were healed and some infected, throat mildly congested, bed side urine for albumin: (+). Anthropometrically, he was well thriving, ascites present as evidenced by shifting dullness. Other systemic examinations revealed no abnormalities.
Fig: Multiple scar marks and papular lesion on skin
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Pediatric Case Diary
Fig: High colour urine
Provisional Diagnosis: Acute Glomerulonephritis (most probably Post-infectious Glomerulonephritis) with Infected Scabies
Points in favor for AGN • Age-7 years • H/O sore throat • Skin infection • Hematuria • HTN • Edema • Ascites • Oliguria • BSUA: +
Differential Diagnosis: Nephrotic Syndrome (Atypical presentation) with Infected Scabies
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Pediatric Case Diary
Points in favor for Nephrotic Syndrome Point against (Atypical presentation) - Hematuria - H/O Skin infection - HTN - BSUA: + - Edema - Ascites - Oliguria
Investigations: Urine R/M/E Protein : ++ Pus cell : 2-4/HPF RBC : 20-25/HPF Cast : Not found Urine C/S No growth CBC Hb : 9.7g/dl ↓ ESR: 41 mm in 1st hour WBC: 15,000/cmm N - 55%, L - 35%, E- 4%, M- 6% Platelet:4,00,000/cmm S. Albumin 32 gm /dl Serum Cholesterol 127 mg/dl 24 hrs UTP 1.5 gm/day Serum Creatinine 0.5 mg/dl Serum Electrolytes Sodium (Na+) : 138 mmol/L Potassium (K+) : 4.6 mmol/L Chloride (Cl-) : 105 mmol/L TCO2 : 24.5 mmol/L C3 level 0.181 g/l ↓ (0.9- 1.8) C4 level 0.158 g/l (0.1- 0.4) ASO Titre 850 IU/ml ↑ ANA Negative HBsAg Negative
Final Diagnosis: Acute Post Streptococcal Glomerulonephritis with Infected Scabies
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Pediatric Case Diary
CASE-81
Presenting Complaints:
o Multiple reddish spot over legs and hands for 20 days.
o Swelling of whole body and scanty urine for 20 days.
o Passage of reddish urine for same duration.
Case Summary:
XX, 10½ year old girl, 1st issue of non consanguineous parents immunized, belonging to middle class family, hailing from Moulovibazar got admitted due to purpuric rash over legs and hands for 20 days, with no itching but associated with low grade intermittent fever. She also developed generalized edema, oliguria and hematuria for same duration. She also had H/O abdominal pain and vomiting 1 month back. Pain was diffuse, dull and continuous which was associated with vomiting, but there was no hematemesis. She had no H/O joint pain, bloody diarrhoea, oral ulceration, photosensitivity, skin infection, headache, convulsion, respiratory tract infection and no family H/O such type of illness.
On examination, she had puffy face, mild pallor, Temp-98°F, Pulse- 96 /min, R/R-26 /min, BP- 120/85 mm of Hg (Systolic- 95th centile, diastolic- 99th centile), BCG mark present, multiple palpable purpuric rash present over extensor surface of both legs, did not blanch on pressure, weight: 32 kg (between 25th and 50th centile). Height: 142 cm (between 50th and 75th centile), BSUA: +++ and Ascites present. Other systemic examinations revealed normal findings.
Provisional Diagnosis: HSP Nephritis
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Pediatric Case Diary
Points in favor for HSP Nephritis Points against • Palpable purpuric rash on extensor • Age surface of both limbs. • Abdominal pain and vomiting • Generalized edema • Oliguria, Hematuria • HTN • BSUA: +++ • Ascites Differential Diagnosis: Lupus nephritis
Points in favor for Lupus nephritis Points against • Age • Distribution of rash. • Sex • No H/O oral ulcer, photosensitivity, • Rash arthritis • Generalized edema • No lymphadenopathy and • Oliguria, Hematuria organomegaly. • HTN • BSUA +++ • Ascites Investigations:
CBC Hb: 8.5 g/dl ESR: 57 mm in 1st hr WBC(TC): 17,000/cmm DC- N: 82%, L: 14%, E: 2%, M: 2% Platelet: 2, 30,000/cu.mm PBF Normocytic normochromic anemia with leukocytosis Urine R/E Pus Cell: 15-20/HPF RBC: Plenty Protein: +++ Urine C/S No growth S. Creatinine 1.1 mg/dl (D1) 1.42 mg/dl (D2) 1.7 mg/dl (D4) 1.57 mg/dl (D6) 1.23 mg/dl (D9) 1.18 mg/dl (D12) Blood Urea 84 mg/dl Serum Electrolytes Sodium (Na+): 131 mmol/L
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Pediatric Case Diary
Potassium (K+): 3.3 mmol/L Chloride (Cl-): 103 mmol/L TCO2 : 23 mmol/L S. Albumin 15 g/L S. Cholesterol 187mg/dl SGPT (ALT) 26 U/L 24 hours UTP 4.61gm/day ANA Negative Anti ds DNA 10.5 U/ml S. C3 Normal S.C4 Normal ANCA Negative pANCA Negative HBsAg Negative Anti HCV Negative PT Normal APTT Normal Renal biopsy Mild mesangial proliferation.
Final Diagnosis: Rapidly Progressive glomerulonephritis due to HSP Nephritis
Rash in other case:
Case: 1 Case: 2
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Pediatric Case Diary
CASE-82
Presenting Complaints:
o H/O multiple wasp stings 5 days back. o Scanty micturition for 3 days. o Swelling of the whole body for same duration. o Respiratory distress for 1 day. Case Summary:
XX,4 ½ year old girl, 2nd issue of her non consanguineous parents, immunized as per EPI schedule hailing from Lakshmipur, got admitted in BSMMU with the complaints of multiple wasp stings all over the body 5 days back followed by oliguria and generalized edema starting from periorbital region for 3 days and dyspnea for 1 day. There was no history of hypertensive encephalopathy, rhabdomyolysis, hemolysis, coagulopathy, fever or taking any offending drugs. On examination, she was drowsy, had puffy face, bilateral pitting edema present, afebrile, vitals: stable except tachypnoea (R/R: 46 breaths/min). Skin survey revealed multiple marks of wasp bite all over the body, BSUA: nil. Genitourinary system revealed ascites as evidenced by shifting dullness. Respiratory system examination showed acidotic pattern of breathing. Other systemic examinations revealed normal findings.
Fig: Marks of wasp stings
Provisional Diagnosis: Acute kidney injury due to wasp stings.
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Pediatric Case Diary
Points in favor of Acute kidney injury due to wasp stings From history : ▪ H/O wasp stings. ▪ Swelling of whole body. ▪ Scanty micturition. ▪ Dyspnea. On Examination : ▪ Drowsy. ▪ Generalized edema. ▪ Ascites. ▪ Acidotic pattern of respiration. ▪ Multiple sting marks present.
Investigations:
Urine R/E Sp. Gravity: 1.020 pH : 6 Protein: nil Pus cell : 8-10/HPF Epithelial cell : 8-10/HPF RBC : nil Cast : Not found CBC Hb: 11.5 g/dl, ESR: 5mm in 1st hr WBC(TC): 12,000/cu. mm DC: N: 80%, L: 16%, E: 2%, M: 2%, B: 00% Platelet Count: 4, 50,000/cmm Hct : 41.5 PBF Normocytic normochromic anemia with leukocytosis Serum Electrolytes Sodium (Na+): 136 mmol/L Potassium (K+): 6.3 mmol/L Chloride (Cl-): 103 mmol/L TCO2 : 7.1 mmol/L Blood urea 279 mg/dl S. Creatinine 9.59 mg/dl Urine for eosinophil +
Final Diagnosis: Acute kidney injury due to wasp stings.
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Pediatric Case Diary
Treatment: Counseling Diet-NG feeding with salt and fruits restricted Fluid- Previous day output+ insensible loss (250 ml) Inj. Ceftriaxone Inj. Ranitidine Intermittent peritoneal dialysis Mupirocin ointment Monitoring of vital signs, I/O chart, BP chart and weight chart
Fig: Intermittent peritoneal dialysis
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Pediatric Case Diary
CASE-83
Presenting Complaints: o Difficulty in breathing for 2 days. o Dribbling of urine since birth.
Case Summary:
XY, 11-month old boy, only issue of non-consanguineous parents, partially immunized as per EPI schedule, hailing from Khulna presented with the complaints of breathing difficulty for 2 days, vomiting occasionally irrespective of feeding since 3 months of age and dribbling of urine since birth. He had history of UTI at 6 month of age and was treated accordingly. There was no history of fever, dysuria, red urine, genital instrumentation, fever, convulsion, unconsciousness, no family history of renal disease or maternal antenatal oligohydramnios. On examination, he was dyspneic, moderately pale, afebrile, tachypneic, hypertensive, anthropometry showed moderately stunted and severely underweight. On systemic examination, abdomen was distended, kidneys were ballotable, urinary bladder- palpable, ascites- absent, genitalia- normal, lungs- clear, back and spine- normal. Other systemic examinations revealed no abnormality.
Provisional Diagnosis: Chronic Kidney Disease due to Obstructive Uropathy (most probably due to Posterior Urethral Valve) with Failure to Thrive
Points in favor for CKD History: • Breathing difficulties • Vomiting O/E: • Moderately pale • Hypertension • Growth failure
Posterior Urethral Valve History: • Male child • Dribbling of urine since birth O/E: • Ballotable kidney • Palpable urinary bladder
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Pediatric Case Diary
Investigations:
Urine R/M/E Protein : +++ Pus cell: 15-25/HPF RBC: Plenty/HPF Cast: Not found Urine C/S No growth CBC Hb: 7.3 gm/dl ESR: 62mm is 1st hour TC: 19,000/cmm, N- 35%, L- 60%, M- 3%, E- 2%, Platelet: 3,80,000/cmm PBF Moderate microcytic hypochromic anemia with leukocytosis Serum Creatinine 2.15 mg/dl (↑) eGFR 12.6ml/min/1.73m2 Inorganic Phosphate 6.8 mg/dL PTH 692.5 pg/ml S. Albumin 35 gm/L Serum Electrolytes Na+: 134 mmol/L K+: 4.6 mmol/L Cl- : 107 mmol/L TCO2 : 11.2 mmol/L S. Urea 108.9 mg/dL Alkaline Phosphate 176 U/L S. Calcium 8.4 mg/dL USG of KUB ▪ Bilateral marked hydronephrosis with renal parenchymal disease ▪ Bilateral gross hydroureter (megaureter) ▪ Suggestive of cystitis Retrograde urethrogram ▪ Posterior urethral valve was present. with MCU ▪ Cystogram showing irregular and sacculated bladder outline- cystitis ▪ Vesico-ureteric reflux seen on both sides up to both kidneys with moderate dilatation of pelvi-calyceal system and ureters –Grade 5 ▪ No post-voidal residue present.
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Pediatric Case Diary
Fig: Retrograde urethrogram (RGU) with MCU
Final Diagnosis: Chronic Kidney Disease (stage V) due to Posterior urethral valve with Failure to Thrive
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Pediatric Case Diary
CASE-84
Presenting Complaints:
o Swelling of face for 3½ months. o Scanty micturition for same duration. o H/O convulsion followed by weakness of right side of body 20 days back.
Case Summary:
XY, 15-year old boy, hailing from Kishorgonj, got admitted with the complaints of swelling of face for 3½ months which was non progressive. He also developed scanty micturition for same duration occurring 3 to 4 times in a day, no altered colored, not associated with burning sensation or dribbling. On query, he also complained of easy fatigability even in normal household activities, not associated with respiratory distress on changing position. For these complaints, he took some medications from local doctors but the names couldn’t be mentioned by the attendants.He developed sudden onset of afebrile convulsion for three episodes, 20 days back that persisted for 10 to 15 mins which was generalized tonic clonic in nature, followed by unconsciousness for few hours with subsequent development of weakness in right side of the body, not associated with bowel bladder incontinence. His brother also gave H/O occasional headache, visual disturbance, weight loss and dysarthria during this period of illness.
For these problems, he was admitted in a well equipped private medical college hospital where after doing some investigations hemodialysis was done and 3 units of blood transfusion were given. Then he was referred to BSMMU for further evaluation and management. He had no H/O vomiting, polyuria, polydipsia, photosensitivity, skin rash, joint pain, contact with TB patient.On general examination, he was ill-looking, severely pale, right sided facial nerve palsy was present, CV line on right sided neck vein, a procedure mark for femoral catheter was found in front of the thigh on left side. Tachypnea, tachycardia, HTN, bilateral pedal edema and severe growth retardation were present. BSUA- nil. On nervous system examination, higher psychic function intact, dysarthria present, Rt sided UMN type of facial nerve palsy present. UMN type of hemiplegia was also present on both lower limbs and right upper limb and a soft systolic flow murmur present on pulmonary area.
Provisional Diagnosis: Chronic kidney Disease with Acute stroke syndrome.
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Pediatric Case Diary
Points in favor for CKD 1. Severe pallor 2. HTN 3. Growth retardation 4. Tachypnea 5. H/O dialysis Points in favor for Acute stroke syndrome 1. Neurological manifestation 2. HTN
Investigations:
Urine R/E Pus cell : 1-3/HPF Protein : (+) Blood urea 372.4 mg/dl S. Creatinine 17.43 mg/dl GFR estimation 5.7 ml/min/1.73m2 CBC with PBF Hb : 5.2g/dl (↓) ESR: 43 mm in 1st hour WBC: 6,500/cmm Platelet: 1,60,000/cmm N - 74%, L - 22%, E - 2%, M- 2% MCV : 80.8 fl MCH : 26.9 pg MCHC : 33.3% PBF Normocytic normochromic anemia. S. Electrolytes Sodium (Na+) : 140 mmol/L Potassium (K+) : 7.6 mmol/L Chloride (Cl-) : 108 mmol/L TCO2 : 7 mmol/L S. Calcium 5.8 mg/dl S. Inorganic phosphate 14.6 mg/dl S. PTH 508 pg/ml S. Alkaline phosphatase 197 U/L HbsAg Negative USG of KUB region Both kidneys- smaller in size, parenchyma appearing echogenic, cortico-medullary differentiation- lost
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Fig: CT scan of brain
Final Diagnosis: ESRD on maintenance hemodialysis with bilateral hypoplastic kidneys with acute stroke syndrome.
Treatment: 1. Counseling 2. Renal diet 3. Nutritional management 4. Blood Transfusion 5. Antihypertensive drug 6. Mx of hyperkalemia
7. Mx of hypocalcemia 8. Renal replacement therapy (RRT)
Fig: CV line on neck
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Pediatric Case Diary
CASE-85
Presenting Complaint:
o Polydipsia, polyuria since his 6 months of age.
Case Summary: XY, 2-yr old immunized boy, hailing from Comilla, 4th issue of his non consanguineous parents got admitted with the complaints of polydipsia, polyuria since his 6 months of age. He also had low grade irregular fever for same duration. He had no history of respiratory distress, polyphagia, swelling of body, vomiting, dribbling of urine, dysuria, surgery, cranial irradiation or taking any offending drugs. He had developmental delay. His elder brother had suffered from same type of illness. On examination, he was active, cooperative, not pale, afebrile, not dehydrated. Vitals were within normal range, moderately wasted and systemic examination revealed normal findings. Provisional Diagnosis: Diabetes Insipidus
Points in favor for Diabetes Insipidus • Polyuria • Polydipsia • Irregular fever • Family history of same type of illness • Growth failure Differential Diagnosis: Renal Tubular Acidosis Points in favor Points against • Polyuria • No acidotic breathing • Polydipsia • Growth failure Diabetes Mellitus (DM) Points in favor for DM Points against DM • Polyuria • No h/o polyphagia • Polydipsia • No complication of DM • Growth failure Chronic kidney disease Points in favor Points against
• Polyuria • No acidotic breathing • Polydipsia • No pallor • Growth failure • No bony deformity
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Pediatric Case Diary
Investigations
Urine R/E Specific gravity: 1.000 ↓ pH : 5.0 Color : Colorless Protein : Nil Pus cell : 0-1/HPF RBC : Nil Urine C/S No growth CBC Hb% : 12.9 gm/dl ESR :10 mm in 1st hr WBC : 11,670/cumm DC : N- 33.3%, L- 53.6%, E- 9.2% Platelet : 382000/cumm RBS 4.9mmol/L S. Electrolytes Na+: 141 mmol/L, K+: 3.4 mmol/L Cl-: 111 mmol/L, TCO2: 19 mmol/L Anion gap: 14.02 mmol/l S. Calcium 2.61mg/dl S. Inorganic phosphate 1.72mmol/L Urinary Total calcium 0.01mg/l Urinary Calcium: Creatinine 0.03 S. Creatinine 0.3 mg/dl Water deprivation test At 7 A.M: • Plasma Osmolality: 287mosmol/L • Urine Osmolality: 71 mosmol/L At 11 A.M: • Plasma Osmolality: 301mosmol/L • Urine Osmolality: 70 mosmol/L At 12.30 A.M (after giving DDAVP): • Plasma Osmolality: 291mosmol/L • Urine Osmolality: 62 mosmol/L DDAVP did not concentrate the urine, so it is Nephrogenic Diabetes Insipidus X-ray KUB region No radio opaque shadow, fecal impaction present
Final Diagnosis: Nephrogenic Diabetes Insipidus
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Pediatric Case Diary
CASE-86
Presenting Complaints:
o Passage of red color urine for 3 months. o Weight loss for same duration. o Fever and cough for 1 month.
Case Summary:
XX, 15-yr old girl, not immunized, 4th issue of her non-consanguineous parents, hailing from Hobigonj got admitted with the complaints of gross hematuria without dysuria for 3 months, significant weight loss for same duration and high grade continued fever with chills and rigor for last 1 month associated with dry cough without any diurnal variation. She also had anorexia, fatigue and weakness. She had no H/O sore throat, skin infection, oral ulceration, photosensitivity, skin rash, joint pain, edema, no contact with TB patient, taking any offending drugs. O/E, she was ill looking, cachectic, severely pale, non icteric, febrile, hypotensive, BCG markabsent, not edematous, well perfused, BSUA++, urine reddish in color, anthropometrically- she was severely underweight. Other systemic examinations revealed nothing abnormality.
Fig: Red color urine
Differential Diagnosis: CKD due to Glomerulonephritis
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Pediatric Case Diary
CKD Glomerulonephritis (GN) Points in favor : Point in favor : • Weight loss • Hematuria • Severe pallor • Proteinuria • Severe under weight Points against : • Anorexia, nausea, fatigue. • No edema • No HTN
Differential Diagnosis:
Lupus nephritis
Points in favor Points against • Female child • No oral ulceration, • Hematuria photosensitivity, rash, • Proteinuria arthritis. Renal Tuberculosis
Points in favor Points against • Hematuria • Uncommon in children • Proteinuria • No previous h/o TB • Weight loss • No contact h/o TB patient • BCG mark absent Investigations:
Urine R/M/E Appearance: Hazy, Protein : ++ Pus cells : 40-50/HPF, RBC : Plenty Crystals : Not found Urine C/S No growth. Blood C/S No growth. CBC Hb : 5.9g/dl ESR: 96 mm in 1st hour WBC: 9,000/cmm N : 75%, L : 20%, E: 3% M: 2% Platelet:3,80,000/cmm PBF Severe microcytic hypochromic anemia with leukocytosis. S. Albumin 25 gm /dl Serum Cholesterol 86 mg/dl 24 hrs UTP 1.5 gm/m2/day Serum creatinine 0.89 mg/dl
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Serum Electrolytes Na+: 138 mmol/L K+: 4.7 mmol/L Cl- : 104 mmol/L TCO2 : 23 mmol/L ANA Negative. Anti ds DNA Negative. C3 level 0.9 g/l (0.9- 1.8) C4 level 0.2 g/l (0.1- 0.4) MT 2 mm RBS 6 mmol/L HBsAg Negative Sputum for AFB Not found LDH 222 U/L SGPT 12 U/L CXR Normal study USG of KUB region Pyonephrosis of Rt. kidney with hydronephrosis. Suggestive of cystitis. Sputum for gene X-pert Mycobacterium TB detected. Rifampicin sensitive. Urine for gene X-pert Mycobacterium TB detected. Repeat USG of KUB region Bilateral renal parenchymal disease with hydronephrosis (grade 3 in right kidney and grade 1 in left kidney). Thick and irregular wall of urinary bladder with debris (suggestive of cystitis). IVU - Excretory function of right kidney- grossly impaired. - Distal end of left ureter-mildly irregular with narrowed uretero-vesical junction causing grade 1 hydronephrosis in left kidney and ureter. - Excretory function of left kidney- normal. - Cystogram: normal. - No significant PVR present.
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Pediatric Case Diary
Fig: X-ray KUB and IVU
Plan: CT Urogram
Final Diagnosis: Disseminated Tuberculosis.
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Pediatric Case Diary
CASE-87
Presenting Complaints:
o Passage of red color urine for 7 days. o Lower abdominal pain for 3 days. o Fever for 3 days. Case Summary: XY, 7-year old boy, only issue of non-consanguineous parents, developmentally age appropriate, hailing from Kathalbagan, presented with the complaints of hematuria for 7 days, not associated with oliguria but had occasional dysuria for 3 days. He had H/O fever which was low grade, intermittent, not associated with chills and rigor for last 3 days. He had hearing difficulty but no visual problem or headache and his maternal uncle suffered from CKD.Onexamination, he was febrile, other vitals were within normal limit, anthropometrically- well thriving, ENT normal, BSUA +++. Other systemic examinations revealed nothing abnormality.
Rinne test Weber test Provisional Diagnosis: Alport Syndrome (most probably X-linked variety) with UTI.
Points in favor Points against ▪ Male sex, Positive family history No H/O visual problem. ▪ Hematuria. ▪ Proteinuria. ▪ High frequency hearing deficit.
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Pediatric Case Diary
Urinary Tract Infection
• Fever. • Dysuria.
Investigations:
Urine R/M/E Protein :+++ Pus cell : 10-15/HPF RBC : 10-12/HPF Cast : Not found Urine C/S No growth CBC Hb : 12.4g/dl, ESR: 51 mm in 1st hour WBC: 11,000/cmm, N - 72%, L - 33%, Platelet: 3,00,000/cmm S. Albumin 30 gm /dl Serum Cholesterol 228 mg/dl 24 hrs UTP 1.56 gm/day Serum creatinine 2.44 mg/dl (↑) Serum Electrolytes Na+:136 mmol/L, K+: 3.8 mmol/L Cl- : 110 mmol/L,TCO2 : 21.3 mmol/L S. Calcium 7.5 mg/dl C3 level 1.201 g/l (normal) C4 level 0.166 g/l (normal) ASO Titre 850 IU/ml (↑) ANA Negative (Sample value:3.95 U/ml) HBsAg Negative Anti HCV Negative p ANCA 3.23 U/ml (negative) PT 12 sec APTT 34 sec USG OF KUB Bilateral early renal parenchymal disease. Ophthalmological Examination Normal finding. Audiometry Bilateral Sensorineural Hearing Loss.
Final Diagnosis: Alport Syndrome with UTI.
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Pediatric Case Diary
CASE-88
Presenting Complaints:
o Fever for 2 months. o Cough and breathing difficulty for 2 months. o Swelling on both sides of the neck for same duration. Case Summary: XY, 2½ year old boy, 4th issue of non-consanguineous parents hailing from Chokoria, Chittagong presented with the complaints of high grade continued fever for 2 months. Fever was unresponsive to conventional antibiotics and antipyretics. Mother also complained of cough for 2 months which was non-productive in nature and associated with breathlessness in both lying and sitting position. It was more severe in last few days. She also complained of swelling on both sides of the neck for same duration. Two days back, mother noticed reddish spot on both eyes. On query, she gave history of gradual weight loss of her child in last 1 month. He had no history of bleeding manifestations, contact with TB patients or blood and blood products transfusion. On general examination, he was ill- looking, dyspneic, mildly pale, afebrile. Regarding anthropometry, weight was 11.5 kg (between 5th to 10thpercentile) and height: 87cm (at 10th percentile). On examination of haemopoietic system, he was mildly pale, sub conjunctivalhemorrhage present in both eyes, bony tenderness absent, cervical lymphadenopathy, hepatosplenomegaly present. On respiratory system examination, he was dyspneic, resp. rate is 44/min, chest movement, chest expansibility reduced on left side, vocal fremitus absent on left side. Percussion note dull on left side and on auscultation breath sound absent on left side and vesicular on right side. Other system examinations revealed no abnormality.
Fig: Sub conjunctival hemorrhage
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Pediatric Case Diary
Provisional Diagnosis:
Non -Hodgkin lymphoma
Points in favor Points against 1. Prolonged fever unresponsive to 1. Age antibiotic 2. Sub conjunctivalhemorrhage 2. Respiratory distress 3. Cough 4. Lymphadenopathy, hepatosplenomegaly
Differential Diagnosis: Acute Leukemia most probably Acute Lymphoblastic Leukemia with Superior mediastinal syndrome.
Points in favor Points against Features of deficiency: • Mildly pale • Fever for 2 months unresponsive to • Bony Tenderness- Absent antibiotics • Pallor- mild • Sub conjunctivalhemorrhage • No bleeding manifestations Features of infiltration: • Cervical Lymphadenopathy • Hepatosplenomegaly Features of SMS: • Respiratory distress • Cough
Disseminated Tuberculosis
Points in favor Points against • Fever, breathlessness and cough for 2 • High grade fever months • No H/O contact with TB patient. • H/O weight loss. • BCG mark present • Mildly pale • Hepatosplenomegaly • Lymphadenopathy Investigations:
CBC Hb% : 10.9 g/dl, TC WBC: 85000 /cumm DC : N-05%, L- 60%, M- 05%, Blast: 30% Platelet: 35,000/cumm, ESR : 70 mm in 1st hr.
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PBF RBC-Normocytic normochromic WBC-Increased and predominant cells are lymphocyte Platelet- Decreased. Bone Marrow Examination Cellularity: Hypercellular Myeloid : Erythroid Ratio: Increased Erythropoiesis: Depressed Granulopoiesis: Depressed Megakaryocytes: Scanty Bone marrow Differentials: Lymphoblast: >90% Diagnosis: Acute Lymphoblastic Leukaemia (ALL) FNAC cytopathology Suggestive of Malignant Round Cell Tumor. Immunophenotyping Flow cytometry: cyCD3- Positive, CD5-Positive, CD7-Positive Comment: Acute Lymphoblastic Leukaemia(T-ALL) S. ALT 16 U/L S. Uric acid 590µmol/L S. LDH 6865U/L S. Inorganic Phosphate 5.1 mg/dl S. Creatinine 0.39 mg/dl S. Electrolytes Na+: 136 mmol/L, K+: 3.7 mmolL, Cl-: 97 mmol/L PT, INR, APTT 14.10 seconds, INR-1.01, 32 seconds
Chest X-Ray: Dense homogenous opacity noted at left hemithorax obscuring left heart border and left dome of diaphragm. Its medial border merged within the mediastinum.
Final Diagnosis: Acute Lymphoblastic Leukemia with Superior mediastinal syndrome with hyperleukocytosis.
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Pediatric Case Diary
CASE-89
Presenting Complaint:
o Fever for 1 month
Case Summary:
XX, 10-month female infant was admitted with the complaints of fever for 1 month which was initially low grade irregular; later became high grade continued for last 7 days and for this, she was treated with injectable antibiotics for 5 days at a private hospital. There was also history of bleeding manifestation for last 5 days, she had spontaneous scanty fresh bleeding from mouth for 3 times. Mother also gave history of poor feeding, occasional vomiting and reduced playfulness. On query, she mentioned about multiple nodular swelling over skin of scalp, lower limbs which appeared spontaneously for last 5 days. But there was no history of convulsion, unconsciousness, breathing difficulty, cough, excessive sweating or loose motion. She was initially treated by local physician then admitted in private hospital and treated with inj. Ceftazidime for 5 days and got transfusion (100ml PRBC, 2 units random donor platelet).
On examination, she was ill looking, pale, no dysmorphism, temp (102°F); HR 146 b/min, R/R 36 br/min. Cervical lymph nodes were palpable (firm, non-tender), but size were not significant, there were multiple palpable nontender skin nodules of different size (1- 3cm) largest one at scalp; also present over lower limbs as flesh–colored to violaceous. On anthropometric measurement, weight-8kg (10th -25th), length-70cm (25th -50th), OFC-44cm (at 50th centile). Liver was 4cm, spleen 3cm palpable. Other systemic examinations revealed no abnormality.
Provisional Diagnosis: Infantile Leukemia
Differential Diagnosis: Juvenile Myelomonocytic Leukemia (JMML)
Infantile Leukemia
Points in favor • Age < 12 months • Pallor • Fever • Bleeding • Hepato-splenomegaly • Leukemia cutis
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Juvenile Myelomonocytic Leukemia (JMML)
Points in favor • Age < 12 months • Pallor • Fever • Bleeding • Hepato-splenomegaly • Leukemia cutis
Investigations:
CBC - Hb : 5.5 gm/dl - TLC : 5,240/cumm - DC : N- 10% , L- 60%, M- 3% - Atypical cell: 27% - Platelet: 7,000 /cumm S. LDH 1332 U/L S. Creatinine 0.49 mg/dl S. Uric acid 4.8 mg/dl S. Calcium 9.5mg/dl Coagulation profile PT : 10.8 sec (control 12 sec ; INR 0.90) APTT : 27sec( Control 32 sec) Bone marrow study Comment: No marrow particles. Advice: Repeat aspiration. For morphology, immunophenotyping and cytogenetics for MLL Repeat Bone marrow study Scanty marrow particles; marrow blood contained significant number of atypical cells resembling lymphoblast. Immunophenotyping Not done
Final Diagnosis: Infantile Acute Lymphoblastic Leukemia (MLL unknown)
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Pediatric Case Diary
CASE-90
Presenting Complaints:
o Extensive oral ulcer for 1 ½ months. o High grade irregular fever, not responding to antibiotics for same duration. Case Summary: XY, 2 ½ year old immunized boy, only issue of his non-consanguineous parents, hailing from Chadpur was admitted with the complaints of extensive oral ulcer for 1 ½ months and high grade irregular fever, not responding to antibiotics for same duration. Oral ulcers were so severe that he could not take any solid food. On query, mother gave h/o gradual weakness of body. He had no h/o headache, convulsion, vomiting, cough, respiratory distress, no h/o irradiation, use of any offending drugs. He had no h/o contact with TB patient or traveling to malaria and kala-azar endemic zone. For these above complaints, he was treated by some local doctors, then in out patient department of ICMH and DMCH. But patient′s condition did not improve and he was brought to BSMMU and admitted in ENT department. They planned to do a biopsy from the ulcer. But during preoperative investigations they noticed some abnormalities in his report and referred him to Paediatric Haemato-Oncology department for further evaluation and management. O/E, he was ill looking, moderately pale. Generalised lymphadenopathy was present involving cervical, axilliary and inguinal regions. On alimentary system examination, multiple shallow ulcers were present on gum and buccal mucosa with erythematous base and whitish scab. Gum hypertrophy was present. P/A/E revealed hepatosplenomegaly. Liver was enlarged, 8 cm from rt. costal margin along rt.mid clavicular line, firm in consistency, non-tender with smooth surface and rounded border. Spleen was enlarged, 3 cm along its long axis. Other system examinations revealed no abnormality.
Fig 1: Multiple shallow ulcer with erythematous base and whitish scab present over gum and buccal mucosa. Bleeding spots, gum hypertrophy present
Provisional Diagnosis: Acute Leukemia (most probably Acute Myeloblastic Leukemia) with herpetic gingivo- stomatitis. 266
Pediatric Case Diary
Differential Diagnosis: Acute Lymphoblastic Leukemia with Herpetic gingivo-stomatitis
Points in favor of AML History: On examinations: - Age 2 ½ years - Ill looking - Prolong fever - Moderately pale - Generalised lymphadenopathy - Multiple shallow ulcer over gum and buccal mucosa - Bleeding spots, gum hypertrophy present Investigations:
Inv. Plan Expected findings Patient’s findings CBC with PBF Hb: low, TC: low/increased Hb: 6.7g/dl, TC: 2,92,150/cmm, Platelet: low, Atypical cells N: 04%, L: 07%, Atypical cell: 89%, (blast cell) Plt: 38,000/cmm, Coagulation profile APTT- 37sec, PT- 12.6 sec Bone Marrow study Hypercellular bone Hypercellular bone marrow marrow M:E- increased M:E-increased Erythropoiesis-depressed Erythropoiesis-depressed Granulopoiesis-depressed Granulopoiesis-depressed Megakaryocytes- depressed Megakaryocytes- Blast cells: 90% depressed Comment: Acute Myeloblastic Blast cells: >25% Leukemia.Advice: Cytogenetics Cytogenetics Negative for PML-RARα gene, t (15;17), AML1-ETO gene t(8; 21) and CBFB- MYH11 gene for t (16;16) X-ray Chest (P/A view) Normal Normal S. Electrolytes Normal or Increased Normal except S. LDH (S. uric acid, potassium, S. LDH: 663 U/L S. Uric acid phosphate, LDH) S. Calcium S. Creatinine S. Inorganic phosphate HBsAg Negative Echocardiography Normal Final Diagnosis: Acute Myeloid Leukemia with herpetic gingivo-stomatitis with hyperleukocytosis.
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Pediatric Case Diary
CASE-91
Presenting Complaints:
o Fever for 1 month. o Gum bleeding for 15 days. o Progressive pallor for same duration.
Case Summary:
XX, 10-year old girl, immunized, 3rd issue of her non-consanguineous parents, got admitted with the complaints of high grade, continued fever for 1 month which was not responding to oral antibiotics, bleeding manifestation in the form of skin bleeding (purpura and ecchymoses) and gum bleeding and gradual pallor,generalized weakness for the last 15 days prior to admission.There was no history of headache, convulsion, blurring of vision, vomiting, cough, respiratory distress, exposure to ionizing radiation and contact with known TB patient. For this illness, she was treated with several antibiotics and had H/O blood transfusion for 2 times in 1wk prior to admission. As her condition did not improve, she was referred to BSMMU. On examination, she was ill-looking, afebrile, moderately pale, gum hypertrophy and multiple purpuras, ecchymoses present all over the body. Vitals were within normal limits. Anthropometrically, she was well thriving. On abdominal examination, hepatomegaly present. Examination of other systems revealed no abnormality.
Provisional Diagnosis: Acute Leukemia most probably Acute Myeloid Leukemia.
Points in favor Features of BM failure- ▪ Anaemia (pallor despite getting blood transfusion) ▪ Infection (fever not responding to antibiotics). ▪ Bleeding manifestations (skin, gum bleeding) Features of infiltration- ▪ Gum hypertrophy present. ▪ Hepatomegaly present.
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Pediatric Case Diary
Differential Diagnosis: Acute Lymphoblastic Leukemia
Points in favor Points against Features of BM failure- ▪ Gum hypertrophy present. ▪ Anaemia (pallor despite getting ▪ No lymphadenopathy repetitive blood transfusion) ▪ Infection (prolonged fever not responding to antibiotics). ▪ Bleeding manifestations (skin, gum bleeding) Features of infiltration: Hepatomegaly For diagnosis of the disease: To see the complications: For management purpose: CBC with PBF S. Electrolytes SGPT Bone Marrow Study: S. Uric acid Cardiac function test (Echo, ECG) • Morphology S. Calcium Infectious disease • Immunophenotyping S. Inorganic Phosphate. • Cytogenetics screening (HBsAg) S. Creatinine Chest X ray Blood Grouping and Rh Coagulation typing CSF study Profile(PT,APTT)
Fibrinogen, D- dimer Investigations:
CBC Hb: 6.3 g/dl, TC WBC: 8.83 x 109 /cumm. DC : N-05%, L- 25%, M- 05% Atypical cell : 65% Platelet- 12,000/cum PBF - RBC- Normocytic Normochromic anemia. - WBC- Presence of large cells with high nuclear cytoplasmic ratio, granular cytoplasm, bilobed nucleus with prominent nucleoli resembling promyelocyte 65% - Platelet- Decreased Bone Marrow Hypercellular marrow with ↑ M:E ratio Examination Granulopoiesis : Active Erythropoiesis : Depressed Megakaryocytes : Scanty Promyelocyte : 50% Diagnosis: Acute Promyelocytic Leukemia (APML) Advice: Immunophenotyping and translocation (15;17)
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S. ALT 16 U/L S. Uric acid 2.6 mg/dl S. Calcium 9.0 mmol/l Chest X ray Normal S. Creatinine 0.45 mg/dl S. Electrolytes Sodium: 142 mmol/L Potassium: 4.3 mmolL Chloride: 104 mmol/L HBsAg Negative Coagulation profile Prothrombin Time: 16.00 Seconds INR=1.54 APTT: 45.20 seconds (Control 32.00 secs) Plasma fibrinogen level: 312.6 mg/dl FDP: 31.3mg/L (normal value upto 5 mg/l) D-Dimer: 4.40 microg/ml (normal value upto .5 microg/ml) Echocardiography Normal cardiac anatomy Good bi-ventricular function. EF- 71% Immunophenotyping Cd13+ : 20.18% Cd33+ :99.73%
Cd34+ : 11.18% HLA-DR+: 11.59% cMPO+ :87.49% Comment: Acute Myeloid Leukemia. Cytogenetics t(15:17) (PML RARἁ) – Positive
Fig: Presence of large cells with high nuclear cytoplasmic ratio, granular cytoplasm, bilobed nucleus with prominent nucleoli resembling promyelocyte 65%.
Final Diagnosis: Acute Promyelocytic leukemia, t (15; 17) positive.
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Pediatric Case Diary
CASE-92
Presenting Complaints:
o Low grade irregular fever associated with night sweat for 6 months. o H/O gradual distension of abdomen and gradual onset of pallor for last 2 months.
Case Summary:
XX, 6-year old female child, 3rd issue of non consanguineous parents, immunized as per EPI schedule hailing from Jessore got admitted on 4th February with the complaints of low grade irregular fever associated with night sweat for 6 months. She also had H/O gradual distension of abdomen and gradual onset of pallor for last 2 months. There was also H/O generalized weakness, loss of appetite and weight loss since onset of this illness. She had no H/O headache, vomiting, convulsion, unconsciousness, abdominal pain, bone pain, blood transfusion, exposure to radiation, gradual blackening of skin, contact with TB patient or traveling in Malaria endemic zone. On examination, she was ill looking but conscious, oriented, moderately pale, all the vital signs were within normal parameter, BCG mark was present, there was no jaundice or lymphadenopathy, liver was palpable 6 cm from right costal margin and spleen was palpable 15 cm from left costal margin, no evidence of ascites was present. Other systemic examinations revealed normal findings.
Provisional Diagnosis: Chronic Myeloid Leukemia
Differential Diagnosis: Kala-azar Points in favor for CML
From history- ➢ Low grade irregular fever for 6 months ➢ Night sweat. ➢ Gradual distension of abdomen ➢ Gradual pallor ➢ Anorexia and weight loss On examination- ➢ Moderate pallor ➢ Huge splenomegaly (15 cm) ➢ Hepatomegaly (6 cm)
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Pediatric Case Diary
Points in favor for Kala-azar Point against
From history: From history: - Fever for 6 months - Fever not typical for Kala azar - Gradual distension of abdomen - No H/O gradual blackening of skin - Gradual onset of pallor - Weight loss was associated with loss of appetite. - Weight loss - Low endemic area for Kala azar. On examination: - Living in semi-paka house, slept in bed. Height of - Moderate pallor the bed > 0.5 meter from floor and use mosquito- - Splenomegaly> Hepatomegaly net during sleeping.
Investigations: CBC Hb : 6.3 g/dl TC of WBC : 2.57 x10^12/L Platelet: 467 x 10^9/L PBF Normocytic, Normochromic. Band-20% Myeloblast-5% CXR Normal Bone marrow study Cellularity – hypercellular M: E ratio – increased Erythropoiesis- depressed Granulopoiesis- increased Megakaryocytes – present BM Differentials Eo and Baso series – Increased. Promyelocyte – 20% Myelocyte- 20% Metamyelocyte- 20%, Blast- 9% Sequential orderly maturation of myeloid series Dx- Chronic Myeloid Leukaemia BCR-ABL t(9:22) Positive for major BCR-ABL t (9: 22) translocation. translocation BCR-ABL: 54400 copies/resection, ABL- 311000 (By RT-PCR) copies/resection. Percent ratio: (BCR-ABL/ABL transcripts): 17.50%
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USG whole abdomen Mild hepatomegaly and gross splenomegaly S. LDH 2221 U/L (↑) S. Inorganic phosphate 4.4 mg/dl SGPT 16 U/L S. Creatinine 0.63 mg /dl S. Uric acid 3.9 mg/dl S. Calcium 9 mg/dl Serum Electrolytes Na: 136mmol/l K: 3.8 mmol/l Cl: 99 mmol/l RBS 4.4 mmol/l HBsAg Negative
Fig: Peripheral Blood Film
Final Diagnosis: Chronic Myeloid Leukemia (Chronic phase)
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Pediatric Case Diary
CASE-93
Presenting Complaints:
o Fever for 20 days. o Chest pain for 17 days. o Breathing difficulty for 7 days. Case Summary: XY, 8-year old boy, 1st issue of his non consanguineous parents, immunized, belonging to middle class family, hailing from Dinajpur, got admitted with the complaints of fever for 20 days which was low grade irregular in nature. He developed chest pain 2 days after fever and gradually developed chest discomfort with breathing difficulty for 7 days. He had no h/o cough, hemoptysis, contact with TB patient, blood transfusion, bleeding manifestation, headache, convulsion or unconsciousness. With these complaints, he was treated in several hospitals with anti-TB drugs, oral and injectable antibiotics and later on pleural fluid aspiration was done twice. But there was no improvement and was referred to BSMMU. On examination, he was dyspneic, had puffy face, was mildly pale, afebrile, neck veins were distended, hypoxic (SPO₂ 95% with 2L of O2), generalized lymphadenopathy were present. His anthropometry was normal. Systemic examination showed evidence of left sided massive pleural effusion with shifting of mediastinum, non tender hepatomegaly and splenomegaly present. Other system examinations revealed no abnormality.
Provisional Diagnosis: Non- Hodgkin Lymphoma with Superior mediastinal syndrome with left sided massive pleural effusion
Points in favor for Non- Hodgkin Lymphoma with Superior mediastinal syndrome with left sided massive pleural effusion Fever Breathing difficulty Not responding to anti-TB and antibiotics In short course – rapid deterioration On examination- Mildly pale, tachypnea, features of pleural effusion, swelling of face, lymphadenopathy, organomegaly present.
Differential Diagnosis:
- Acute Lymphoblastic Leukemia with superior mediastinal syndrome with left sided massive pleural effusion
- Disseminated Tuberculosis
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Pediatric Case Diary
Acute Lymphoblastic Leukemia with superior mediastinal syndrome with left sided massive pleural effusion
Points in favor Points against Fever No signs of bleeding Breathing difficulty manifestation Chest bulging No h/o blood transfusion Not responding to anti-TB and No bony tenderness antibiotics On examination- Pale, tachypnea, features of pleural effusion, swelling of face, lymphadenopathy, organomegaly.
Disseminated Tuberculosis
Points in favor Points against Fever No h/o contact with TB Respiratory distress patient. O/E- Features of pleural effusion No h/o weight loss Lymphadenopathy BCG mark present Hepatosplenomegaly present. Superior mediastinal syndrome less common in TB
Investigations:
CBC Hb%: 10.40 g/dl, TC WBC : 10.80 x10⁹/L DC : N -68% , L - 28 %, ESR: 80 mm in 1st hr. Platelet : 555 x10⁹/L PBF Normocytic normochromic anaemia CXR Dense homogenous opacity noted at left hemithorax obscuring left heart border and left dome of diaphragm, its medial border merged within the mediastinum. Air bronchogram noted at lateral aspect of hemithorax (possibly mediastinal mass). Pleural fluid study Microscopic examination: WBC (TC): 500/mm³ PMN: 95%, L- 05% RBC- Present (+) Biochemical Examination: Protein 3.45 g/dl Glucose 18 mg/dl
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Bacteriological findings: No microorganism found AFB: Not found Pleural fluid for malignant cell: Pleural fluid containing many mononuclear cells with high N/C ratio resembling lymphoblast Bone marrow study Uninvolved bone marrow Flowcytometry Flow cytometric analysis revealed a distinct population of Immunophenotyping atypical lymphoid cells of which 70% cells were CD3 positive that represents T- lymphocytes. CSF study Negative for malignant cell, CNS-1 S. LDH 2270 U/L (↑) S. Inorganic phosphate 3.8 mg/dl SGPT 22 U/L S. Creatinine 0.83 mg /dl S. Uric acid 3.9 mg/dl S. Calcium 8.8 mg/dl Serum Electrolytes Na: 136mmol/l, K: 4.0 mmol/l, Cl: 99 mmol/l Coagulation profile APTT: 28.3 sec, PT –12.6 sec, INR 1.01 RBS 4.5 mmol/l HBsAg Negative CT chest Anterior mediastinal mass lesion measuring about 8x5 cm mass effect and extending into the pleural cavity and left pleural nodular thickening.
Fig: CXR Fig: CT chest
Final Diagnosis: NHL (Lymphoblastic lymphoma stage III) with superior mediastinal syndrome
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Pediatric Case Diary
CASE-94
Presenting Complaints:
o Back pain for 1 month. o Gradual weakness of both lower limbs and unable to move for 20 days. o Urinary retention and fecal incontinence for 20 days.
Case Summary:
XY, 16-year old immunized boy, 3rd issue of non-consanguineous parents hailing from Gazipur was admitted with the complaints of back pain for 1 month which was on mid thoracic region, gradually increasing in severity. He also developed gradual weakness of both lower limbs and was unable to move. He had urinary retention and fecal incontinence too. He gave no history of trauma or swelling in the back, recent history of fever, headache, convulsion, cough, loose motion and contact with TB patient. For this illness, he was treated by local registered physicians with some medications, but his condition was deteriorating. So, he was referred to NINS, Dhaka, where some investigations and spinal surgery were done. On admission, he was ill looking, conscious, mildly pale, vital signs were within normal limits. Extensive bed sore was present. There was urinary catheter in situ. BCG mark was present. Anthropometrically, he was well thriving. On systemic examination, symmetrical flaccid type of paralysis was present. Other systemic examinations revealed normal findings.
Provisional Diagnosis: Pott’s Disease
Points in favor: Points against: - H/O back pain - No h/o fever, weight loss - Long duration - No h/o contact with TB patient - Paralysis - BCG mark present - Bowel and bladder involvement - No gibbus in back - Sensory dysfunction - Flaccid type of paralysis
Differential Diagnosis:
• Transverse myelitis • Spinal tumour.
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Pediatric Case Diary
Transvers myelitis
Points in favor: Points against: - H/O back pain - Insidious onset - Symmetrical paralysis - No h/o preceding viral infection - Bowel and bladder involvement - Flaccid type paralysis - Definite sensory level
Spinal tumour
Points in favor: - H/O back pain - Paralysis - Bowel and bladder involvement - Sensory dysfunction
Investigations: CBC Hb% :11.6 gm/dl ESR: 104 mm in 1st hr TC WBC: 6320/cu mm. Platelet:2,96,000/cu mm DC :N- 67.4% , L-24.8% PBF Normal Bone marrow study Normal, uninvolved bone marrow. MT Negative Gastric lavage for AFB Negative Serum LDH 2014 U/L (upto 400 U/L ) USG of whole abdomen Normal CXR Normal MRI of Spine Metastatic deposits/Chronic inflammatory condition. Biopsy Tissue from dorsal spinal SOL A small round cell neoplasm consisting of sheets of round cells having scanty cytoplasm and hypochromatic nuclei with presence of perivascular arrangement, mitosis and apoptotic body formation. Diagnosis: Malignant small round cell tumor suggestive of Non Hodgkin Lymphoma. Immunohistochemistry CD3: Atypical lymphocytes were negative. CD20: Atypical lymphocytes were positive.
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Pediatric Case Diary
PAX5: Atypical lymphocytes were positive. Ki67: About 70% cells were positive. CD99: Atypical lymphocytes were negative. Diagnosis: Diffuse Large B-cell Lymphoma. Serum Uric acid 5.1mg/dl Serum Inorganic phosphate 2.1mg/dl Serum Creatinine 0.54 mg/dl Serum ALT 14 U/L S.Ca2+ 10.9mg/dl PT, APTT Normal HBsAg Negative
Fig: MRI of Spine: Spinal lymphoma affecting D6 vertebral body along with enhancing soft tissue component at D6-D9 level causing compression on dorsal spinal cord resulting signal change in upper dorsal spinal cord. D/D: Metastatic deposits/Chronic inflammatory condition.
Final Diagnosis: Non Hodgkin lymphoma (Diffuse Large B-cell type, Bone involvement, stage-III) with spinal cord compression.
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Pediatric Case Diary
CASE-95
Presenting Complaints:
o Swelling on right side of neck for 8 months. o Weight loss, drenching night sweat, anorexia, low grade fever for same duration.
Case Summary:
XY, 4 year and 2 months old boy, hailing from Comilla, only issue of his non-consanguineous parents, completely immunized, presented with cervical lymphadenopathy of right side for 8 months, weight loss (16%), drenching night sweat, anorexia, low grade fever for same duration. There was no history of cough, respiratory distress, contact with TB patient, pruritus. He was treated with anti-tubercular drug for 6 months without improvement. On examination, he was playful, afebrile, vitals within normal limit, scar mark was present on right side of neck, cervical lymphadenopathy of right side, BCG mark present on left arm. Other systemic examinations revealed normal findings.
Fig: Cervical lymphadenopathy
Provisional Diagnosis: Hodgkin Disease
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Pediatric Case Diary
Points in favor for Hodgkin Disease Point against
1. Cervical lymphadenopathy, discrete, Age rubbery, non tender 2. Weight loss (16%) 3. Drenching night sweat. Differential Diagnosis: Drug resistant TB lymphadenitis
Points in favor for Drug resistant TB Points against lymphadenitis
1. Cervical lymphadenopathy 1. Good adherence to drug. 2. Weight loss 2. Significant systemic symptoms like 3. Night sweat weight loss, night sweat, fever. 4. Low grade fever 5. Took anti-TB drug for 6months. Investigations:
CBC Hb% : 9.3 gm/dl ESR : 60 mm in 1st hr TC WBC: 6,630/cumm. Platelet: 3,47,000 /cmm. DC : N- 50.4% , L-33.8%, M- 5.4%,E-10.4% PBF Normal Bone marrow study Normal uninvolved bone marrow. MT Negative Gastric lavage for AFB Negative Serum LDH 502 U/L USG of whole abdomen Normal CXR Normal Serum Ferritin 212ug/L Serum Creatinine 0.54 mg/dl Serum ALT 14 U/L Histopathology report of Section of lymph node revealed effacement of nodal lymph node architecture by polymorphous population of cellular infiltrate composed of lymphocytes, plasma cells, eosinophil, histiocytes, polymorphs. Few R-S cells present. Hodgkin lymphoma, mixed cellularity type. Immunophenotyping report: Not available
Final Diagnosis: Hodgkin Disease (mixed cellularity type, stage IB)
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Pediatric Case Diary
CASE-96
Presenting Complaint:
o Multiple nodular swellings at different sites of the body for last 4 months..
Case Summary:
XY, 12-year old boy, immunized as per EPI schedule, 3rd issue of his non-consanguineous parents, hailing from Gaibandha, got admitted with the complaints of multiple nodular swellings at different sites of the body, i.e. at cervical and inguinal region for last 4 months, which were gradually increasing in size. Mother also gave history of low grade irregular fever and weight loss for same duration which was not documented. He had no history of cough, respiratory distress, contact with TB patients, headache, convulsion, previous history of recurrent fever or infection. With these complaints, he was initially treated with some oral medications without significant improvement. And after doing some invasive investigations, he was referred to BSMMU for further evaluation.
On examination, he was ill looking, mildly pale, afebrile. He had generalized lymphadenopathy and hepatosplenomegaly. Vitals were within normal limit, bony tenderness absent. Anthropometrically, he was well thriving. Examination of other systems revealed no abnormality.
Fig: Cervical lymphadenopathy
Provisional Diagnosis: Non Hodgkin Lymphoma (Stage III or above) Differential Diagnosis: Disseminated TB Hodgkin lymphoma
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Pediatric Case Diary
Points in favor for Non Hodgkin Lymphoma From history- ➢ Short history ➢ H/O nodular swelling at multiple sites. ➢ Fever ➢ Weight loss On examination- ➢ Generalized lymphadenopathy (non contiguous) ➢ Hepatosplenomegaly Disseminated TB
Points in favor Point against
▪ Fever > 3 weeks ▪ Vaccinated (BCG mark present) ▪ Weight loss ▪ No contact with known TB patients ▪ Generalized lymphadenopathy ▪ Physical finding of lymph nodes not ▪ Hepatosplenomegaly present consistent with TB (matted and having discharging sinus). Hodgkin Lymphoma Points in favor Point against
▪ Fever > 3 weeks ▪ Swelling were non contiguous ▪ Weight loss ▪ Physical findings of lymph nodes not ▪ Generalized lymphadenopathy consistent with Hodgkin lymphoma ▪ Hepatosplenomegaly present (rubbery)
Plan of Investigations: For Diagnosis To see extension To exclude To see For management of disease differential complication: purpose:
Excisional Biopsy CSF study MT, CXR S. Calcium Coagulation profile and Chest X-ray S. Inorganic S.LDH Histopathology and Bone marrow phosphate Blood grouping and study Rh typing Immunohistoche S. Uric acid mistry Echocardiography S. Electrolytes CBC with PBF S. Creatinine
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Investigations:
CBC Hb : 10.5 g/dl, ESR : 65mm in 1st hr TC WBC-7,021/cmm, N- 67.9%, L-23.9% Platelet : 3,51,000/cmm PBF Microcytic hypochromic anemia.
MT test Negative(6mm) S. LDH 880 U/L S. creatinine 0.73 mg/dl S. ALT 46 U/L S. Calcium 9.3 mg/dL RBS 5.4 mmol/L HBsAg Negative S. Electrolytes Normal
Chest X-ray P/A view Normal Excisional biopsy And Effacement of nodal architecture by monotonous Histopathology population of atypical lymphoid cells. The lymphoid cells had infiltrated the perinodal soft tissue. Dx: Non Hodgkin Lymphoma, intermediate grade (?). Reevaluation: Loss of nodal architecture by diffuse population of lymphoid cells. These cells had large vesicular nuclei with nucleoli and moderate amount of cytoplasm. Scattered histiocytes and apoptotic bodies were also present. Comment: Diffuse non –Hodgkin lymphoma, High grade. Bone Marrow Study Normal, Uninvolved Bone marrow CSF Study for malignant cell Negative for malignant cell CNS-1 Immunohistochemistry - CD3: Positive in 80% cells - CD20: A few cells are positive - CD79 alpha: A few cells are positive - CD10: Negative - TdT: Positive in few cells (1.2%), Ki67: High (80%) Comment: Precursor T lymphoblastic lymphoma Final Diagnosis: Non- Hodgkin Lymphoma (T lymphoblastic lymphoma, stage III)
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Pediatric Case Diary
CASE-97
Presenting Complaints:
o Fever for 1 month. o Progressive pallor and easy fatigability for same duration.
Case Summary:
XY, 13-year old boy, 9th issue of non-consanguineous parents, hailing from Kishorganj, got admitted with the complaints of fever for 1 month, which was initially low grade, then became high grade, continued in nature, not associated with chills and rigor, highest recorded temperature was 102o F. He also developed pallor which was progressive in nature associated with anorexia, generalized weakness and easy fatigability for one month. He also developed multiple blackish spots in different parts of the body and gum bleeding for last 20 days and epistaxis for 2 times. He had no history of headache, convulsion, cough, jaundice, blurring of vision, recent vaccination, exposure to radiation and contact with TB patient, taking any offending drugs, vesicular skin lesions but he had exposure to insecticides. He also had H/O blood transfusion for 2 times. On general examination, he was ill looking, severely pale, non icteric, febrile (Temp: 100o F), pulse-90 b/m, BP-100/60 mm Hg, R/R- 20br/min, bony tenderness absent. On hematopoietic system examination, multiple purpura and ecchymoses present in both upper and lower limbs, didn’t blanch on pressure. Bleeding spots on gums present. There was no lymphadenopathy, hepatomegaly or splenomegaly, chloroma or gum hypertrophy. Other systemic examinations revealed normal findings.
Provisional Diagnosis: Aplastic Anemia
Points in favor for Aplastic Anemia
Features of pancytopenia: - Pallor – severely pale. - Infection – fever. - Bleeding manifestation – petechiae, purpura, ecchymoses, gum bleeding With absence of features of infiltration: - No hepatomegaly - No splenomegaly - No lymphadenopathy - No bony tenderness
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Differential Diagnosis: Acute Leukemia
Points in favor Points against
• Progressive pallor for 1 month • No hepatomegaly • Fever for 1 month • No splenomegaly • Bleeding manifestation • No lymphadenopathy • Severely pale • No bony tenderness
Investigations:
CBC Hb%: 4.6 g/dl RBC: 1.21 million/cmm TC WBC: 3200/cmm, DC: N- 03%, L- 90%; Platelet: 4,200/cmm PBF Pancytopenia, no atypical cells. PT, INR, APTT Normal Blood grouping B(+ve) Reticulocyte count 2.1% S. Electrolytes Normal S.ALT S. Uric acid S. Calcium S. Creatinine HBsAg Negative Bone Marrow study - Hypocellular bone marrow - M:E- decreased - Erythropoiesis-depressed - Granulopoiesis-depressed - Megakaryocytes- scanty Diagnosis – bone marrow hypoplasia X-ray chest (P/A view) Normal
Final Diagnosis: Very Severe Aplastic Anaemia
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CASE-98
Presenting Complaints:
o Jaundice for 12 days. o Sudden onset of pallor and high colored urine for 10 days.
Case Summary:
XY, 14-year old boy, 1st issue of non consanguineous parents, immunized, got admitted with the complaints of jaundice for 12 days, sudden onset of pallor and high colored urine for 10 days. He had H/O anorexia, nausea and malaise for same duration. He had a history of febrile episode just prior to this illness. He had no H/O abdominal pain, pruritus, skin rash, family history of gallstones or taking any offending drugs and none of his family members suffered from this sort of illness. He was diagnosed as Autoimmune hepatitis 2 years back and was treated with Azathioprine and low dose steroid. Being treated for 1 year, subsequently he was treated by high dose Prednisolone and Folic acid for last 1 year. Prednisolone was stopped just foregoing of this illness. On examination- he was fretful, severely pale, moderately icteric, afebrile. Anthropometrically, he was well thriving, vitals within normal limit except tachycardia and tachypnea present. Abdomen was distended, hepatosplenomegaly present. Ascites absent. There were no stigmata of CLD.
Fig: Our case (Icteric) Fig: Pallor Provisional Diagnosis: Hemolytic anemia (Auto immune hemolytic anemia)
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Pediatric Case Diary
Differential Diagnosis: Autoimmune Hepatitis Glucose 6 phosphate dehydrogenase deficiency
Points in favor for Auto immune Hemolytic Anemia
Sudden onset of pallor
Yellow discoloration of whole body
High colored urine
O/E:
• Severe pallor • Moderate icterus • Hepatosplenomegaly Differential Diagnosis:
Auto immune Hepatitis Points in favor Points against Anorexia, nausea, malaise No abdominal pain Jaundice No Pruritus Hepatosplenomegaly No Features of concurrent Was diagnosed as autoimmune immune disease hepatitis No ascites No encephalopathy No stigmata of CLD G6PD Deficiency: Points in favor: Points against: - Male child No family history - Sudden onset of pallor No history of neonatal - Yellow discoloration of whole body jaundice • High colored urine • O/E: severe pallor, moderate icterus, hepatosplenomegaly.
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Investigations:
Investigations done 2 years back: Investigations after admission
CBC: Hb-5.6gm/dl CBC-Hb-5.6gm/dl TC-7600/cmm TC-21,170/cmm PLT-270000/cmm N-95% PBF: Features of hemolysis. Microcytic PLT-189000 hypochromic anemia. MCV-126fL Hb electrophoresis: Normal MCH-38pg S. Bilirubin:5mg/dl MCHC-30g/dl S.ALT:125U/L Reticulocyte count:2.7% PT: 12sec PBF: Anisocytosis with many Coomb’s test: Positive (indirect and polychromatic cells, some direct) schistocytes, nRBC, tear drop HBsAg-Negative cells. Anti HCV-Negative S. IgG- Increased ANA-Negative Anti ds DNA-Negative Anti LKM1-Negative Anti smooth muscle antibody-Negative S. Ceruloplasmin -33mg/dl Urinary copper-86μg/day Liver Biopsy: Chronic Hepatitis with bridging fibrosis in periportal area.
Others:
Coomb’s test-Direct positive
S. Bilirubin-Total- 7.6mg/dl, Direct- 0.9mg/dl, Indirect- 6.7mg/dl
S. SGPT: 50U/l
S. SGOT: 55U/l
Prothrombin time: 13 second; INR 1.08
S. albumin: 42gm/L
Fasting blood sugar: 5.2mmol/l, 2hours after breakfast: 7.6mmol/l
Final Diagnosis: Autoimmune hepatitis with Autoimmune hemolytic anemia
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Pediatric Case Diary
CASE-99 Presenting complaint:
o Gradual pallor since 3 months of age.
Case Summary:
XX, 7-month old girl, 2nd issue of consanguineous parents hailing from Pabna, on EPI immunization schedule, got admitted with the complaints of gradual pallor since 3 months of her age. She had no h/o fever, bleeding, rash, jaundice, passage of dark colour urine or taking any offending drugs and feeding mismanagement. For this illness, she was admitted in a tertiary care hospital 2 times within last 4 months and was treated with blood transfusion, oral folic acid and steroid (for last 1 month) but her condition did not improve so she was admitted in BSMMU for further evaluation and management. None of her family members had same type of illness.
O/E she was severely pale, anicteric, no lymphadenopathy, no bony tenderness, no petechiae or purpura, Temp- 990F, HR-150/min, RR-36/min, hepatosplenomegaly present. Other systemic examinations revealed no abnormality.
Provisional Diagnosis: Congenital hemolytic anemia (Thalassemia)
Differential Diagnosis: Auto immune hemolytic Anemia
Hereditary spherocytosis
Points in favor for Congenital hemolytic anemia (Thalassemia) o Consanguinity o Progressive pallor o H/O blood transfusion o Severely pale o Hepatosplenomegaly
Points in favor for Auto immune hemolytic Point against Anemia Progressive pallor No H/o passage of dark colour Not responding to blood transfusion urine Severely pale Not icteric Splenomegaly present
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Pediatric Case Diary
Points in favor for Hereditary spherocytosis Point against
Pallor No positive family history Splenomegaly No history of Neonatal jaundice
Investigations:
Inv. Plan Expected findings Patient’s findings CBC with PBF Hb: low Hb%: 6 g/dl TC WBC: low Total count: 13500/ cumm Plt: low N - 26%, L -69 %, M-4% Platelet: 2,50,000 /cumm RBC: 2million/cumm MCV-78fl MCH-30.3 pg MCHC-34.84g/dl RDW-38.8% PBF: features of hemolysis RBC-mild anisochromic and (nucleated red cells) anisocytic few target cells, frequent NRBC and schistocytes WBC-mature with above distribution, Platelet- normal Comment-normochromic normocytic anemia possibly due to acquired hemolytic anemia Reticulocyte count Increase 2.40% Osmotic fragility test Osmotic fragility test: Osmotic fragility test: S. LDH decreased. Haemolysis started at- G6PD level 0.55%NaCL sol. Haemolysis Coomb’s test completed at-0.20% NaCL sol. Hb Electrophoresis Comment- decreased osmotic fragility Coombs test-negative Blood G6PDH-7.2u/g Hb (6.97-20.5u/g Hb) S.LDH-1358u/l Hb Electrophoresis: at 5 month of age- Hb A -88.6%, Hb F -8.9% (2.3-22.4), Hb A2 -2.5% Comment –Normal electrophoretic pattern of Hb.
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Pediatric Case Diary
Bone Marrow study - Cellularity: Hypercellular - Myeloid Erythroid ratio: Decreased -Erythropoiesis: Normal and active -Granulopoiesis: Active and orderly - Megakaryocytes: Present Comment: Erythroid hyperplasia X-ray chest (P/A view) Normal Normal
Fig: Normocytic normochromic anemia, few nucleated RBC and few fragmented cells
Others:
S. Billurubin: T- 11.9µmol/l ; I- 0.64µmol/l
S. ALT-20 u/l
S. Creatinine-.44mg/dl
Urine for Hb-Nil
Final Diagnosis: Auto immune hemolytic anemia
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Pediatric Case Diary
CASE-100
Presenting Complaints: o Recurrent pallor since 2 years of age. o Walking difficulty for 3 months. o Unable to stand and walk for 4 days.
Case Summary:
XY, 13-year old boy, 4th issue of consanguineous parents, completely immunized, got admitted with the complaints of recurrent pallor associated with weakness, anorexia soreness in mouth and tongue since 2 years of age which temporarily improved by blood transfusion and medications. During last 3 months, he developed progressive pallor requiring monthly blood transfusions. At the same time, he also developed progressive weakness of both upper and lower limbs followed by frequent fall and walking difficulty which was associated with numbness of hands and feet. He became unable to stand 4 days prior to this admission. He had no suggestive history of tuberculosis; any bleeding; chronic liver disease/diarrhea; intracranial lesion, taking any offending drugs, any trauma/surgery, autoimmune disease. On examination, he was apathetic, lethargic, severely pale, edematous, well thriving, normotensive child. Skin survey showed hyperpigmentation over knuckle of both hands. He had tachycardia, tachypnea, angular stomatitis and glossitis with smooth raw beefy tongue. There was proteinuria, tender hepatomegaly. Features of spastic paraplegia present which were progressive and symmetrical.
Fig: Apathetic, lethargic Fig: Hyperpigmentation over Fig: Raw beefy tongue knuckle of both hands
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Pediatric Case Diary
Provisional Diagnosis: Megaloblastic anaemia with impending heart failure with Sub-acute Combined Degeneration of Spinal Cord
Points in favor for Megaloblastic anaemia Points against • Recurrent pallor. - Well thriving. • Generalized weakness. - No developmental delay. • Improved with blood transfusion and injectable medication. • Consanguineous parents (congenital variety. • H/O sib death. • Severe pallor. • Smooth red beefy tongue. • Angular stomatitis, glossitis Points in favor for Impending Heart Failure • Severe pallor. • Tachycardia. • Tachypnea • Leg edema. • Tender hepatomegaly. Points in favor for Sub-acute Combined Degeneration of Spinal Cord Features of spastic paraplegia Progressive weakness of limbs with numbness Hypertonia Diminished power in all limbs Hyperreflexia with clonus present. Plantar bilaterally extensor Impaired joint position and vibration senses Impaired two points discrimination. Differential Diagnoses: Hereditary hemolytic anaemia
Points in favor Points against • Recurrent pallor. • No features of hemolytic episode • Anemic heart failure. (Thalassemic facies, icteric, dark • Response to blood transfusion. urine) • No H/O gall stone, splenomegaly/splenectomy. • Features of neuropathy. • Proteinuria
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Pediatric Case Diary
Beriberi
Points in favor Points against • Features of heart failure • Recurrent pallor. (Wet beriberi) • Proteinuria • Features of neuropathy (Dry beriberi)
Plan of Investigations: For Diagnosis: - CBC with PBF - Reticulocyte count - S. Vit B12 - S. Folic acid
- Bone marrow study - MRI of Brain and spinal cord To exclude Differential diagnosis: - Serum Iron - Serum Ferritin - Coomb’s test - Hemoglobin electrophoresis - Urinary thiamine level For management purpose: - S. Electrolytes - S. Creatinine
Investigations:
CBC Hb%: 4.8 gm/dl RBC: 1.47 x 1012 /L TC WBC: 3.75 x 109 /L Platelet: 86,000/cmm. DC : N- 28% , L-69%, MCV(fl) - 108.8 MCH(pg) - 30.6 MCHC( gm/dl)- 30 RDW% - 17 PBF Macrocytic anaemia with neutropenia with thrombocytopenia.
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Pediatric Case Diary
Iron profile Serum Iron: 51 micro gm/dl Serum Ferritin: 1194 ng/dl Serum LDH 2542 U/L Reticulocyte count 0.55% Hemoglobin electrophoresis Normal Coomb’s test Direct: Negative Indirect: Negative Serum bilirubin Total: 1.1 mg/dl, Direct: 0.17 m/dl S. Vit B12 <83 pg/ml (↓) Serum Folic Acid 18.3 ng/ml Serum electrolytes Normal 24 hrs UTP 0.95 gm/day S. Createnine 0.67 mg/dl S. Albumin 38 gm/L S. Cholesterol 181 mg/dl Stool R/E Normal Bone marrow study Hypercellular Ophthalmoscopic examination No optic atrophy
Fig A: Macrocytosis, ovalo-macrocytes. Fig B: Neutropenia, hypersegmented neutrophils tear drop cells.
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Pediatric Case Diary
Fig 1. Fig 2. Fig 3.
Fig1: Erythroid series-Active, erythroid hyperplasia, Megaloblastic, Multi-nucleated cells. Fig 2: Active, Giant metamyelocytes. Fig 3: Megakaryocytes -Multilobed
Fig: MRI of Brain with contrast Fig: MRI of Brain Spinal cord
Final Diagnosis: Megaloblastic anaemia due to vit B12 deficiency with impending heart failure with Sub-acute Combined Degeneration of Spinal Cord
297
Pediatric Case Diary
CASE-101
Presenting Complaints:
o Multiple blackish spot over different sites of the body for last 10 months. o Single episode of scanty amount of nose and gum bleeding 2 days back.
Case Summary:
XY, 4 ½ year old boy, 3rd issue of non consanguineous parents hailing from Barishal, got admitted with the complaints of multiple blackish spot over different sites of the body for last 10 months and single episode of scanty amount of nose and gum bleeding 2 days back. He was treated with oral Prednisolone and some other drugs for last 1 month but his condition did not improve. He had no history of fever, gradual pallor, jaundice, headache, bleeding from any other sites of the body or blood transfusion. On examination, he was well alert, mildly pale, anicteric, afebrile, normotensive. There were multiple petechiae, purpura and ecchymoses present all over the body. There was no bony tenderness or organomegaly. Other system examinations revealed no abnormality.
Fig: Ecchymoses Fig: Petechiae and purpura Provisional Diagnosis: Immune Thrombocytopenic Purpura
Points in favor for Immune Thrombocytopenic Purpura • Age • Features of bleeding manifestations • No organomegaly
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Pediatric Case Diary
Differential Diagnoses: Aplastic Anaemia
Haemophilia
Points in favor for Aplastic Anaemia Points against - Features of bleeding manifestations. - No H/O blood transfusion. - No organomegaly. - No H/O fever. - Mildly pale.
Points in favor for Haemophilia Points against - Male patient. - No family history of similar type of disease. - Bleeding from gum and nose. - No signs of haemarthrosis. - Not responding to steroids. - No history of prolonged bleeding after minor trauma before this current illness Investigations:
CBC Hb: 10.4 gm/dl, TL WBC: 10,510/cumm Platelet: <10,000/cmm N- 55.1%, L-36.9% PBF Isolated Thrombocytopenia Coagulation profile BT: 15 mins, CT: 7 mins PT:12 second, INR: 1, APTT: 28 Bone Marrow Study Cellularity: Normocellular Myeloid and Erythroid ratio: Normal Erythropoiesis: Normal and active Granulopoiesis: Active and orderly Megakaryocytes: Excess Diagnosis: Considering peripheral thrombocytopenia marrow finding in consistent with Immune Thrombocytopenic Purpura. ANA Negative SGPT 17 U/L S. Creatinine 0.48 mg/dl Urine RME Normal
Final Diagnosis: Immune Thrombocytopenic Purpura.
299
Pediatric Case Diary
CASE-102
Presenting Complaint:
o Painless upper abdominal mass for 1 month.
Case Summary:
XX, 10-year old girl, 4th issue of non consanguineous parents of poor socioeconomic background, completely immunized, hailing from Barisal was admitted in BSMMU with the complaints of painless upper abdominal mass for 1 month. There was no h/o fever, jaundice, hematemesis, melena, blood transfusion, convulsion and unexplained vomiting during infancy or low birth weight. Her father had jaundice 1½ year before her birth. On examination, she was well alert, mildly pale, anicteric, afebrile, no lymphadenopathy, vitals within normal limit. On Anthropometry, her weight was 30 kg (between 25th to 50th percentile), height was 140 cm (on 25th percentile). Systemic examination showed non distended abdomen, liver was enlarged 7 cm from right costal margin, surface irregular, consistency hard, non tender, upper border of liver dullness in right 5th intercostal space. Spleen was enlarged 6 cm from left costal margin along its long axis, ascites absent. Other system examinations revealed no abnormality.
Provisional Diagnosis: Primary Liver Tumor (probably Hepatocellular Carcinoma)
Points in favor Points against Age 10 years. Splenomegaly present Hard mass in right upper abdomen. On palpation: liver enlarged, surface is irregular, consistency hard.
Differential Diagnosis:
• Secondary liver tumor • Chronic myeloid leukemia
Secondary liver tumor
Points in favor Point against
Liver enlarged, surface irregular, hard No identifiable site of primary consistency. malignancy.
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Pediatric Case Diary
Chronic myeloid leukemia
Points in favor Point against
- Age 10 years. - Huge hepatomegaly. - Hepatosplenomegaly - Liver was hard, surface irregular. - Otherwise well child.
Investigations:
CBC Hb% : 10.6 g/dl TC of WBC : 12,720 /cumm N % : 70% PLT :10,62,000/ cumm S. Bilirubin 0.9mg/dl SGPT 58U/L S. Creatinine 0.63mg/dl S. Calcium 8.5mg/dl S. LDH 250 U/L S. Albumin 37 gm/L. Coagulation profile PT : 13 sec; APTT : 31 sec (control 28 sec) S. Electrolytes Normal Alfa fetoprotein >20000 ng/ml. HBeAg Positive Hepatitis B virus DNA Detected 238000 U/L. Parental HBsAg was done. Both the parents suffered from Hepatitis B virus infection. The child may be infected by vertical transmission USG of Whole Abdomen Liver enlarged in size (15.5 cm), coarse and heterogeneous in echotexture. A large lobulated echogenic area measuring about 12.5 cm x 10.5 cm in right lobe of liver. A mixed echogenic area measuring about 5.7 cm x 5 cm seen in right lobe of liver. Cavernous transformation of portal vein was noted. Spleen enlarged in size (12cm), hilar vessels were prominent. Mild ascites present. Comment: Suggestive of HCC on the background of CLD.
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CT scan of abdomen: Hepatic SOL possibly Hepatoblastoma. Splenomegaly. Minimal ascites.
Histopathology: Two of the focus of core biopsy of liver tissue showed hepatocellular carcinoma composed of atypical hepatocytes with prominent nucleoli and nuclear inclusion arranged in trabecular pattern. The rest of the tissue showed features of chronic hepatitis. Diagnosis: Hepatocellular carcinoma.
Final Diagnosis: Hepatocellular Carcinoma on the background of chronic liver disease due to chronic Hepatitis B
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Pediatric Case Diary
CASE-103
Presenting Complaint:
o Painful swelling on left side of the head for 3 months.
Case Summary: XX, 4-year old girl got admitted with the complaint of gradually increasing hard painful swelling on the left side of the head for 3 months. For this, she had excision and biopsy. There was no H/O trauma, fever, headache, vomiting, convulsion, unconsciousness, polyuria, polydipsia, visual disturbance, excessive sweating or any abdominal complaints. On examination, her vitals were within normal limits. She was severely wasted and stunted. There was a crescentic healed scar from left temporal region, behind the left ear to upper part of face. Surrounding lymph nodes were not palpable and there was lower motor type left sided 7th nerve palsy but other nerves and systemic examination was normal.
Provisional Diagnosis: Rhabdomyosarcoma with left sided 7th nerve (LMN) palsy with SAM
Differential Diagnosis: Neuroblastoma-(Stage 4)
Rhabdomyosarcoma with left sided 7th nerve (LMN) palsy
Points in favor Points against Hard painful swelling. History of enlargement over 7 months. Facial deviation with clinical evidence of 7th nerve palsy. Severely wasted and moderately stunted. Neuroblastoma-(Stage 4)
Points in favor Point against
• Swelling over the scalp • Active • Age • No other features of Neuroblastoma
Investigations:
CBC Hb: 12.7 gm/dl TC of WBC: 12.38 x 10×9/l N- 43.5%, L- 52.1% PLT : 5,00,000 /cmm Bone marrow aspiration report Uninvolved Bone Marrow. USG of W/A Normal study S. Creatinine 0.67mg/dl
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S. ALT 23 U/L Coagulation profile APTT : 37.2 sec,PT : 13.2 sec, INR-1.10 Urine specific gravity 0.1010 Chest X-ray Normal
Fig: CT sacn- A soft tissue mass in left temporal fossa, causing destruction of the left temporal bone and extension into left temporal region –likely to be secondary
Histopathology report: Tissue from left temporal region
It revealed many histiocytes, eosinophils and moderate number of lymphocytes. The histiocytes had vesicular nuclei and some showed nuclear grooves.
Suggestive of Langerhans cell histiocytosis
Plan: Immunohistochemistry and Bone Scan
Presumptive Diagnosis: Langerhans cell histiocytosis
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CASE-104
Presenting Complaints:
o Nodular swelling on left lower chest for 9 months. o Cough and breathing difficulty along with fever for 1 month.
Case Summary:
XX, 3 year 2 months old girl, only issue of her non consanguineous parents, hailing from Dhaka, was admitted in BSMMU with the complaints of nodular swelling on left lower chest for 9 months, initially small, painless and fixed to the chest, but became progressively larger with mild localized chest pain. For last 1 month, she developed cough and breathing difficulty along with fever. She had no history of swelling of any other parts of the body, trauma, weight loss, progressive pallor, bleeding manifestation, skin discoloration, headache, convulsion, contact with any TB patient, taking any offending drugs, exposure to excessive radiation. For these complaints, she was admitted in Dhaka Community Based Hospital and treated with injectable antibiotics for cough and respiratory distress and FNAC was also done from the swelling. Then she was referred to NICRH where they were advised to do biopsy and histopathology of the swelling. An incisional biopsy was done from mass under G/A at DMCH and was then referred to BSMMU for further evaluation and management. On examination, she was ill- looking, fretful but co-operative, moderately pale, afebrile, dyspneic, R/R- 36 breaths/min, pulse- 120b/min, BP-90/60 mmHg. Anthropometrically, well thriving, lymphadenopathy and bony tenderness absent. Skin survey revealed a bandage mark on biopsy site on left lower chest. Respiratory system examination revealed tachypnea with features suggestive of left lower sided pleural effusion. She had no organomegaly and all other system examinations revealed normal findings.
Provisional Diagnosis: Ewing Sarcoma of lower left chest wall with left sided Pleural Effusion.
Differential Diagnosis:
• Non Hodgkins Lymphoma with left sided pleural effusion.
Bone Tuberculosis of lower chest wall with left sided pleural effusion.
Points in favor for Ewing Sarcoma Left sided fixed painless swelling on left lower chest for 9 months. Young age. Later involvement of lungs and pleura for 1 month.
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For Non Hodgkin Lymphoma
Points in favor Point against ✓ Left sided fixed painless swelling on ✓ Long duration left lower chest for 9 months. ✓ Unusual site at presentation ✓ Young age. ✓ Later involvement of lungs and pleura.
Bone Tuberculosis
Points in favor Point against ✓ Left sided nodular swelling on lower ✓ Lung and pleural involvement 8 left chest for 9 months. months after appearance of ✓ Features of pleural effusion. swelling. ✓ Unusual age for bone TB. ✓ No H/O low grade fever, evening rise of temperature or weight loss. ✓ No H/O contact with tubercular patient. Investigations:
CBC Hb- 7.9 g/dl ESR - 34 mm in 1st hr. Total Count of WBC-13,760 /cmm Neutrophils- 60%, Lymphocyte- 31% Platelet-5,95,000 /cmm PBF RBC: Microcytic hypochromic anemia with few poikilocytosis WBC: Normal, no atypical cells present. Platelet: Increased S. LDH 641 U/L
S. ALT 21 U/L S. Ferritin 145 ng/dl
S. Uric acid 3.9 mg/dl
S. Inorganic Phosphate 2 mg/dl S. Calcium 9.4 mg/dl
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S. Creatinine 50 µmol/l
S. Electrolytes Normal
Tuberculin Test Negative (5 mm in diameter)
Pleural Fluid Analysis Amount: 10 cc Colour: Haemorrhagic. Total Cell Count: 120/cumm Lymphocyte: 90% Histiocyte: 6% Mesothelial cell: 4% Comments: No malignant cell was seen. The fluid was exudative in nature and was compatible with tubercular effusion. Bone Marrow Examination No abnormality detected.
Chest X Ray (30/9/17) Chest X Ray (3/1/18) Chest X Ray (23/1/18)
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Fig: Spiral CT scan of Chest- Suggestive of round cell tumour at left lower chest wall with intra thoracic extension causing irregular destruction of anterior aspect of 10th rib. Left sided huge pleural effusion with passive atelectasis.
Incisional biopsy followed by Histopathology of Chest wall tissue: Suggestive of small round cell tumour favouring Ewing Sarcoma.
Advice: CD 99 immunostaining recommended for confirmation.
Final Diagnosis: Left sided chest wall Ewing Sarcoma with Pulmonary involvement (Pleural Effusion).
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Pediatric Case Diary
CASE-105
Presenting Complaints:
o Polyphagia, excess weight gain, and abdominal distension for 2 months. o Excess growth of body hair including appearance of pubic hair for 1 month.
Case Summary: XY, 4-yr old immunized boy, only issue of non consanguineous parents hailing from Satkhira got admitted with the complaints of polyphagia, excess weight gain and abdominal distension for 2 months. Mother also noticed excess growth of body hair including appearance of pubic hair for 1 month. Mother gave no history of fever, contact with TB patient, headache, convulsion, respiratory distress, vomiting, dehydration, abdominal pain, taking any offending drugs. On examination, he was cooperative having moon face with hypertrichosis and hirsutism. He was afebrile, pulse-80bpm, R/R-16 breaths/min, hypertensive. Anthropometry showed he was obese. Systemic examination revealed a large mass in the right side of the abdomen occupying right lumbar, right hypochondriac, epigastric and part of umbilical region measuring about (20x15x10 cm) that crossed the midline, round to oval in shape, non tender, firm to hard in consistency, surface was irregular, did not move with respiration. Genitalia-male pattern, there was sparse pigmented, long, straight pubic hair at the base of penis and enlargement of penis (6cm) was also present-Tanner stage II. Other systemic examinations revealed nothing abnormality.
Fig: Moon face with hypertrichosis Fig: Hypertrichosis Fig: Pubic hair, enlarged penis
Provisional Diagnosis: Adrenocortical tumour Differential Diagnosis: Pheochromocytoma Pituitary tumour
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Pediatric Case Diary
Neuroblastoma Points in favor for Adrenocortical tumour 1. Age 4 yrs 2. Features of hypercortisolism- polyphagia, obesity, hypertrichosis etc. 3. Features of excess androgen-virilisation 4. Abdominal mass Pheochromocytoma Points in favor Points against 1. Age <5 yrs. 1. Features of hypercortisolism-polyphagia, 2. Hypertensive obesity, hypertrichosis etc. 3. Abdominal mass crossing 2. Features of excess androgen-virilisation the midline. 3. Nervous system –normal findings
Pituitary tumour
Points in favor Points against 1. Features of 1. Abdominal mass hypercortisolism- 2. No history of headache, vomiting, blurring of polyphagia, obesity, vision hypertrichosis 3. Nervous system examination-normal 2. Features of excess findings. androgen-virilisation 3. Hypertensive Neuroblastoma
Points in favor Points against 1. Age <5 yrs. 1. Features of hypercortisolism-polyphagia, 2. Hypertensive obesity, hypertrichosis etc. 3. Abdominal mass crossing 2. Features of excess androgen-virilisation. the midline. 3. Nervous system –normal findings. Investigations:
CBC Hb: 12.3g/dl, TC: 10,000/cmm, N: 88%, L: 09%, PLT: 3,85,000/cmm PBF Normocytic Normochromic anemia DHEA-S ˃1500.00 µg/dL Estradiol 10.00 pg/ml Testosterone 9.33 nmol/L
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Pediatric Case Diary
ACTH 18.10 pg/ml Basal Cortisol 1102 nmol/l Aldosterone 56.10 pg/ml TSH level 2.61 uIU/ml S. LDH 1022 U/lt S. Ferritin 9.97 microgm/l 24 hrs urinary VMA 2.83 mg/day(15mg/day) Serum Urea 0.58 mg/dl S. Uric Acid 11mg/dl S. Calcium 9mg/dl Echocardiography Normal X-ray chest (P/A view) Normal USG of Abdomen In upper abdominal cavity lateral to liver, presence of multiple solid homogeneous masses, some echogenic, others hypoechoic, all of them had separate definite smooth capsule. The masses were adjacent to one another near upper pole of right kidney compressing it and separated from liver. Those were retroperitoneal masses. Impression: Right adrenal mass. CT scan of abdomen A fairly large almost roundish heterogeneously enhancing soft tissue density area measuring about (92.4×10.6×15cm) was seen in right upper abdomen inseparable from right adrenal gland compressing and displacing right kidney. Superiorly lesion extended upto the right subphrenic area displacing the liver anteriorly with loss of interface in between them. Similar characteristic lobulated lesion approximately (4.9×4.3×4.2cm) was seen at periportal region. Comment: Right suprarenal neuroblastoma with periportal lymphadenopathy
Final Diagnosis: Adrenocortical tumour
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Pediatric Case Diary
CASE-106
Presenting Complaints:
o Repeated episodes of seizure since 4 months of age. o Neck control still not achieved. Case Summary:
XX, 8½ month old infant girl, only issue of non consanguineous parents, hailing from Faridpur got admitted in BSMMU with the complaints of repeated generalized tonic convulsions in the forms of extension of all limbs, rolling of eyes and occasional jerky movements since 4 months of age. Convulsion occurred 10 to 15 times a day, persisted for few seconds to minutes followed by post ictal drowsiness for 1 to 10 minutes. She still didn’t achieve neck control and other milestones were also delayed. She had h/o PNA with HIE II. She had no h/o fever, rash, offensive body or urine odour, repeated vomiting or no h/o trauma. On examination, she was irritable, mildly pale, anicteric, vitals were within normal limit, anthropometry revealed severe underweight with stunted with microcephaly. Developmental assessment showed gross motor function corresponding to 3 months of age, fine motor at 2 months, vision, hearing, speech, social development at birth, continuos fisting present. On nervous system examination, higher psychic function- social smile was still not achieved, conscious; motor system examination revealed increased tone in all four limbs, jerks exaggerated in all four limbs, plantar- bilaterally extensor. Other system examinations revealed no abnormality.
Fig: Our Case
Provisional Diagnosis: Spastic quadriplegic Cerebral palsy with epilepsy with global developmental delay with failure to Thrive
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Pediatric Case Diary
Points in favor for CP - H/O PNA - Disorder of movement and posture causing activity limitation - Motor delay - Increased tone in all four limbs
Points in Favor for Epilepsy - Repeated unprovoked seizures characterized by sudden extension of all limbs, rolling of eyes. - Occasional bladder incontinence. Differential Diagnosis:
Spastic quadriplegic Cerebral palsy with West Syndrome with global developmental delay with failure to Thrive
Points in favor for West syndrome - Infantile spasm since 3 months of age - Developmental delay
Investigations:
Fig: Early infantile epileptic encephalopathy
EEG: Frequent sharp and spike wave at frontal temporal and occipital region, some generalized spike wave complexes with left sided predominance and asymmetrical burst suppression pattern. The epileptiform activity were more prominent during sleep. Findings consistent with early infantile epileptic encephalopathy as the epileptiform discharges were consistent in sleep and wake state.
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CT scan of brain: Features consistent with atrophy and encephalomalacic changes-most likely sequel of birth asphyxia.
Other Investigations:
CBC Hb : 9.8 g/dl ESR: 22 mm in 1st hour TC WBC: 10,000/cm DC: N- 28%, L- 60%, RBS 4.1 mmol/L S. Electrolytes Na+ :141mmol/L K+ : 6.1 mmol/L Cl- :110 mmol/L TCO2 : 21mmol/L S. Creatinine 0.45mg/dl SGPT 36 U/L Ophthalmological evaluation Normal
Final Diagnosis: Spastic quadriplegic Cerebral palsy with West Syndrome with global developmental delay with failure to Thrive
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Pediatric Case Diary
CASE-107
Presenting Complaints:
o Difficulty in walking for 3 months. o Deterioration of school performances for same duration. o Difficulty in speech for 15 days.
Case Summary:
XY, 9-year old boy, 4th issue of his non consanguineous parents, fully immunized, hailing from Sirajganj was admitted with walking difficulty, deterioration of school performances for 3 months and slow slurred speech for last 15 days. He also had difficulty in chewing, closing an open mouth and emotional lability. He had no h/o measles, jaundice, convulsion, unconsciousness or similar type of illness in his family. On examination, he had factitious smile with open mouth, mildly pale, leukonychia but anicteric. Vital parameters were within normal limit and anthropometrically well thriving. Nervous system examination revealed slow slurred speech along with rigidity and exaggerated deep tendon reflexes of all four limbs with left sided dystonia. Plantar were bilaterally extensor and gait was limping. Sensory and cranial nerve functions were intact.There was hepatosplenomegaly. Other systemic examinations revealed no abnormality.
Provisional Diagnosis: Neurodegenerative disease probably Wilson disease (Neurological and Hepatic manifestations)
Wilson disease (Neurological manifestation)
Points in favor ❑ History: O/E : • Progressive deterioration of motor • Wilsonian facies function • Dystonia. • Slow with slurred speech • Rigidity in all four limbs • Emotional lability. • Deep reflexes were exaggerated • Deterioration of school performance.
Wilson disease (Hepatic manifestation)
Points in favor Points against - Leukonychia - No h/o jaundice - Hepatosplenomegaly present - No other stigmata of CLD
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Differential Diagnosis:
- SSPE
- Leukodystrophy
Points in favor for SSPE Points against • Deterioration of school • Hepatosplenomegaly performances • No H/O Measles and was vaccinated • Deep reflexes were exaggerated against Measles.
Points in favor for Leukodystrophy Points against • Gradual deterioration of school • Hepatosplenomegaly performances • Deep reflexes were exaggerated
Plan of Investigations:
• CBC with PBF • S. Ceruloplasmin • 24 hour urinary copper estimation. • Slit lamp exam of eye • SGPT, PT • S.Creatinine • Endoscopy of Upper GIT • USG of HBS • MRI of brain. • Psychological assessment
Investigations: CBC Hb : 10.5 g/dl, ESR: 05 mm in 1st hour TC WBC: 4,000/cm DC: N- 53%, L- 36%, M- 02%, E-01% Platelet: 1,00,000/cumm PBF Mild normocytic normochromic anemia with thrombocytopenia. Serum ceruloplasmin 4mg/dl
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Pediatric Case Diary
24 hours urinary copper 544 µg/day Eye Evaluation Slit lamp examination: K –F ring present. USG of HBS Coarse hepatic parenchyma, Splenomegaly Liver function test SGPT –86 U/L Prothrombin time: 17.6 sec INR: 1.48 Serum Creatinine 0.8mg/dl (0.5-1.3mg/dl) Endoscopy of upper GIT Grade II esophageal varices Portal hypertensive gastropathy Psychological Assessment WISC-R was applied. Mild impairment in intellectual function.
Fig: Hyperintense signal changes in lentiform nucleus
Final Diagnosis: Wilson disease (with neurological manifestation and compensated CLD with Portal Hypertension)
317
Pediatric Case Diary
CASE-108
Presenting Complaints:
o Repeated seizure episodes since 3 ½ months of age.
o Neck control still not achieved.
Case summary:
XX, 5-month old female child, only issue of her non-consanguineousparents, hailing from Noakhali, got admitted with the complaints of repeated episodes of seizure since 3 ½ months age, seizure was in the form of epileptic spasm with sudden symmetrical contraction of neck along with both upper and lower extremities towards trunk, occurring in clusters. Each cluster consisted of 5-6 volleys, 10-15 clusters per day. Seizure was more marked while awakening from sleep. She still did not achieve neck control and she had history of NICU admission after birth due to perinatal asphyxia with HIE II. There was no history of neonatal jaundice, fever, unconsciousness, excessive vomiting, abnormal urine or body odor. On examination, she was conscious, not interested to surroundings, vital signs were within normal limit. Anthropometrically, she was well thriving, but microcephaly present. On nervous system examination, hypertonia with exaggerated deep tendon reflexes was present in all four limbs. Developmental assessment revealed global developmental delay, persistence of all primitive reflexes. Other systemic examinations revealed normal findings.
Provisional Diagnosis: Spastic quadriplegic Cerebral palsy with West syndrome with Global developmental delay.
Points in favor for Cerebral Palsy From history: On Examination: - Developmental delay - Features of spastic quadriplegia present. - H/O PNA - Global developmental delay. - Repeated seizure - Persistence of primitive reflexes. - Microcephaly present Points in favor for West Syndrome - Suggestive age - Typical seizure type (epileptic spasm) - Developmental delay
Differential Diagnosis: Neurometabolic disease with West syndrome with Global developmental delay.
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Pediatric Case Diary
Points in favor for Neurometabolic disease Points against - Repeated seizure. - No H/O consanguinity. - Developmental delay. - No H/O sib death. - No family history of such type of illness. - No H/O of vomiting, abnormal urine or body odor.
Investigations plan:
To Establish Diagnosis: EEG
To Establish Etiology: MRI of brain / CT Scan of brain For Treatment Purpose: • CBC • Urine RME • Liver Function Test, Renal Function Test • Visual assessment • Hearing assessment
EEG: Burst suppression pattern with generalized slowing of background activity
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Pediatric Case Diary
Fig: CT scan of brain showed generalized cortical atrophy.
CBC Hb: 12.9 g/dl ESR: 03 mm in 1st hour TC WBC: 9,500/cm DC: N- 60%, L- 38%, M- 02%, E-0% Platelet: 1,70,000/cumm Urine R/E Normal RBS 5.6 mmol/ L S. Electrolytes Na+ : 137 mmol/L K+ : 4.6 mm0l/L Cl(-) : 102mmol/L S. Creatinine 0.2 mg/dl S. SGPT 12 U/l Hearing assessment Normal Visual assessment Bilateral pale optic disc.
Final Diagnosis: Spastic quadriplegic cerebral palsy with West syndrome with global developmental delay.
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Pediatric Case Diary
CASE-109
Presenting Complaints:
o Fever for 9 days. o Vomiting for 3 days. o Single episode of seizure 1 day back.
Case Summary:
XY, 18-month old boy, unimmunized, got admitted with the complaints of high grade continued fever for 9 days, vomiting for 3 days and single episode of focal seizure evidenced by upward rolling of eyeballs and vacant stare 1 day back. He had no history of cough, respiratory distress, unconsciousness, limb weakness, difficulty in micturition, ear infection or blood mixed stool. His birth history was uneventful, developmentally age appropriate. On examination, he was irritable, febrile, tachypneic and tachycardic, moderately pale, anterior fontanelle was about to be closed. BCG mark was absent, neck rigidity was present. Anthropometry was within normal limit. There was bilateral corneal opacity, fundoscopy was normal. On nervous system examination, he was conscious, deep tendon reflexes were normal, plantar reflex- flexor bilaterally. Other systemic examinations revealed normal findings.
Provisional Diagnosis: Acute pyogenic meningitis
Points in favor - High grade continued fever - Vomiting - Irritability - Convulsion - Neck rigidity present
Differential Diagnosis:
Brain abscess
Points in favor Points against - High grade continued fever - Neck rigidity present - Vomiting - Irritability - Focal convulsion
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Pediatric Case Diary
Initial plan of Investigations:
• Complete Blood Count • Urine R/E • Blood C/S • Serum Electrolyte • CT scan of brain • CSF analysis • Fundoscopy
Treatment on admission: • NG tube feeding • IV fluid • Inj. Dexamethasone – 0.15 mg/kg/dose • Inj. Ceftriaxone – 100 mg/kg/day • Inj. Vancomycin - 60mg/kg/day • Syp.Paracetamol – 15 mg/kg/dose
Investigations:
CBC Hb : 7.7 gm/dl ESR : 70 mm in 1st hr TC WBC : 8,500/cmm Platelet count : 3,50 x 109 / L DC: N- 82% , L-14%, E- 02%, M- 02% CSF analysis Morphology – • Amount – 2 ml • Color - straw • Appearance – hazy • Pressure - high Biochemistry – • Protein – 4.5 gm /L ( 0.15- 0.45 gm/L) • Glucose - 0.45 mmol /L (2.2 – 3.8 mmol/L) Cytology – • Total cell count – 40 / cmm • N – 80%, L – 20%, RBC- present • Gram stain – gram positive cocci arranged in short chain • AFB – not found Urine R/E Pus cell: 0 -2 / HPF, Epithelial cell: 2-3 / HPF
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Pediatric Case Diary
Blood C/S No growth of organism S. Electrolytes Sodium – 121 mmol/L Potassium – 3.3 mmol/L Chloride – 87 mmol/L Ophthalmologic consultation Keratitis in both eyes Fundus – normal Healthy optic disc with clean media MT Negative (02 mm) CXR Normal CT scan of brain:
Fig 1: Both lateral ventricles- mildly dilated. Extra ventricular CSF spaces- widened.
Impression –Mild generalized cerebral atrophy.
Fig 2: Our finding vs brain abscess: (a) our patient (b) CT scan of brain abscess
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Pediatric Case Diary
At hospital stay day 1:
The patient developed several episodes of generalized tonic - clonic seizure. It was managed by:
- Inj. Phenobarbitone – initial loading dose followed by maintenance was given.
-Inj. Fosphenytoin – initial loading followed by maintenance dose was added.
At hospital stay day 8: Several events occurred like
- Convulsion reappeared (tonic clonic spasm of both upper limbs persisting for 1-2 minutes) during tapering dose of Inj. Fosphenytoin.
- Right sided hemiplegia
- Left sided lower motor neuron type of facial palsy (fig 3)
Fig 3: Left sided lower motor neuron type of facial palsy.
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Fig 4: T2W2 hyperintense signal changes noted in left thalamoganglionic region.
Fig 5: MRI of brain: Ventricles- mildly dilated. Extra ventricular CSF spaces- widened. Meningeal and cerebral intense enhancement of the lesions- noted. Restricted diffusion is seen in DW.
Impression: Suggestive of meningitis with cerebral involvement.
Final Diagnosis: Tubercular meningitis (stage 2) with right sided hemiplegia with left sided lower motor neuron type of facial palsy. 325
Pediatric Case Diary
CASE-110
Presenting Complaints:
o Fever for 1 month. o Recurrent episodes of convulsion for 22 days. o Unconscious for 20 days.
Case Summary: XY, 7-month old immunized boy, 3rd issue non consanguineous parents presented with high grade, intermittent fever for 1 month associated with recurrent generalized tonic type seizure and unconsciousness. He had no H/O cough and respiratory distress, alteration of bowel habit but there was H/O close contact with TB patient. His mother was a known case of pulmonary TB and was treated with anti-TB drugs and she completed total 6 months of medications. INH prophylaxis was not given to the patient prior to this illness. For this illness, he was treated with parenteral antibiotics, anticonvulsant and anti-TB at MMCH before admission to BSMMU. Clinically, he was unconscious (GCS-6/15) with decerebrate posture, febrile, BCG mark present, upper motor neuron lesion present in both extremities with bilateral convergent squint and sluggish pupillary light reaction. Other systemic examinations revealed nothing abnormalities.
Provisional diagnosis: Tubercular Meningitis (stage-III)
Points in favor Points against • Prolonged fever. BCG mark present • Unconsciousness • Seizure • H/O close contact with TB pt. (mother known case of pul. TB). • He was not in INH prophylaxis. • Focal neurological signs present (spastic quadriplegia) • Decerebrate posture
Differential Diagnosis: Pyogenic meningitis with complication
Points in favor Points against • High grade fever. • Long duration of illness • Unconsciousness • H/O close contact with TB present. • Seizure • Focal neurological signs present (spastic quadriplegia) • Decerebrate posture
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Pediatric Case Diary
Investigations:
CBC Hb : 9.8 g/dl, ESR: 60 mm in 1st hour TC WBC: 11,400/cm, DC: N- 65%, L- 30%, Platelet: 3,80,000/cumm RBS 4.9 mmol/ L S. Electrolytes Na+ : 136mmol/L, K+ : 4.0mm0l/L Cl- : 103mmol/L MT Test Negative CSF Study (ventricular tap) Physical Exam: Volume:1.2ml, Color : watery Cytology Exam: WBC:23/cumm, N:07%, L: 93% Biochemistry Exam: Glucose: 2.7mmol/l, Protein: 100mg/dl Microbiological Exam: Gram stain: Gram reactive organism not found. AFB Stain: AFB not found MTB/MDR/XDR by multiplex real time PCR: Not detected. Ophthalmological assessment: Optic disc pale in B/E, Fundus- Patchy changes and chorioretinal changes in B/E
Fig: CXR: Scattered miliary opacities seen Fig: CT scan of Brain. in both lung fields.
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Pediatric Case Diary
Fig: CT scan of Brain
CT scan of Brain:
- Diffuse bilateral periventricular and paraventricular white matter ischaemia. - Multiple small intracerebral haemorrhages of both sided basal ganglia, gyral hemorrhage of both sided parieto-temporo occipital regions. - Dilatation of all ventricles with periventricular seepage suggestive of meningo- encephalitis and communicating hydrocephalus.
Final diagnosis: Disseminated TB (TBM with miliary TB) with communicating hydrocephalus.
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Pediatric Case Diary
CASE-111
Presenting Complaints:
o Difficulty in walking for 3 years. o Difficulty in getting up from floor for 1 year.
Case summary:
XY, 10-year old male child, immunized as per EPI schedule, 3rd issue of non-consanguineous parents, hailing from Comilla attended to OPD with the complaints of difficulty in walking and frequent fall for last 3 years which started from 7 years of his age and difficulties in movements including getting up from the floor for last 1 year. His weakness was progressively increasing leading to loss of ambulation for last 4 months. He also developed gradual deterioration of school performance. He had no history of fever, cough, respiratory distress, convulsion, impairment of consciousness, feeding difficulty or nasal voice. There was no history of delayed development. No family history of such type of illness.
On examination, he was ill-looking, mildly pale, vital signs within normal limit, skin survey- normal, back and spine- normal. Anthropometry – normal. On nervous system examination- he was well-alert, co-operative, oriented, behaviour and cognition normal. He had lordotic posture, hypertrophied calf muscles and wasting of thigh, pectoral and gluteal muscles, muscle power was diminished. Other motor functions, cerebellar (exceptco-ordination), sensory and cranial nerves were intact. On locomotor system examination- there were no signs of arthritis or deformity in any joints and passive movement was possible in all the joints. Gower sign couldn’t be elicited, winging of scapula and slipping sign present. On Alimentary system examination- tongue was hypertrophied but no fasciculation. Other systemicexaminations revealed nothing abnormality.
Fig: Restricted movement. Fig: Calf muscles.
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Pediatric Case Diary
Fig: Winging of scapula Fig: Slipping sign – Present
Provisional Diagnosis: Duchenne Muscular Dystrophy
Points in favor Points against - Male child. - Delayed age of onset (at 7 yrs of - Difficulty in walking and frequent fall. age) - Difficulty in getting up from floor. - No history of delayed milestones. - Weakness: progressive and loss of - Maternal uncles are not affected. ambulation at 10 years of age. - No history of respiratory or feeding - Deterioration of school performance. difficulty. - Pseudohypertrophy of calf muscle and wasting of thigh, pectoralis and gluteal muscles. - Tongue: hypertrophied. - Winging of scapula present - Slipping sign present.
Differential Diagnosis: Becker’s Muscular Dystrophy
Points in favor (for Becker’s Muscular Points against Dystrophy) - Later age of onset - Ambulation lost in 1st decade. - Pseudohypertrophy of calf muscles and wasting - Deterioration of school of thigh, pectoralis and gluteal muscles. performance.
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Pediatric Case Diary
Plan of Investigations: Psychological assessment. Serum CPK EMG Muscle biopsy X-RAY Chest ECG Echocardiogram Investigations:
CBC Hb: 9 g/dl TC WBC: 6,800/cm DC: N- 53%, L- 45%, M- 01%, M-01% Serum CPK 51,000 U/l ECG Normal
Fig: Muscle biopsy from calf muscle
Muscle biopsy: Section showed skeletal muscle and focal loss of cross striation, internalization of nuclei, myophagosis and infiltration of fatty tissue.
Final Diagnosis: Duchenne Muscular Dystrophy
Family screening: Advice given to do S. CPK level for younger brother.
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Pediatric Case Diary
CASE-112
Presenting Complaints:
o Weakness of both upper and lower limbs for 20 days.
o Difficulty in walking for same duration.
Case Summary:
XY, 12-year old immunized boy of non consanguineous parents hailing from Bhola presented with weakness of both upper and lower limbs for 20 days which was symmetrical, gradually progressive and ascending in nature that first involved the lower limbs then the upper limbs. The weakness was associated with difficulty in walking. He had no H/O fever, trauma, bowel and bladder involvement or difficulty in swallowing. No H/O recent diarrhoea, respiratory tract infection or vaccination. On examination, the child was conscious, co-operative, pulse- 88/ min R/R -22 br/min, BP- 90/60 mm of Hg, Temp- 98°F. Weight- seen in both lung fields 31kg (on 5thcentile) Height- 139 cm (on 25th centile). Cranial nerves were intact, muscle bulks were normal in both upper and lower limbs, muscle tone was diminished in both upper and lower limbs, muscle strength was also diminished in both upper and lower limbs and it was grade 3/5. All jerks were normal except ankle jerk which was absent, superficial reflexes were absent, plantar response was equivocal. Sensory functions were intact and no signs of meningeal irritation.
Provisional Diagnosis: Acute flaccid paralysis due to GuillainBarre´ Syndrome
Points in favor 1. Symmetrical, progressive, flaccid paralysis 2. Ascending in nature 3. Superficial reflexes- absent 4. Plantar response- equivocal 5. Sensory- Intact
Differential Diagnoses: Transverse myelitis
Points in favor Points against 1. Symmetrical flaccid paralysis 1. No bowel-bladder involvement 2. No Sensory level 3. Plantar response- equivocal
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Pediatric Case Diary
Paralytic Poliomyelitis
Points in favor: Points against: Flaccid paralysis 1. Symmetrical paralysis 2. No fever
Plan of Investigations: 1. CSF study 2. Nerve conduction velocity 3. Electromyogram- Normal 4. MRI of cervical Spine-Normal 5. Stool for viral culture
Investigations:
CBC Hb : 10.5 g/dl ESR: 20 mm in 1st hour TC WBC: 9,000/cm DC: N- 60, L- 20%, RBC: 4.0 ×10¹²/L Platelet Count: 3,50,000/cumm PBF Microcytic hypochromic anaemia with few target cells. Nerve Conduction Study-EMG Motor and Sensory axonal polyneuropathy (suggestive of Acute motor and sensory axonal neuropathy variety of GuillainBarrē syndrome).
Final Diagnosis: Guillain Barre´ Syndrome
333
Pediatric Case Diary
CASE-113
Presenting Complaints:
o Recurrent convulsion for last 5 years. o Speech difficulty for 4 years. o Difficulty in walking for 25 days. Case Summary:
XY, 5 ½ year old immunized boy, 1st issue of non consanguineous parents was admitted with the complaint of recurrent convulsion for last 5 years which was generalized tonic clonic in nature persisted for 2-3 min, without post-ictal drowsiness. For above complaint, he was treated with different antiepileptic drugs. With these drugs, the frequency was reduced but not completely cured. For last 5 days, the frequency again increased. Mother also complained of his speech difficulty for last 4 years and he had difficulty in walking for 25 days. He had no history of fever associated with this illness, no history of visual problem, abdominal pain, red color urine. On general examination, he was ill-looking, dystonic posture present, there was adenoma sebaceum in the face, hypomelanotic macules on trunk and limbs, Shagreen patch in the lumbo-sacral region. He was hypertensive and on abdomen examination, both kidneys were ballotable. Other systemic examinations revealed nothing abnormality.
Fig: Adenoma sebaceum and shagreen patch in the face
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Pediatric Case Diary
Fig: Hypomelanotic macules (Ash-leaf) Fig: Café-au-lit spot on the trunk extremities.
Provisional Diagnosis: Neuro-cutaneous disorder – (Tuberous Sclerosis Complex) with Epilepsy with Polycystic kidney disease.
Investigations:
EEG Localized epileptogenic area with diffused encephalopathy CT scan of brain Sub-ependymal calcification USG of whole abdomen Bilateral polycystic kidneys
Echocardiograph Good bi-ventricular function, asymmetrical hypertrophy of IVS Ophthalmoscopy Abnormal findings not detected
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Pediatric Case Diary
Fig: Localized epileptogenic area with diffused encephalopathy
Fig: Sub-ependymal calcification Fig: Polycystic kidneys
Final Diagnosis: Tuberous Sclerosis Complex with Epilepsy with Polycystic Kidney Disease.
336
Pediatric Case Diary
CASE-114
Presenting Complaints:
o Sudden weakness of left side of body for 5 days.
o Deviation of angle of mouth to the right for same duration.
Case Summary:
XY, 4-year old boy, 1st issue of non consanguineous parents got admitted with the complaints of sudden onset of left sided hemiplegia with deviation of angle of mouth to the right for 5 days. He had history of low grade fever about 20 days back. There was no history of vomiting, headache, convulsion, unconsciousness, visual disturbance or any trauma, bladder or bowel incontinence, any bleeding manifestation, repeated RTI or acute fluid loss. His developmental milestones were age appropriate. On examination, the child was conscious with deviation of angle of the mouth to the right. Anthropometrically, he was well thriving and vitals were stable. On nervous system examination, his higher psychic function was normal. Cranial nerves were intact except upper motor type of facial nerve palsy present on the left side with features of upper motor neuron lesion on the same side of body. Sensory function and cerebellar function were intact. Other systemic examinations revealed no abnormality.
Provisional diagnosis: Acute Stroke Syndrome
Points in favor History: • Sudden weakness of left side of body. • Deviation of angle of mouth to the right. O/E: • Left sided upper motor type of facial nerve palsy • Power: Reduced in both upper and lower limb of left side. • Jerk: Exaggerated in left side of the body. • Plantar Response: Extensor in left side.
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Pediatric Case Diary
Differential Diagnosis:
ADEM (Acute Disseminated Encephalomyelitis)
Points in favor Points against • History of preceding fever. • Sudden onset of paralysis. • Weakness of left side of body. • No history of O/E : encephalopathy. Left sided upper motor type of facial nerve palsy Muscle Power: Reduced on left side of the body. Plantar Response: Extensor on left side.
Investigations:
CBC Hb : 12.6 gm/dl ESR: 22mm in 1st hour TC WBC : 4,000/ cumm DC : N- 73%, L- 20%, M- 04% Platelet – 4,90,000/cumm MCV-85.7 fl MCH-28.6pg MCHC-33.3g/dl PBF Normocytic normochromic anaemia Coagulation Profile PT: 14 sec INR: Normal APTT:32sec Serum Ferritin 18.52 microgram/L Serum Cholesterol 350mg/dl ECG Normal findings Echocardiogram Normal findings RBS 10.5mmol/ L S. Creatinine 0.57 mg/dl Electrolytes Na+ : 136mmol K+ : 4.0mm0l/L Cl- : 103mmol/L
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Pediatric Case Diary
Plan of Investigations: - Protein C - Protein S - Anti Phospholipid Antibody - ANA - Antithrombin III - Factor IV Leyden
MRI of Brain Axial MRI Brain Axial section MRI Brain Axial section T2 Image section DWI Image FLAIR Image showing showing hyperintense image showing Hyperintense hyperintense image involving Right fronto-parietal area signal involving Right involving Right fronto- fronto-parietal region parietal area of Brain.
MRA- Normal
Final Diagnosis: Acute Stroke Syndrome
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Pediatric Case Diary
CASE-115
Presenting Complaints:
o Fever for 2 months. o Headache for 2 months. o Bluish discoloration of lips, tongue, fingers and toes since 2 years of age.
Case Summary:
XY, 6-year old boy, 2nd issue of his non consanguineous parents, immunized, hailing from Sylhet got admitted to BSMMU with the complaints of diffuse and progressively increasing headache for 2 months associated with occasional nausea and vomiting. He had fever which was initially low grade, intermittent and then became high grade, continued in nature associated with chills and rigor and highest recorded temperature was 103ºF. He had bluish discoloration of lips, tongue, extremities since 2 years of age and was diagnosed as a case of congenital cyanotic heart disease and treated thereby. Mother gave no history of visual abnormality, ENT or dental infection, altered level of consciousness, convulsion and contact with TB patient, trauma.
On examination, he was ill looking, irritable, severely wasted and moderately stunted, severely cyanosed, clubbing and conjunctival congestion- present. He had Temp-101°F, Pulse- 96 b/min, R/R-32/min, BP- 80/45 mm Hg, SPO2-85%. His higher psychic function, cranial nerves and sensory function were intact. Motor function revealed power of the muscle 4/5, exaggerated deep tendon reflexes and plantar extensor on left lower limb. On CVS examination, precordium was bulged, left parasternal heave present, a systolic murmur of grade 3/6 present, best heard in pulmonary area. Other systemic examinations revealed normal findings.
Fig: Clubbing Fig: Clubbing Fig: Cyanosis (blue lip)
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Pediatric Case Diary
Fig: Bulged precordium
Provisional Diagnosis:
Congenital cyanotic heart disease (most probably TOF) with Brain abscess.
Points in favor ▪ Prolonged fever ▪ Progressively increasing headache ▪ Occasional nausea and vomiting ▪ Presence of cyanotic heart disease ▪ Fundoscopic examination- papilloedema ▪ Deep tendon reflexes exaggerated on left lower limb with plantar extensor
Differential Diagnosis:
Congenital cyanotic heart disease with tuberculoma.
Points in favor Points against • Prolonged fever • Presence of congenital cyanotic • Progressively increasing headache heart disease. • Occasional vomiting • No history of contact with TB patient • Focal neurologic signs • BCG mark present • Fundoscopy- papilloedema • Fundoscopy- No choroid tubercle
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Pediatric Case Diary
Investigations:
CBC Hb : 20.9g/dl ESR: 05 mm in 1st hour TC WBC: 12,500/cm DC: N- 85%, L- 10%, M- 05% RBC: 9.06×10¹²/L Platelet Count: 1,50,000/cumm PCV- 64.4 % MCV- 71.1 fl MCHC- 32.5 g/dl CXR Cardiomegaly with boot shaped heart, rt. ventricular enlargement with upturned cardiac apex, pulmonary vasculature: normal. Echocardiography Tetralogy of Fallot CT scan of brain Fairly large mixed density lesion (about 5.2 cm x4.2 cm) having thin dense margin noted at right parietal lobe and basal ganglia region, shifting midline to left side. Suggestive of ICSOL at right cerebral hemisphere with marked peri focal edema and mass effect suggestive of brain abscess.
Fig: Boot shaped heart Fig: CT sacn showing brain abscess
Final Diagnosis: Tetralogy of Fallot with Brain Abscess
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Pediatric Case Diary
CASE-116
Presenting Complaints:
o Fever for 3 days. o Convulsion for 3days. o Unconsciousness for 10 hours.
Case Summary:
XX, 2 ½ year old immunized girl, 2nd issue of her non-consanguineous parents got admitted with the complaints of high grade irregular fever for last 3 days followed by focal-clonic convulsion for last 3 days with gradually increasing frequency and duration. Mother also complained of unconsciousness for last 10 hours. She had no H/O trauma, rash, diarrhoea and contact with TB patient. On examination, she was unconscious, GCS- 5/15, febrile, no signs of meningeal irritation present, BP- 90/50mm Hg (below 90th centile), anthropometry showed she was severely undernourished, neurological examination revealed increased muscle tone in both upper and lower limbs, reflex exaggerated on both knee joints, plantar extensor on both sides.
Provisional Diagnosis: Acute Encephalitis
Points in favor -F ever (less than 1week) - Seizure - Altered sensorium - Features of upper motor neuron lesion present.
Differential Diagnosis: Acute meningitis
Points in favor Points against Fever (less than 1 week) No sign of meningeal irritation Seizure Altered sensorium Investigations:
CBC Hb: 11.2 g/dl, ESR: 60 mm in 1st hour TC WBC 18,000/cmm, DC : N- 84%, L- 14%, M- 01% Platelet : 2,65,000/cmm PBF Leukocytosis S. Electrolytes Na+ 138 mmol/L, K + 4.6 mmol/L, Cl- 98 mmol/L
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Pediatric Case Diary
TCO2: 21.5 mmol/L CSF study • Color-clear • Total cell count-25/cumm • Neutrophil-20% • L-80%, • Glucose-3.6mmol/L • Protein-43 mg/dl • Gram stain-no organism seen Blood culture No growth CT scan of brain Normal findings EEG Generalized encephalopathy with localized epileptogenic area MRI Hyperintense area seen in both parieto temporal regions, also seen in right thalamus and both basal ganglia, predominantly right sided.
EEG report- Generalized encephalopathy with localized epileptogenic area
Fig: MRI of brain- Hyperintense area seen in both parieto temporal regions, also seen in right thalamus and both basal ganglia, predominantly right sided.
Final Diagnosis: Acute encephalitis most probably due to HSV.
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Pediatric Case Diary
CASE-117
Presenting Complaints:
o Fever for 4 days.
o Retention of urine for 4 days.
o Weakness of both lower limbs for 3 days.
Case Summary:
XY, 12-year old boy, only issue of non-consanguineous parents, hailing from Noakhali, was admitted with the complaints of high grade continued fever along with sudden onset of retention of urine for 4 days. He also developed sudden, non-progressive paraplegia more prominent on the left side without loss of any sensation. He also had severe headache, generalized bodyache and excessive sleepiness. On examination, he was drowsy, febrile, hypertensive, catheter in situ, no signs of meningeal irritation. Motor function of lower limbs revealed hypotonia, power reduced on both side (more diminished on the left), areflexia. Plantar reflexes equivocal on both sides, gait could not be seen. Motor functions of both upper limbs revealed normal findings. Fundoscopy revealed bilateral papilloedema and bilateral VIth nerve palsy present. Sensory and cerebellar functions were intact.
Provisional Diagnosis: Acute Disseminated Encephalomyelitis (ADEM)
Points in favor: Points against: 1. Features of encephalopathy present. No H/O preceding fever or any recent 2. Paraplegia. vaccination. 3. Retention of urine. 4. Cranial nerve involvement. 5. Hypertension and papilloedema. Differential Diagnoses: Guillain –Barre Syndrome
Points in favor Points against 1. Flaccid paraplegia 1. No H/O preceding fever or diarrhoea, RTI. 2. Cranial nerve involvement 2. Flaccid type of paralysis not ascending in 3. Hypertensive nature. Encephalitis
Points in favor Points against 1. High grade continued fever 1. Retention of urine 2. Severe headache 2. No sign of meningeal irritation. 3. Excessive sleepiness, drowsy.
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Pediatric Case Diary
Plan of investigations:
- MRI of Brain with contrast with spine screening
- NCV and EMG
- CSF study
- CBC Urine R/M/E
Investigations:
CBC Hb- 14.9 g/dl, ESR-30 mm in 1st hour TC- 17,000/cmm, DC: N- 84%, L- 11%, M- 04% Urine R/M/E Normal RBS 4.9mmol/l NCV and EMG Mild polyradiculopathy MRI of Brain Multiple bilateral asymmetrical flare hyperintense areas of variable sizes without mass effect noted at lentiform nucleus of basal ganglia, external capsule, peri trigonal region and peri ventricular region. MRI of Spinal cord Multiple T2WI hyperintense areas noted at intramedullary region of spinal cord at lower cervical and upper dorsal region. Spinal cord mildly swollen at C3-C7.
Fig: MRI of brain and spinal cord
Final Diagnosis: Acute Disseminated Encephalomyelitis (ADEM)
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Pediatric Case Diary
CASE-118
Presenting Complaints:
o Nasal voice and dysphagia for last 6 months. o Bilateral partial dropping of both eyes and easy fatigability for same duration.
Case Summary:
A 15-year old boy, 4th issue of his nonconsanguineous parents, immunized as per EPI schedule, presented with nasal voice and dysphagia for last 6 months. He also complained of bilateral partial dropping of both eyes and easy fatigability during prolonged walking and running for same duration. All these symptoms were more marked in evening but full recovery by the following morning. He also developed double vision for same duration. There was no history of cough, dyspnea, dysarthria, joint pain, fever or skin rash. On examination he was conscious, bilateral partial ptosis of both eyes present, vitals were within normal limit. Developmentally, he was age appropriate. On nervous system examination, eyelid movement was limited in upward direction, visual acuity, visual field, pupillary light reflex and accommodation reflex were normal. On motor examination, there was no muscle wasting, tenderness or fasciculation. Muscle tone was normal, power was diminished on both lower limbs and deep tendon reflex was normal. Fatigability test, neostigmine test and ice pack test were positive (fig.1). Other systemic examinations revealed normal findings.
Before ice pack application After ice pack application Fig1: Positive ice pack test
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Pediatric Case Diary
Provisional Diagnosis: Myasthenia Gravis most probably Juvenile (Autoimmune) myasthenia
Points in favor for Myasthenia Gravis Points in favor for Juvenile Autoimmunemyasthenia • Bilateral partial ptosis. • Age of onset- 14 years • Difficulty in swallowing • Easy fatigability. • Diplopia
Differential Diagnosis: Myopathy
Investigations Result CBC Hb: 13.1gm/dl TC WBC: 10,500/mm3 Platelet: 4,00,000/mm3 ESR: 05 mm in 1st hour RBS 6.6 m mol/l S. Electrolytes Na+ 134 mmol/l K+ 3.8 mmol/l Cl- 101 mmol/l S. Creatinine 0.66 mg/dl TSH 2.07 mIU/L CK 72 U/L CXR Normal FOL Normal EMG and NCS -Normal. Repetitive nerve stimulation -Single fiber repetitive nerve stimulation test revealed test significant (>10%) decremental response between 1st and 4th stimulation post exercise facilitation after brief (10 sec) exercise. Findings consistent with post synaptic neuromuscular junction disorder (Myasthenia Gravis) CT Scan of Chest Normal Anti Acetylcholine receptor Ab Patient’s parent could not afford Anti ThyroglobulinAb Anti Thyroid peroxidase Ab
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Pediatric Case Diary
All his routine examination including CBC, renal function, serum electrolytes, CXR, FOL were normal.EMG – Normal, NCV – Normal, Single fiber repetitive nerve stimulation test revealed significant decremental response between 1st and 4th stimulation. CT scan of chest showed normal finding (table 1).
Final Diagnosis: Juvenile Myasthenia Gravis.
Pictures of other patients
Fig: Ptosis present in both eyes which improves about 3 mm by ice test.
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