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Karnataka Paediatric Journal Vol. 25, No. 3, 4 July - Dec 2011

Karnataka Paediatric Journal Vol. 25, No. 3, 4 Quarterly ; July - December 2011 Journal of the IAP

Karnataka State Branch CONTENTS PAGE No. 1. Prevalence Of Hypertension And Prehypertension Among School Children 82-86 D NARAYANAPPA, HS RAJANI, KB MAHENDRAPPA, 2. Omental Infarct- A Rare Cause Acute Abdomen 87-88 DR.GURUPRASAD SHETTY,ABY DANY, SANJEEV RAI B,HABEEB KHAN,P.C. DAS 3. Klippel– Feil Syndrome: A Case Report 89-90 DR.HARSHA M ,SHARAN GOWDA PATIL, SHRIKANT SW, GACHINMANI N 4. Arthrogryposis Multiplex Congenita 91-93 Dr.Niveditha R., Dr.Vikram Singhal, Dr.Murali Keshav, Dr.Rajesh Sm, Dr.Kiran Baliga 5. Prevalence Of Anemia, Morbidity And Examination Performance Among 94-98 Lower Primary School Children Of Davangere City” DR.SARVAMANGALA.K .KOUJALGI. M.B MANJUNATH.T.P. 6. Para-Esophageal Hernia Presenting With Severe Anaemia and Pneumonia 99-101 DR.RAVICHANDRAG,FAHEEM M,RAGHAVENDRA B,DEVDAS A, HABEEBR, RESHAD M. 7. Profile Of Respiratory Distress Among NICU Admissions 102 DR BUDENSAB A H. SDM MEDICAL COLLEGE HOSPITAL DHARWAD 8. Multiple Splenic Abscesses Due To An Unsuspected Cause- Case Report 103-105 DR.NARAYANAPPA , DR.N.RASHMI , DR.ANIL KUMAR, DR.RAJANI.H.S ,DR.ANITHA.C 9. Vincristine Induced Unilateral Ptosis 106-108 DR. GURUPRASADA SHETTY, DR. K. SHREEDHARA AVABRATHA, DR B SANJEEV RAI , DR. SEEMA, DR ABY DANY AND DR. DINESH SHET 10. Familial Dandy Walker Variant. 109-111 DR. ROOPA.MANGSHETTY,DR. HOSGOUDA KIRAN, DR. SHRIKANTH.S.W. 11 Rett Syndrome - A Case Report 112-114 DR.R.SHANTI PRIYA, DR.RAJESH SM, DR.VIKRAM SINGHAL, DR.KIRAN BALIGA 12. A Single Center Observational Study Of Use Of Tacrolimus In Managing Nephrotic Syndrome And Review Of Literature 115-119 DR. SUDARSHAN SHETTY K. DR. KISHAN ALVA

EDITORIAL BOARD

EDITOR : EDITORIAL OFFICE DR. B. SANJEEV RAI Medicare Centre Karangalpady, Mangalore - 575 003 Ph : (0824) 2238399 (O), Fax : (0824) 2430361 E-mail : [email protected] Mob. : 94481-33494 MEMBERS : DR. HABEEB KHAN DR. PUSHPA KINI DR. SUDARSHAN S DR. RAMANATH MAHALE DR. SANTHOSH SOANS DR.KARUNAKAR BP DR. SUBRAMANYA NK

80 Karnataka Paediatric Journal Vol. 25, No. 3, 4 July - Dec 2011 ARTHROGRYPOSIS MULTIPLEX CONGENITA * Dr.Niveditha R., Dr.Vikram Singhal, Dr.Murali Keshav, Dr.Rajesh SM, Dr.Kiran Baliga

ABSTRACT: The clinical examination revealed Arthrogryposis is a congenital Term small for gestation age baby with disorder characterized by multiple joint microcephaly, deep set eyes, long eye lashes, which are present at birth. We low set ears, long philtrum, retrognathia, present the case of newborn with widely spaced nipple, flexion of arthrogryposis involving bilateral , all the four limbs. Baby has specific posture- and ankle joints with Osteum secondum Hip flexed, abducted and externally rotated Atrial Septal Defect. There is a possibility flexion at the and bilateral equinox of genetic counselling for some of the . Extension and pronation arthrogryphosis conditions which render the at elbow and fingers overlapping each other very precise diagnosis necessity. Figure : KEY WORDS: Arthrogryposis, Contractures INTRODUCTION Arthrogryposis Multiplex Congenita also called as amyloplasia is characterized by curved or hooked joints. It is a non- progressive, rare congenital disorder that is characterized by multiple joint contractures There was also a left sided inguinal and can include muscle weakness and hernia, bilateral crptochrodism, and Osteum fibrosis, which limits movement1. It is a secondum Atrial Septal Defect. Based on the heterogeneous group of disorders. There are above clinical features diagnosis of about 150 entities2. We present a 5 day old Arthrogryposis Multiplex Congenita was baby who presented to us with features of considered .Karyotyping was 46XY. Serum arthrogryposis. Creatinine Phospho Kinase, transaminase CASE REPORT: levels done to rule out A 5 day old male child born out of a were normal. Difficulty in initiation of feeds second degree consanguineous marriage to a and also maintenance of feeds was there. G2P1L1 mother, delivered by normal vaginal Child was on Ryle’s tube feeding for delivery with the birth weight of 1.75 kgs 14days. Oral stimulation and physiotherapy was referred to our hospital in view of was given and the gradually changed over congenital anomalies. Mother also gives a to pallada feeds and then discharged on history of decreased fetal movements direct breast feeds comparing to the previous pregnancy. DISCUSSION: Antenatal scans were normal. No family Arthrogryposis Multiplex Congenita history of congenital anomaly. (AMC) is a rare congenital diseases

* Department of Pediatrics, Kasturba Medical College, Mangalore, Manipal University.

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characterised by contractures of all 4 limbs. are lacking. Deformities are usually symmetric, AMC is seen in 1 out of every 3,000 live and severity increases distally, with hands births with no sex predominance. and feet typically being the most deformed. Amyoplasia, the most common form (43%) Associated with joint dislocation, especially is characterized by fatty and fibrous tissue the and, occasionally, the knees. replacement of the limb muscles .Risk in Atrophy may be present, and muscles or subsequent pregnancy is about 5%. AMC is muscle groups may be absent2. typically symmetrical and involves all four Sensation is usually intact, although extremities with some variation seen .Some deep tendon reflexes may be diminished or of the more common signs and symptoms absent. In 2/3 of patients all four limbs are are associated with the (internal affected equally and in 1/3 of patients rotation), elbow (extension and pronation), lower-limb deformities predominate, and wrist (volar and ulnar), hand (fingers in only on rare occasions do the upper fixed flexion and thumb-in-palm), hip extremities predominate. Deformities tend to (flexed, abducted and externally rotated, be more severe and more rigid distally.4 often dislocated), knee (flexion) and foot Management is mainly conservative ().Complications may include and consist of gentle stretching ,light weight , , respiratory splinting, casting, soft tissue relearns, muscle problems, growth retardation, midfacial transfer and Outcomes better if hemangioma, facial and jaw variations, and joint surgery is done early, before adaptive abdominal hernias. Cognition and language intraarticular changes occur. are are usually normal .Different etiologies, usually performed closer to the completion clinical courses, prognosis genetics, and of growth. Early motion, and avoidance of pathologic processes has been put forward2. prolonged casting, may increase joint The principal cause of AMC is motion, improving function. Many children believed to be decreased fetal movements require long-term bracing or other assistive (akinesia) caused by maternal or fetal devices. Many will have feeding problem. abnormalities. Fetal abnormalities As a whole a holistic team approach should (neurogenic, muscle, or be there5. abnormalities, mechanical limitations to No prenatal diagnostic tools are movement like .Maternal available to test for the condition. Muscle disorders (infection, drugs, trauma, other biopsies, blood tests and general clinical maternal illnesses).1 30% of the cases genetic findings rule out other disorders like in nature and autosommal recessive in congenital muscular dystrophy, Spinal inheritance. Life span is usually related to muscular dystrophy, and the disease severity and associated and provide evidence for AMC. malformations. Nearly 20% of patients die in the 1st yr of life. Scoliosis may compromise Conclusion: respiratory function. By age 5 yrs 85% Arthrogryposis is a rare congenital ambulatory with normal mental development3. disorder. There is no cure for arthrogryposis, Physical Examination is best for but early vigorous can establishing a diagnosis. The limbs are help stretch out the contracted joints and featureless and tubular. Normal skin creases develop the weak muscles. The life span for

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an individual with arthrogryposis is usually 2) Smith’s recognizable patterns of normal, but may be altered by heart defects human malformation, Kenneth Lyons or central nervous system problems. Genetic Jones 17, 2005,576-579. counseling plays an important role in 3) A new arthrogryposis syndrome with management of Arthrogryposis Multiplex facial and limb anomalies. Am J Dis Congenita. Child 1975, 129:120-122. Reference: 4) Lovell and Winter, Pediatric Orthopedics 1) Arthrogryposis multiplex congenital: chapter 36 Page No.765-795. etiology, genetics, classification, 5) Robert M. Bernstein, Arthrogryposis diagnostic approach, and general and Amyoplasia. JAAOS 10(6):417- aspects. J Pediatr Orthop B 6 (3): 159–66. 424, 2002

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