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An 8-Year-Old Boy with Fever, Splenomegaly, and Pancytopenia

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An 8-Year-Old Boy with Fever, Splenomegaly, and Pancytopenia An 8-Year-Old Boy With Fever, Splenomegaly, and Pancytopenia Rachel Offenbacher, MD,a,b Brad Rybinski, BS,b Tuhina Joseph, DO, MS,a,b Nora Rahmani, MD,a,b Thomas Boucher, BS,b Daniel A. Weiser, MDa,b An 8-year-old boy with no significant past medical history presented to his abstract pediatrician with 5 days of fever, diffuse abdominal pain, and pallor. The pediatrician referred the patient to the emergency department (ED), out of concern for possible malignancy. Initial vital signs indicated fever, tachypnea, and tachycardia. Physical examination was significant for marked abdominal distension, hepatosplenomegaly, and abdominal tenderness in the right upper and lower quadrants. Initial laboratory studies were notable for pancytopenia as well as an elevated erythrocyte sedimentation rate and C-reactive protein. aThe Children’s Hospital at Montefiore, Bronx, New York; and bAlbert Einstein College of Medicine, Bronx, New York Computed tomography (CT) of the abdomen and pelvis showed massive splenomegaly. The only significant history of travel was immigration from Dr Offenbacher led the writing of the manuscript, recruited various specialists for writing the Albania 10 months before admission. The patient was admitted to a tertiary manuscript, revised all versions of the manuscript, care children’s hospital and was evaluated by hematology–oncology, and was involved in the care of the patient; infectious disease, genetics, and rheumatology subspecialty teams. Our Mr Rybinski contributed to the writing of the multidisciplinary panel of experts will discuss the evaluation of pancytopenia manuscript and critically revised the manuscript; Dr Joseph contributed to the writing of the manuscript, with apparent multiorgan involvement and the diagnosis and appropriate cared for the patient, and was critically revised all management of a rare disease. versions of the manuscript; Dr Rahmani contributed to the writing of the manuscript, revised the manuscript, and was involved in the care of the patient; Mr Boucher contributed to the writing and DR OFFENBACHER (PEDIATRIC RESIDENT) revision of the manuscript; Dr Weiser led the writing minute, blood pressure of 113/81 of the final manuscript, revised the manuscript, and An 8-year-old previously healthy boy mm Hg, and oxygen saturation of 97% was involved in the care of the patient; and all fi presented to his pediatrician with on room air. Eye examination was authors approved the nal manuscript as submitted. fi 5 days of fever and diffuse abdominal signi cant for conjunctival pallor with DOI: https://doi.org/10.1542/peds.2019-2372 pain, worse in the lower right quadrant anicteric sclerae. Cardiovascular and Accepted for publication Jan 28, 2020 and associated with decreased oral pulmonary examinations revealed no Address correspondence to Rachel Offenbacher, MD, intake, nausea, and nonbloody, murmurs, rhonchi, rales, or wheezing. Department of Pediatrics, Children’s Hospital at fi nonbilious emesis. There was no Abdominal examination was signi cant Montefiore, 3415 Bainbridge Ave, Bronx, NY 10467. constipation, diarrhea, or weight loss for marked distention, hypoactive E-mail: [email protected] and no history of respiratory symptoms bowel sounds, and tenderness to PEDIATRICS (ISSN Numbers: Print, 0031-4005; Online, or activity change. He reported feeling palpation along the right side without 1098-4275). slightly fatigued in the recent week. He rebound tenderness. His liver was Copyright © 2020 by the American Academy of had significant abdominal distention enlarged and palpable 2 cm below the Pediatrics and pallor on brief assessment. His right costal margin. His spleen was FINANCIAL DISCLOSURE: The authors have indicated fi mother reported no sick contacts. His grossly enlarged and palpable to the they have no nancial relationships relevant to this article to disclose. only history of travel was emigrating level of his pelvis, crossing the midline. FUNDING: from Albania 10 months before His skin was intact without lesions, No external funding. admission. His pediatrician sent him to rashes, or jaundice. There were no POTENTIAL CONFLICT OF INTEREST: The authors have fl the ED for further evaluation. musculoskeletal deformities noted, indicated they have no potential con icts of interest with full range of motion in all major to disclose. In the ED, initial vital signs revealed joints. There was no lymphadenopathy. a temperature of 102.7°F (39.3°C), A thorough family history taken from To cite: OffenbacherR,RybinskiB,JosephT,etal. respiratory rate of 47 breaths per the mother, a nurse, revealed no An 8-Year-Old Boy With Fever, Splenomegaly, and Pancytopenia. Pediatrics. 2020;146(1):e20192372 minute, heart rate of 137 beats per incidence of thalassemia, Downloaded from www.aappublications.org/news by guest on September 27, 2021 PEDIATRICS Volume 146, number 1, July 2020:e20192372 DIAGNOSTIC DILEMMAS immunodeficiency, autoimmune effusions and 3-mm calcified diseases, cancers, or metabolic granuloma within the left upper lobe disorders. of the lung (Fig 1) without any lymphadenopathy. Initial laboratory studies revealed pancytopenia (white blood cell count In the setting of fever and 1.4 3 103 per µL [absolute neutrophil neutropenia, a blood culture was count 900], hemoglobin 7.2 g/dL, drawn, and cefepime was initiated platelet count 64 3 103 per mL, mean to provide empirical coverage for corpuscular volume 78.9 fL) (Table 1) potential bacteremia. as well as elevated inflammatory Hematology–oncology was consulted markers (erythrocyte sedimentation because of the patient’s pancytopenia rate: 74 mm per hour, C-reactive and massive splenomegaly. Dr protein: 6.84 mg/dL). Point-of-care Rahmani, given the physical finger-stick hemoglobin done by our examination and laboratory findings, patient’s pediatrician 2 months are you concerned about a primary before presentation was normal, hematologic or oncologic process at suggesting acute onset of anemia. this point? Reticulocyte count was 89.9, with a slightly elevated percentage of DR RAHMANI (PEDIATRIC 3.6%. The metabolic profile, bilirubin, HEMATOLOGIST–ONCOLOGIST) lactate dehydrogenase, and uric acid ’ levels were normal. Given our patient s fever, splenomegaly, and pancytopenia, I am A CT scan of his abdomen and pelvis concerned about acute lymphoblastic revealed a liver size within normal leukemia (ALL), the most common limits and marked splenomegaly hematologic malignancy in children (24 3 16 3 5 cm). Although the CT and adolescents.1 Fever can be showed displacement of the bowel by caused by ALL itself or in the setting the enlarged spleen, the bowel and of an opportunistic infection, both appendix were normal, with no signs of which can result in elevated of neutropenic colitis or appendicitis inflammatory markers. Leukemic and no lymphadenopathy. Chest CT infiltration of the liver and spleen revealed mild to moderate pleural results in hepatosplenomegaly, and FIGURE 1 A and B, CT scan of the abdomen without TABLE 1 Initial Laboratory Evaluation: Admission, 24 Hours After Beginning Treatment and After contrast. There is marked splenomegaly (24 3 Completion of Treatment 16 3 5 cm). Spleen is heterogeneous in ap- Admission Data 24 h After 1 mo After Initial pearance with ill-defined areas of low density Initiation of Presentation scattered throughout the spleen. This is a non- fi fi Amphotericin speci c nding. The liver is not enlarged. There is no peritoneal or pelvic fluid. The gallbladder WBC count (4.5–13.5), k/mL 1.4 5 5.9 is not enlarged. The bowel is displaced medi- Hemoglobin (12.0–14.4), g/dL 7.2 8.1 13.5 ally and inferiorly by the spleen, but the Hematocrit (35–40), % 23.6 26.3 42.8 intestines and mesentery are normal. The ap- Platelet count (150–400), k/mL 42 144 162 pendix is normal. There is no abdominal or Mean corpuscular value (77–95), fL 77 79.1 77 pelvic lymphadenopathy. There are small to Red cell distrbibution width (11.5–13.4), % 16.9 17.4 18.8 moderate pleural effusions with subsegmental Mean corpuscular hemoglobin 30.7 30.1 31.5 atelectasis at the lung bases and posteriorly in concentration (31–37), g/dL the lungs. RBC count (4.00–5.20), MIL/mL 3.07 3.4 5.55 Neutrophil count (1.5–8.0), k/mL 1.3 3 2.2 Lymphocyte count (1.5–6.0), k/mL 0.8 1.5 3 replacement of bone marrow with – Monocyte count (0.3 0.5), k/mL 0.1 0.4 0.5 leukemic lymphoblasts results in Eosinophil count (0.1–0.3), k/mL 0 0 0.2 2 Spleen size Spleen palpated Spleen palpated Spleen palpated pancytopenia. In our patient, the at the umbilicus at the level of the 2 cm below absence of lymphadenopathy, as and in the LLQ umbilicus costovertebral noted in half of patients with ALL, margin does not narrow the differential.3 LLQ, left lower quadrant; MIL, millions. Given the high suspicion for leukemia, Downloaded from www.aappublications.org/news by guest on September 27, 2021 2 OFFENBACHER et al a bone marrow aspirate and biopsy autoimmune disorders, and certain EBV, CMV, or parvovirus), or by bone should be obtained because they are genetic disorders, such as lysosomal marrow or spleen infiltration. the most sensitive and definitive tests storage diseases (LSDs).2 The latter 3 Although the most recent travel to diagnose leukemia and allow for diagnoses are not likely given the history was 10 months ago, we histologic review. One may also negative family history of should also consider typical consider other diagnoses that occur autoimmune and genetic disorders. pathogens that cause fever in a recent in this age group, such as Langerhans immigrant or returned traveler and of cell histiocytosis or lymphomas and, DR OFFENBACHER course be aware of those exposures although rare, primary hepatic specific to Albania. Of the infections malignancies, including Because the patient’s presentation endemic to this region, those that hepatoblastoma and hepatocellular was highly concerning for acute cause fever, splenomegaly, and carcinoma.4 leukemia, we initiated precautions for pancytopenia include tuberculosis, tumor lysis syndrome, including malaria, visceral leishmaniasis (VL), Pancytopenia can also be caused by hyperhydration (1.5 cc per hour and brucellosis.
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