Cases in Pediatric Gastroenterology From The Children's Hospital of Philadelphia: A 2-Year-Old Boy With Diarrhea, Failure to Thrive, and Hepatomegaly

Daniel H. Leung, MD; Catherine Chung, MD; Petar Mamula, MD; Kathleen M. Loomes, MD Series Editors: Petar Mamula, MD; Kathleen M. Loomes, MD; David A. Piccoli, MD


January 14, 2009

Case Presentation

A 2-year-old Armenian boy presented, accompanied by his parents, with a chief complaint of diarrhea. During the previous 2 weeks, he averaged 6 loose, nonbloody stools per day, exhibited poor energy, poor appetite, and decreased urine output over the past 24 hours. His mother reported a history of fever with body temperature up to 102°F and emesis 1 week before presentation. His parents were concerned that he had shown no weight gain or linear growth during the past 6 months despite nutritional supplementation. His review of systems was otherwise negative.

Medical history revealed that the patient was a former 32-week twin A with a 2-week neonatal intensive care unit stay. He had a history of patent ductus arteriosus and received indomethacin treatment. His history was also notable for nephrolithiasis on previous ultrasound and sizable urinary crystals observed by the parents. Family history was significant for nephrolithiasis in his maternal grandmother. There was no consanguinity between the parents. There had been no recent travel, sick contacts, or foreign visitors. He had a history of developmental delay and did not walk until 17 months of age. He was not receiving any medications. There was no history of allergies.

On physical examination, his height and weight were both below the 5th percentile. Except for a heart rate of 130 beats/min, his vital signs were within normal range. In general, the patient was small, thin, and fussy, but consolable. Head, eyes, ears, nose, and mouth examination revealed dry, cracked lips. His lung examination was unremarkable. His heart examination was normal. His abdomen was round and protuberant with a soft liver palpable 6-7 cm below the right costal margin. There was no splenomegaly. He had normal bowel sounds. His skin revealed no rashes, jaundice, cyanosis, or bruising. His neurologic examination revealed mild hypotonia in his lower extremities, with 2+ deep tendon reflexes bilaterally. He had mild speech delay.

A complete metabolic panel; complete blood count with differential; coagulation studies; urinalysis; and bacterial, viral, and parasitic stool cultures were obtained. Abnormal blood test results included a serum CO2 level of 14 mmol/L (reference range, 20-26 mmol/L); glucose level of 41 mg/dL (range, 74-127 mg/dL); alanine and aspartate aminotransferase levels of 247 IU/L (range, 5-45 IU/L) and 182 IU/L (range, 20-60 IU/L), respectively; and an albumin level of 2.4 g/dL (range, 3.5-4.6 g/dL). His urinalysis revealed moderate ketones with a pH of 6. All obtained stool studies were negative. His remaining laboratory studies were unremarkable. Abdominal and chest x-rays were normal.

Diagnostic Question

What is the differential diagnosis?

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