MS is a 5-month-old Caucasian male who was admitted for evaluation of hepatomegaly. He was well 1 month prior to admission when he was seen by his pediatrician and treated for otitis media. Over the next 4 weeks he became less active and had a decrease in appetite but did not appear sick. Hepatomegaly was found on a subsequent scheduled examination, and he was admitted for evaluation. There was no history of nausea, vomiting, diarrhea, change in stool pattern, jaundice, flushing, bleeding, petechiae, abdominal pain, or ingestion of medicines other than prescribed antibiotics. There was no family history for tumor or cancer, but a maternal aunt and two first cousins have undergone previous radiation therapy for cutaneous hemangiomas.
On examination he was a pale, irritable infant with an enlarged abdomen, but without respiratory compromise. His vital signs showed a weight of 8.2 kg (50th percentile), height of 68 cm (75th percentile), pulse 120 beats per minute (bpm), respirations 25 per minute, and blood pressure 85/65 mm Hg. His skin was normal without cutaneous birth marks or hemangiomas. HEENT exam was normal. Cardiovascular examination revealed tachycardia with a grade IIiVI flow murmur, but no gallop, and his lungs were clear. His abdomen was distended with a girth of 55 cm and contained a large, nontender, but firm liver that filled his abdomen and extended to the pelvic rim below the right costal margin. Multiple soft nodules up to 3 cm in diameter were palpable throughout the liver, but no bruits were appreciated. His extremities and pulses were normal. He was neurologically intact.
On laboratory evaluation his initial hemoglobin was 7.4 g/dl with 2.3% reticulocytes, platelets 491,00O/ml, and WBC 9,90O/ml with 14% neutrophils, 80% lymphocytes, 8% monocytes, and 1% eosinophils. His SCOT was 35 IU (normal <50), SGPT 57 IU (<33), alkaline phosphatase 46 IU, LDH 145 IU, (90-215), protein 6.4