The patient, who was born full term to non-consanguineous parents following a pregnancy complicated only by polyhydramnios, was admitted with severe dehydration, weight loss and diarrhea on the sixth day of life. His electrolytes were significant for sodium 149 mmol/L, potassium 5 mmol/L, chloride 130 mmol/L, and bicarbonate 4.5 mmol/L. For the next 2 months, he suffered recurrent episodes of sepsis and suspected necrotizing enterocolitis. His stool output was secretory and large volume, ranging from 100 to 200 ml/kg/ day, and did not change with cessation of enteral feeds. Workup included stool cultures and serum titers negative for enteric bacteria, viral and parasitic infections, normal inflammatory markers, normal immunoglobulins and complement, normal gastrin and urine catecholamines. An endoscopic biopsy at 3 months of life showed total atrophy of the intestinal villi. Periodic acid-Schiff staining revealed targetoid structures in the cytoplasm of absorptive epithelial cells. Electron microscopy revealed spherical inclusions lined by microvilli within enterocytes. Surface microvilli were markedly decreased in number (Fig. 1). These EM findings were diagnostic of microvillous inclusion disease. He continued to receive total parenteral nutrition (TPN) as his sole nutrition and fluid source. By age 3 years, his TPN was adjusted to a regimen of 3–4 l of 15 % dextrose containing fluid infused over 12 h at night with a peak rate of 12–15 mg/kg/min of glucose. He fasted for 12 h during the day. His stool output continued to be between 3 and 4 l per day (100–200 ml/kg/day). After age 2 years, monthly laboratory monitoring showed electrolytes, serum aminotransferases and total bilirubin levels consistently less than two times the upper limit of normal. Serum triglyceride and cholesterol levels were always within normal limits. He was seen by endocrinology at 10 years of age due to decreased height velocity, not improved by an increase in the protein and caloric density of his TPN. He was diagnosed with mild compensated hypothyroidism with a normal free T4 and TSH 11 mcu/ml (normal 0.49–4.67 mcu/ ml) and was placed on intravenous levothyroxine. Given waxing and waning abdominal pain, an abdominal ultrasound at age 12 years revealed a diffuse increase in liver echogenicity without any focal lesions. The gallbladder appeared normal, without cholelithiasis. No interventions were done at that time. Labs were consistent with his normal baseline values with total bilirubin 0.8 mg/dl, AST 29 mg/dl, ALT 26 mg/dl, alkaline phosphatase 187 units/l, gamma-glutamyl transferase 33 units/l, albumin 3.3 g/dl and triglycerides 36 mg/dl. At age 14 years, he presented with a recurrence of right upper quadrant abdominal pain associated with vomiting and scleral icterus. Laboratory evaluation revealed total bilirubin 2.4 mg/dl, direct bilirubin 1.4 mg/dl, AST 19 mg/ dl, ALT 28 mg/dl, alkaline phosphatase 238 units/l, and gamma-glutamyl transferase 94 units/L. An abdominal ultrasound demonstrated multiple foci of shadowing echogenic material within the gallbladder, consistent with cholelithiasis. In addition, three round discrete lesions J. C. Burgis C. A. Pratt J. A. Kerner (&) Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Lucile Packard Children’s Hospital at Stanford, Stanford University Medical Center, 750 Welch Road Suite 116, Palo Alto, CA 94304-0126, USA e-mail: jkerner@stanfordmed.org
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Jun 12, 2013
Sheila M Innis 
Open Access