A 14‐month‐old boy was admitted with failure to thrive. He had 10–14 stools daily, occurring within 15 minutes of eating. He had pruritis. There were no recent fevers or vomiting. There was no history of jaundice, icterus, or meconium ileus. Medical history included solitary left kidney with mild hydronephrosis and poor weight gain. Weight was 7.3 kg, length 69 cm, head circumference 43.5 cm (all < 3rd percentile). Pulse was 142, respiratory rate 26, blood pressure 128/80. Scleral icterus was present. He had a III/VI systolic murmur, loudest at left upper sternal border with radiation to back and axillae. Abdomen was soft without organomegaly. Skin had pearly, white to yellow papules on fingers and hands and diffuse excoriations were present on trunk. Ophthalmologic exam was normal. Lab testing revealed AST 139, ALT 113, GGT 1079, alkaline phosphatase 1498, total bilirubin 2.9, direct bilirubin 2.5. PT was 9.2. Cholesterol was 1625, lipase 35. Fecal fat was moderate. Chest x‐ray demonstrated multiple “butterfly” vertebral anomalies. Sweat chloride testing was negative. Echocardiogram revealed mild‐moderate bilateral branch pulmonary artery stenosis. Skin biopsy of the papule was consistent with xanthoma. Jagged‐1 gene mutation testing was confirmed.
Infant cholestasis is a diagnostic challenge for general pediatricians as it can arise from obstructive, infectious, toxic and genetic/metabolic causes. The most common obstructive cause is biliary atresia, which typically presents with jaundice by two months of age. The most common infectious agents include TORCH pathogens in neonates along with adenovirus, parvovirus and EBV. The most common toxin is parenteral nutrition. There are a number of genetic/metabolic causes, but the most common ones include Alagille syndrome, α‐1‐antitrypsin deficiency, and cystic fibrosis. Our patient had almost all cardinal features of Alagille syndrome, an autosomal dominant disorder associated with paucity of bile ducts and cholestatic jaundice. A mutation of the gene Jagged‐1 is identified as the cause in the majority of patients. Patients typically present with cholestatic jaundice in infancy. Pruritis is a common symptom. Common associated findings include cardiac anomalies, particularly pulmonary artery stenosis, skeletal anomalies, especially “butterfly” vertebrae, renal anomalies, xanthomas, and posterior embryotoxin deposition (Scwalbe's line) in the eye. In patients with typical presentation and positive confirmatory gene testing, liver biopsy is unnecessary. Treatment is supportive and typically involves ursodiol, rifampin and/or cholestyramine to manage the jaundice and pruritis. Patients often have fat malabsorption and may require calorie and vitamin ADEK supplementation. 20% of patients progress to end stage liver disease. The condition is amenable to liver transplantation.
A good understanding of the differential for cholestatic jaundice will be invaluable in arriving at a diagnosis in an efficient and timely manner.
To cite this abstract:Stephens J. Itchy and Scratchy: A 14‐Month‐Old Boy with Cholestasis. Abstract published at Hospital Medicine 2013, May 16-19, National Harbor, Md. Abstract 384. Journal of Hospital Medicine. 2013; 8 (suppl 2). https://www.shmabstracts.com/abstract/itchy-and-scratchy-a-14monthold-boy-with-cholestasis/. Accessed January 22, 2020.