A Case of Alagille's Syndrome

Alagille 증후군의 1예

This is a case report of a 5-month-old male who was brought in to hospital for evaluation of jaundice from birth. The baby had a history of ileal atresia operated 2 days after birth. At the age of one month, Tc-99m DISIDA hepatobiliary scintigraphy was performed at other hospital and reported to show good hepatic uptake of the tracer but no uptake in the biliary tree, gall bladder, or intestine for 24 hours post injection. He was judged to have biliary atresia. However, subsequent exploratory laparotomy revealed that the hepatobiliary tree appeared intact and that there was a gall bladder. Additionally, the patient had central aorto-pulmonary shunt for the right ventricular septal defect with pulmonary stenosis of a peripheral type at the age of 4 months. The second hepatobiliary scintigraphy was performed on admission at the age of 5 months, showing a gall bladder but no intestinal uptake up to 24 hours. Retrospectively, the histological specimen of the liver obtained at the exploratory laparotomy was re-evaluated, and by the histological findings coupled with clinical data, arteriohepatic dysplasia (Alagille's syndrome) was diagnosed. In this report, we emphasize the diagnostic limitation of hepatobiliary scintigraphy and the importance of overall clinical and histologic evaluation in a case of Alagille's syndrome.