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The Korean Journal of Pathology 2004;38(1): 56-59.
Alagille Syndrome: A Case Report.
Hyosup Shim, Chanil Park, Soon Il Kim, Young Nyun Park
1Department of Pathology, Brain Korea 21 Projects for Medical Sciences, Yonsei University College of Medicine, Seoul, Korea. young0608@yumc.yonsei.ac.kr
2Department of Surgery, Yonsei University College of Medicine, Seoul, Korea.
Alagille syndrome is a rare autosomal dominant disorder showing complicated systemic manifestations, although the hepatic manifestations are predominant in many patients. We report a case of Alagille syndrome in a male baby who presented with a heart murmur at 2 days old and his echocardiography showed aortic stenosis. He presented with acholic stool and jaundice at 3 months old and a liver biopsy revealed paucity of the interlobular bile duct in the portal tract. This progressed to cirrhosis, for which a liver transplantation was performed at 10 months old. The explanted liver showed biliary-type cirrhosis with severe cholestasis. There was an absence of the interlobular bile ducts on microscopic examination. Bile duct paucity, associated with cholestasis, a peculiar face (prominent forehead, deep-set eyes, pointed mandible and bulbous nasal tip), and cardiac anomaly were observed, which were consistent with Alagille syndrome. He died of heart failure.
Key Words: Alagille Syndrome; Intrahepatic Bile Duct; Heart Disease
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