Alagille Syndrome - A Case Report -
심효섭, 박찬일, 김순일, 박영년,
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심효섭 ( Shim Hyo-Sup )
연세대학교 의과대학 병리학교실
박찬일 ( Park Chan-Il )
연세대학교 의과대학 병리학교실
김순일 ( Kim Soon-Il )
연세대학교 의과대학 외과학교실
박영년 ( Park Young-Nyun )
연세대학교 의과대학 병리학교실
KMID : 0357920040380010056
Abstract
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.
키워드
Alagille Syndrome;Intrahepatic Bile Duct;Heart Disease
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