Alagille Syndrome: A Case Report.
- Author:
Hyosup SHIM
1
;
Chanil PARK
;
Soon Il KIM
;
Young Nyun PARK
Author Information
1. Department of Pathology, Brain Korea 21 Projects for Medical Sciences, Yonsei University College of Medicine, Seoul, Korea. young0608@yumc.yonsei.ac.kr
- Publication Type:Case Report
- Keywords:
Alagille Syndrome;
Intrahepatic Bile Duct;
Heart Disease
- MeSH:
Alagille Syndrome*;
Aortic Valve Stenosis;
Bile Ducts;
Bile Ducts, Intrahepatic;
Biopsy;
Cholestasis;
Echocardiography;
Fibrosis;
Forehead;
Heart Diseases;
Heart Failure;
Heart Murmurs;
Humans;
Infant;
Jaundice;
Liver;
Liver Transplantation;
Male;
Mandible
- From:Korean Journal of Pathology
2004;38(1):56-59
- CountryRepublic of Korea
- Language:English
-
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.
