A Case of Alagille Syndrome.
- Author:
Eun Soo KIM
1
;
Dong Woo LEE
;
Ki Sup CHUNG
;
Soon Il KIM
;
Young Nyun PARK
Author Information
1. Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea. kschung58@yumc.yonsei.ac.kr
- Publication Type:Case Report
- Keywords:
Alagille syndrome;
Paucity of interlobular bile duct;
Liver transplantation;
Children
- MeSH:
Alagille Syndrome*;
Biopsy;
Cardiovascular Abnormalities;
Child;
Cholestasis;
Constriction, Pathologic;
Dextrocardia;
Fibrosis;
Heart Arrest;
Humans;
Infant;
Jaundice;
Liver;
Liver Transplantation;
Male;
Situs Inversus
- From:Korean Journal of Pediatric Gastroenterology and Nutrition
2002;5(2):192-198
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Alagille syndrome is characterized by paucity of interlobular bile ducts, chronic cholestasis, characteristic facial abnormalities, cardiovascular abnormalities, posterior embryotoxon, vertebral arch defects, skeletal abnormalities, and glomerular renal involvement. We experienced a case of Alagille syndrome in a 10 month-old male presenting with jaundice. He had chronic cholestasis, characteristic face, cardiovascular abnormalities (aortic stenosis, dextrocardia, double chamber of left ventricle), and situs inversus. Histological examination of liver biopsy specimen revealed paucity of interlobular bile ducts with septal fibrosis, cirrhotic transformation and severe cholestasis. He underwent liver transplantation, but died of cardiopulmonary arrest associated with cardiac anomaly.