Journal List > Korean J Pediatr Gastroenterol Nutr > v.5(2) > 1110433

Korean J Pediatr Gastroenterol Nutr. 2002 Sep;5(2):192-198. Korean.
Published online Sep 30, 2002.  https://doi.org/10.5223/kjpgn.2002.5.2.192
Copyright © 2002 The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition
A Case of Alagille Syndrome
Eun Soo Kim, Dong Woo Lee, Ki Sup Chung, Soon Il Kim,* and Young Nyun Park
Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea.
*Department of Surgery, Yonsei University College of Medicine, Seoul, Korea.
Department of Pathology, Yonsei University College of Medicine, Seoul, Korea.
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.

Keywords: Alagille syndrome; Paucity of interlobular bile duct; Liver transplantation; Children