A Case of Alagille Syndrome

Alagille 증후군 1례

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.

저자들은 지속적인 황달을 주소로 연세의대 세브란스병원에 입원하였던 10개월 된 남아에서 특징적인 얼굴모양, 심혈관계 이상, 간 생검 조직검사상 담즙 정체, 거대세포 형성 및 소염관 담관의 수가 감소되어 있었고, 퇴원 후 간경변으로 이행되어 간 이식수술을 받았던 Alagille증후군 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.