Korean J Pathol.  2004 Feb;38(1):56-59.

Alagille Syndrome: A Case Report

• Shim H
• Park C
• Kim SI
• Park YN

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.

Keyword

Alagille Syndrome; Intrahepatic Bile Duct; Heart Disease

MeSH Terms

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