Alagille Syndrome: A Case Report
Korean Journal of Pathology
;
: 56-59, 2004.
Article
in English
| WPRIM
| ID: wpr-118538
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Aortic Valve Stenosis
/
Bile Ducts
/
Bile Ducts, Intrahepatic
/
Biopsy
/
Fibrosis
/
Echocardiography
/
Cholestasis
/
Heart Murmurs
/
Liver Transplantation
/
Alagille Syndrome
Limits:
Humans
/
Infant
/
Male
Language:
English
Journal:
Korean Journal of Pathology
Year:
2004
Type:
Article
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