|
KMID : 0357920040380010056
|
|
Korean Journal of Pathology
2004 Volume.38 No. 1 p.56 ~ p.59
|
|
|
Alagille Syndrome - A Case Report -
|
|
Shim Hyo-Sup
Park Chan-Il
Kim Soon-Il
Park Young-Nyun
|
|
|
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
|
|
|
FullTexts / Linksout information
|
|
 
|
|
|
Listed journal information
|
|
  
|