Alagille Syndrome: A Case Report
Korean Journal of Pathology
;
: 56-59, 2004.
Artículo
en Inglés
| 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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Estenosis de la Válvula Aórtica
/
Conductos Biliares
/
Conductos Biliares Intrahepáticos
/
Biopsia
/
Fibrosis
/
Ecocardiografía
/
Colestasis
/
Soplos Cardíacos
/
Trasplante de Hígado
/
Síndrome de Alagille
Límite:
Humanos
/
Lactante
/
Masculino
Idioma:
Inglés
Revista:
Korean Journal of Pathology
Año:
2004
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS