Premium
Laurence‐Moon‐Biedl syndrome accompanied by congenital hepatic fibrosis
Author(s) -
NAKAMURA FUKASHI,
SASAKI HIROSHI,
KAJIHARA HIROKI,
YAMANOUE MICHIO
Publication year - 1990
Publication title -
journal of gastroenterology and hepatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.214
H-Index - 130
eISSN - 1440-1746
pISSN - 0815-9319
DOI - 10.1111/j.1440-1746.1990.tb01826.x
Subject(s) - medicine , cystic fibrosis , congenital hepatic fibrosis , pathology , pediatrics , gastroenterology , portal hypertension , cirrhosis
A 33 year old woman with mental deficiency, retinitis pigmentosa, obesity, and parental consanguinity (heredity) was diagnosed as having Laurence‐Moon‐Biedl syndrome. She also had diabetes mellitus, slight hepatic dysfunction, and hepatomegaly. Liver biopsy showed perilobular fibrosis and bile duct proliferation with cystic dilatation; these findings are consistent with those of congenital hepatic fibrosis.