A Case of Congenital Hepatic Fibrosis in Kabuki Syndrome.
- Author:
Jae Hyun PARK
1
;
Myung Hwa CHUNG
;
Hee Jung LEE
;
Jee Hyun LEE
;
Yon Ho CHOE
;
Sang Yong SONG
;
Yeon Lim SUH
;
Jin Bok HWANG
Author Information
1. Department of Pediatrics, Keimyung University School of Medicine, Daegu, Korea. pedgi@korea.com
- Publication Type:Case Report
- Keywords:
Congenital hepatic fibrosis;
Kabuki syndrome
- MeSH:
Abnormalities, Multiple;
Biliary Atresia;
Cholangitis, Sclerosing;
Cholestasis;
Face;
Fibrosis;
Hematologic Diseases;
Humans;
Intellectual Disability;
Vestibular Diseases
- From:Korean Journal of Pediatric Gastroenterology and Nutrition
2008;11(1):60-64
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Kabuki syndrome is characterized by peculiar facial features, developmental delay, and mental retardation. Congenital hepatic abnormalities in Kabuki syndrome patients have been sporadically reported in the literature and consist of extrahepatic biliary atresia, neonatal sclerosing cholangitis, and transient neonatal cholestasis. We report here a case of congenital hepatic fibrosis in a patient with Kabuki syndrome. To our knowledge, only one case of congenital hepatic fibrosis has been reported in the setting of Kabuki syndrome.
