Korean J Pediatr Gastroenterol Nutr.  2008 Mar;11(1):60-64.

A Case of Congenital Hepatic Fibrosis in Kabuki Syndrome

Affiliations
  • 1Department of Pediatrics, Keimyung University School of Medicine, Daegu, Korea. pedgi@korea.com
  • 2Department of Radiology, Keimyung University School of Medicine, Daegu, Korea.
  • 3Department of Pediatrics, Samsung Medical Center, Sungkyunkwan UniversitySchool of Medicine, Seoul, Korea.
  • 4Department of Pathology, Samsung Medical Center, Sungkyunkwan UniversitySchool of Medicine, Seoul, Korea.

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.

Keyword

Congenital hepatic fibrosis; Kabuki syndrome

MeSH Terms

Abnormalities, Multiple
Biliary Atresia
Cholangitis, Sclerosing
Cholestasis
Face
Fibrosis
Hematologic Diseases
Humans
Intellectual Disability
Vestibular Diseases
Abnormalities, Multiple
Face
Hematologic Diseases
Vestibular Diseases
Full Text Links
  • KJPGN
Actions
Cited
CITED
export Copy
Close
Share
  • Twitter
  • Facebook
Similar articles
Copyright © 2024 by Korean Association of Medical Journal Editors. All rights reserved.     E-mail: koreamed@kamje.or.kr