Journal List > Korean J Pediatr Gastroenterol Nutr > v.11(1) > 1110140

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Park, Chung, Lee, Lee, Choe, Song, Suh, and Hwang: A Case of Congenital Hepatic Fibrosis in Kabuki Syndrome
Case Report

Korean Journal of Pediatric Gastroenterology and Nutrition 2008; 11(1): 60-64.

Published online: 31 March 2008

DOI: https://doi.org/10.5223/kjpgn.2008.11.1.60

A Case of Congenital Hepatic Fibrosis in Kabuki Syndrome

Jae Hyun Park, Myung Hwa Chung, Hee Jung Lee*, Jee Hyun Lee†, Yon Ho Choe†, Sang Yong Song‡, Yeon Lim Suh‡, Jin Bok Hwang

Department of Pediatrics, Keimyung University School of Medicine, Daegu, Korea.

*Department of Radiology, Keimyung University School of Medicine, Daegu, Korea.

†Department of Pediatrics, Samsung Medical Center, Sungkyunkwan UniversitySchool of Medicine, Seoul, Korea.

‡Department of Pathology, Samsung Medical Center, Sungkyunkwan UniversitySchool of Medicine, Seoul, Korea.

pedgi@korea.com

Copyright © 2008 The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition

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.

Keywords: Congenital hepatic fibrosis, Kabuki syndrome

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