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Korean J Pediatr Gastroenterol Nutr. 2008 Mar;11(1):60-64. Korean.
Published online Mar 31, 2008.  https://doi.org/10.5223/kjpgn.2008.11.1.60
Copyright © 2008 The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition
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, and 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.
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