Bayraktar Y, Yonem O, Varlı K, Taylan H, Shorbagi A, Sokmensuer C. Novel variant syndrome associated with congenital hepatic fibrosis. World J Clin Cases 2015; 3(10): 904-910 [PMID: 26488028 DOI: 10.12998/wjcc.v3.i10.904]
Corresponding Author of This Article
Yusuf Bayraktar, MD, Department of Gastroenterology, Faculty of Medicine, Hacettepe University, sıhhiye yerlesgesi 06100, Ankara, Turkey. bayrak@hacettepe.edu.tr
Research Domain of This Article
Allergy
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Clin Cases. Oct 16, 2015; 3(10): 904-910 Published online Oct 16, 2015. doi: 10.12998/wjcc.v3.i10.904
Novel variant syndrome associated with congenital hepatic fibrosis
Yusuf Bayraktar, Ozlem Yonem, Kubilay Varlı, Hande Taylan, Ali Shorbagi, Cenk Sokmensuer
Yusuf Bayraktar, Ali Shorbagi, Department of Gastroenterology, Faculty of Medicine, Hacettepe University, Ankara 312, Turkey
Ozlem Yonem, Department of Gastroenterology, Cumhuriyet University, Sivas 346, Turkey
Kubilay Varlı, Department of Neurology, Hacettepe University, Ankara 312, Turkey
Hande Taylan, Department of Ophthalmology, Hacettepe University, Ankara 312, Turkey
Cenk Sokmensuer, Department of Pathology, Hacettepe University, Ankara 312, Turkey
Author contributions: All authors contributed to this manuscript.
Institutional review board statement: The study was reviewed and approved by the Hacettepe University Institutional Review Board.
Informed consent statement: All study participants, or their legal guardian, provided informed written consent prior to study enrollment.
Conflict-of-interest statement: The authors declare no conflict of interest.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non-commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Correspondence to: Yusuf Bayraktar, MD, Department of Gastroenterology, Faculty of Medicine, Hacettepe University, sıhhiye yerlesgesi 06100, Ankara, Turkey. bayrak@hacettepe.edu.tr
Telephone: +90-532-4323966 Fax: +90-312-4429429
Received: February 28, 2015 Peer-review started: March 1, 2015 First decision: April 23, 2015 Revised: May 3, 2015 Accepted: July 15, 2015 Article in press: July 22, 2015 Published online: October 16, 2015
Abstract
Congenital hepatic fibrosis is part of many different malformation syndromes, of which oculo-encephalo-hepato-renal syndrome is the most common. These syndromes largely overlap, and so accurate classification of individual patients may be difficult. We present herein three syndromic siblings who were products of a consanguineous marriage. We investigated in detail at least six organ systems in these patients, namely the liver, brain, eye, kidneys, skeleton, and gonads. The common features observed in these three cases were congenital hepatic fibrosis, retinitis pigmentosa, truncal obesity, rotatory nystagmus, mental retardation, advanced myopia, and high-arched palate. The clinical dysmorphology in these patients was distinct and lacked the major features of the known syndromes associated with congenital hepatic fibrosis. Although some features of these presented cases are similar to those found in Bardet-Biedl syndrome (BBS), the absence of some major criteria of BBS (polydactyly, renal abnormality, and hypogonadism) suggests that this may be a new syndrome. All three patients remain under follow-up in the departments of Gastroenterology, Ophthalmology, and Neurology at Hacettepe University.
Core tip: Congenital hepatic fibrosis is an inherited disorder that may also accompany other congenital syndromes. Here, we present three siblings with a new variant syndrome characterized by congenital hepatic fibrosis, retinitis pigmentosa, mental retardation, nystagmus, high-arched palate, truncal obesity, and advanced myopia.
