Novel variant syndrome associated with congenital hepatic fibrosis

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.

Keywords: Congenital hepatic fibrosis; Nystagmus; Mental retardation; Retinitis pigmentosa; High-arched palate

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.