title: A Family of Congenital Hepatic Fibrosis and Atypical Retinitis Pigmentosa.
abstract: Congenital hepatic fibrosis is a rare cause of portal hypertension and esophageal varices in children. We report cases of siblings with biopsy proven congenital hepatic fibrosis and with atypical retinitis pigmentosa. They presented with repeated episodes of jaundice along with progressive decrease of vision in night. They had hepatosplenomegaly and portal hypertension with esophageal varices. One of the siblings had a large regenerating nodule replacing the entire right lobe of the liver and other one developed repeated hematemesis. This constellation of diagnosis belongs to the ciliopathy group of disorders. The spectrum of ciliopathy disorders has been evolving, and it varies from mild to severe manifestations.
authors.affiliation: Department of Gastroenterology.
authors.forename: Sunil
authors.initials: S
authors.lastname: Pawar
authors.affiliation: Department of Gastroenterology.
authors.forename: Vinay
authors.initials: V
authors.lastname: Zanwar
authors.affiliation: Department of Gastroenterology.
authors.forename: Ashok
authors.initials: A
authors.lastname: Mohite
authors.affiliation: Department of Gastroenterology.
authors.forename: Ravindra
authors.initials: R
authors.lastname: Surude
authors.affiliation: Department of Gastroenterology.
authors.forename: Pravin
authors.initials: P
authors.lastname: Rathi
authors.affiliation: Department of Pathology, Topiwala National Medical College and Bai Yamunabai Laxman Nair Hospital , Mumbai, Maharashtra, India.
authors.forename: Meenakshi
authors.initials: M
authors.lastname: Balasubramani
keywords: Congenital hepatic fibrosis; esophageal varices; retinitis pigmentosa