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Clinics and Practice
Volume 5
Issue 4
10.4081/cp.2015.792
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Clinics and Practice is published by MDPI from Volume 11 Issue 1 (2021). Previous articles were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence, and they are hosted by MDPI on mdpi.com as a courtesy and upon agreement with PAGEPress.
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Case Report

A Family of Congenital Hepatic Fibrosis and Atypical Retinitis Pigmentosa

by
Sunil Pawar
1,*,
Vinay Zanwar
1,
Ashok Mohite
1,
Ravindra Surude
1,
Pravin Rathi
1 and
Meenakshi Balasubramani
2
1
Department of Gastroenterology, Topiwala National Medical College and Bai Yamunabai Laxman Nair Hospital, Mumbai, Maharashtra, India
2
Department of Pathology, Topiwala National Medical College and Bai Yamunabai Laxman Nair Hospital, Mumbai, Maharashtra, India
*
Author to whom correspondence should be addressed.
Clin. Pract. 2015, 5(4), 792; https://doi.org/10.4081/cp.2015.792
Submission received: 8 June 2015 / Revised: 8 June 2015 / Accepted: 28 September 2015 / Published: 5 November 2015

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.
Keywords: congenital hepatic fibrosis; retinitis pigmentosa; esophageal varices congenital hepatic fibrosis; retinitis pigmentosa; esophageal varices

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MDPI and ACS Style

Pawar, S.; Zanwar, V.; Mohite, A.; Surude, R.; Rathi, P.; Balasubramani, M. A Family of Congenital Hepatic Fibrosis and Atypical Retinitis Pigmentosa. Clin. Pract. 2015, 5, 792. https://doi.org/10.4081/cp.2015.792

AMA Style

Pawar S, Zanwar V, Mohite A, Surude R, Rathi P, Balasubramani M. A Family of Congenital Hepatic Fibrosis and Atypical Retinitis Pigmentosa. Clinics and Practice. 2015; 5(4):792. https://doi.org/10.4081/cp.2015.792

Chicago/Turabian Style

Pawar, Sunil, Vinay Zanwar, Ashok Mohite, Ravindra Surude, Pravin Rathi, and Meenakshi Balasubramani. 2015. "A Family of Congenital Hepatic Fibrosis and Atypical Retinitis Pigmentosa" Clinics and Practice 5, no. 4: 792. https://doi.org/10.4081/cp.2015.792

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