A family of congenital hepatic fibrosis and atypical retinitis pigmentosa

  • Sunil Pawar | svpnavodaya@gmail.com Department of Gastroenterology, Topiwala National Medical College and Bai Yamunabai Laxman Nair Hospital, Mumbai, Maharashtra, India.
  • Vinay Zanwar Department of Gastroenterology, Topiwala National Medical College and Bai Yamunabai Laxman Nair Hospital, Mumbai, Maharashtra, India.
  • Ashok Mohite Department of Gastroenterology, Topiwala National Medical College and Bai Yamunabai Laxman Nair Hospital, Mumbai, Maharashtra, India.
  • Ravindra Surude Department of Gastroenterology, Topiwala National Medical College and Bai Yamunabai Laxman Nair Hospital, Mumbai, Maharashtra, India.
  • Pravin Rathi Department of Gastroenterology, Topiwala National Medical College and Bai Yamunabai Laxman Nair Hospital, Mumbai, Maharashtra, India.
  • Meenakshi Balasubramani Department of Pathology, Topiwala National Medical College and Bai Yamunabai Laxman Nair Hospital, Mumbai, Maharashtra, India.

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.

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Author Biography

Sunil Pawar, Department of Gastroenterology, Topiwala National Medical College and Bai Yamunabai Laxman Nair Hospital, Mumbai, Maharashtra

Senior resident

Department of Gastroenterology

Published
2015-11-05
Section
Case Reports
Keywords:
Congenital hepatic fibrosis, retinitis pigmentosa, esophageal varices.
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How to Cite
Pawar, S., Zanwar, V., Mohite, A., Surude, R., Rathi, P., & Balasubramani, M. (2015). A family of congenital hepatic fibrosis and atypical retinitis pigmentosa. Clinics and Practice, 5(4). https://doi.org/10.4081/cp.2015.792