Chanarin-Dorfman Syndrome: A Case Report

Authors

  • Ulas Emre Akbulut Kanuni Eğitim ve Araştırma Hastanesi Gastroenteroloji, Hepatoloji ve Beslenme Kliniği
  • Tarkan Kalkan Dept. of Medical Genetics, University of Health Sciences, Antalya Education and Research Hospital, Antalya, Turkey
  • Ishak Abdurrahman Isik Dept. of Pediatric Gastroenterology Hepatology and Nutrition, University of Health Sciences, Antalya Education and Research Hospital, Antalya, Turkey
  • Atike Atalay Dept. of Pediatric Gastroenterology Hepatology and Nutrition, University of Health Sciences, Antalya Education and Research Hospital, Antalya, Turkey

Abstract

Chanarin-Dorfman syndrome is a multisystem inherited metabolic disorder associated with congenital ichthyosis and accumulation of lipid droplets in various types of cells. Mutation of ABHD5/CG158 gene in the short arm of the 3rd chromosome is responsible from the main metabolic defect. Clinically, the disease is presented with ichthyosis, hearing loss, hepatomegaly, splenomegaly, cirrhosis, cataract, keratopathy, myopathy, and mental retardation. Here we present a case of Chanarin-Dorfman syndrome in a 2 years girl with who had ichthyosis, elevation of liver enzymes, hepatomegaly and mutation of ABHD5.

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Published

2020-12-12