Chanarin-Dorfman Syndrome: A Case Report


Akbulut U. E., Kalkan T., Isik I. A., Atalay A.

GAZI MEDICAL JOURNAL, vol.32, no.1, pp.123-124, 2021 (ESCI) identifier identifier

  • Publication Type: Article / Article
  • Volume: 32 Issue: 1
  • Publication Date: 2021
  • Doi Number: 10.12996/gmj.2021.25
  • Journal Name: GAZI MEDICAL JOURNAL
  • Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus, Academic Search Premier
  • Page Numbers: pp.123-124
  • Keywords: Chanarin-Dorfman syndrome, Ichthyosis, Jordan anomaly, hypertrophic cardiomyopathy, ABHD5 gene, LIPID STORAGE DISEASE
  • Dokuz Eylül University Affiliated: No

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.