Chanarin-Dorfman Syndrome: A Case Report

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

GAZI MEDICAL JOURNAL, cilt.32, sa.1, ss.123-124, 2021 (ESCI) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 32 Sayı: 1
  • Basım Tarihi: 2021
  • Doi Numarası: 10.12996/gmj.2021.25
  • Dergi Adı: GAZI MEDICAL JOURNAL
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, Academic Search Premier
  • Sayfa Sayıları: ss.123-124
  • Anahtar Kelimeler: Chanarin-Dorfman syndrome, Ichthyosis, Jordan anomaly, hypertrophic cardiomyopathy, ABHD5 gene, LIPID STORAGE DISEASE
  • Dokuz Eylül Üniversitesi Adresli: Hayır

Özet

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.