Chanarin-Dorfman syndrome: a novel mutation in a Turkish girl

摘要

Chanarin-Dorfman syndrome (CDS) is an autosomal recessive disorder, characterized by intracellular accumulation of lipid droplets in most tissues. It is very difficult to find a correlation between the phenotypic and genotypic features due to the occurrence of novel ABHD5 [alpha/beta hydrolase domain-containing protein-5; originally called CGI-58 (comparative gene identification-58)] mutations and the fact that there are only a few cases in the literature. The protein encoded by this gene is a cofactor for adipose triglyceride lipase (ATGL), which promotes the catabolism of stored fat. The clinical phenotype involves multiple organs and systems. Ichthyosis, nonbullous congenital ichthyosiform erythroderma and cytoplasmic accumulation of lipid droplets in granulocytes (Jordans' bodies) are always present. Peripheral blood smear is an easy method for diagnosing CDS; its use can also avoid unnecessary further testing. Herein, we report a patient with a homozygous mutation in ABHD5 that has never previously been described. Moreover, the case was diagnosed as Chanarin-Dorfman syndrome with only a peripheral blood smear.