A novel ABHD5 mutation in two Chanarin Dorfman siblings with severe and heterogeneous clinical phenotype

Chanarin Dorfman Syndrome is a rare autosomal recessive disorder, characterized by triacylglycerol (TG) accumulation in lipid droplets (LDs) within different tissues including skin, liver, skeletal muscle, bone marrow, eyes, ears, and central nervous system. Here, we describe a novel ABHD5 frameshift mutation, associated with a severe manifestation of CDS. We report a severe multisystemic involvement in two patients, and an unusual neurological manifestation in one of them. In CDS, as well as in other genetic disorders, the genotype–phenotype correlation cannot completely explain clinical variability.