Neutral Lipid Storage Disease with Ichthyosis, Chanarin-Dorfman Syndrome
Neutral lipid storage disease with ichthyosis, also called Chanarin-Dorfman syndrome, is a rare nonlysosomal inborn error of neutral lipid metabolism, characterized by an intracellular accumulation of triglyceride droplets in most tissues, including granulocytes and fibroblasts. Since the first reports, about 30 patients have been described, mostly from Mediterranean countries. The clinical phenotype involves multiple organs and systems. Ichthyosis is always present, and liver steatosis with hepatomegaly, muscle weakness, ataxia, neurosensory hearing loss, subcapsular cataracts, nystagmus, strabismus, and mental retardation are sometimes present. Muscle and hepatic enzymes are often found to be moderately elevated. Diagnosis is confirmed by a peripheral blood or bone marrow smear, which shows lipid droplets in granulocytes (Jordan’s anomaly). Electron microscopy shows multiple vacuoles in the cytoplasm, without a surrounding membrane. The disease has been demonstrated to be due to mutations in CGI-58 gene (Table 61.1), encoding a protein with homology to proteins of a large family characterized by an α/β hydrolase fold, which is an activator of the adipose triglyceride lipase ATGL.
KeywordsIchthyosis Lipid storage myopathy Jordan’s phenomenon Chanarin-Dorfman syndrome
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