Another Chanarin-Dorfman Syndrome (CDS) in an Egyptian Patient

Abstract

Abstract Introduction Chanarin–Dorfman syndrome is a very rare autosomal recessive syndrome caused by mutation in ABHD5 a cofactor for adipose triglyceride lipase resulting in intracellular accumulation of triacylglycerol in various body tissues. Several patients were previously reported from Egypt and middle East but still the diagnosis is missed for several years. Here we report another case with this syndrome and describe his journey to diagnosis. Case report A 4.4 year old boy, the fifth in order of birth of first cousin Egyptian parents presented to the Genetics Clinic because of abnormal scaling all over the body since birth. On examination, he had short stature, hepatomegaly, and generalized ichthyosis. His chest, heart and neurological examination showed no abnormalities. Ocular examination revealed refractive errors. Audiometry revealed hearing loss. Peripheral blood smear examination demonstrated cytoplasmic vacuoles within the neutrophils (Jordans bodies ) confirming the diagnosis of CDS. He had family history of sibling death at age of 2 day with extensive scaling overall the body. Conclusion CDS should be suspected in patients with congenital ichthyosis and hepatomegaly. Diagnosis is simple using blood smear to find Jordans bodies.