Progressive myoclonic epilepsy due to Gaucher's disease in an adult.
A 39 year old Jewish male with a 22 year history of progressive myoclonic epilepsy was found to have Gaucher cells in his sternal bone marrow. The diagnosis of Gaucher's disease was confirmed by the demonstration of beta-glucosidase deficiency in fibroblasts. Although neurological involvement is extremely rare in adults with Gaucher's disease, this disease is another lipidosis which should be considered in patients with progressive myoclonic epilepsy.
D000328:Adult; D001921:Brain / Q000503:physiopathology; D005071:Evoked Potentials; D005776:Gaucher Disease / Q000150:complications* / Q000503:physiopathology; D006801:Humans; D008297:Male; D013036:Spasms, Infantile / Q000209:etiology* / Q000503:physiopathology