PT  - JOURNAL ARTICLE
AU  - King, J O
TI  - Progressive myoclonic epilepsy due to Gaucher's disease in an adult.
AID  - 10.1136/jnnp.38.9.849
DP  - 1975 Sep 01
TA  - Journal of Neurology, Neurosurgery & Psychiatry
PG  - 849--854
VI  - 38
IP  - 9
4099  - http://jnnp.bmj.com/content/38/9/849.short
4100  - http://jnnp.bmj.com/content/38/9/849.full
SO  - J Neurol Neurosurg Psychiatry1975 Sep 01; 38
AB  - 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.