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. 1975 Sep;38(9):849–854. doi: 10.1136/jnnp.38.9.849

Progressive myoclonic epilepsy due to Gaucher's disease in an adult.

J O King
PMCID: PMC492113  PMID: 1185223

Abstract

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.

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Selected References

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