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PMID: 1185223 Published · ppublish English Case Reports Journal Article

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

Journal of neurology, neurosurgery, and psychiatry ·Vol. 38 ·No. 9 ·1975-09-00 ·Pages 849-54

King JO

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.

MeSH Terms
Adult Brain/physiopathology Evoked Potentials Gaucher Disease/complications,physiopathology Humans Male Spasms, Infantile/etiology,physiopathology
Authors & Affiliations
1 authors, click to expand affiliations / ORCID
King J O
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22 references, click to expand
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Article Info
Journal
Journal of neurology, neurosurgery, and psychiatry
Abbr.
J Neurol Neurosurg Psychiatry
ISSN
0022-3050
DOI
10.1136/jnnp.38.9.849
Published
1975-09-00
Pages
849-54
Language
English
Region
England
NLM ID
2985191R
PMCID
PMC492113
Subset
IM
External Links
PubMed source DOI: 10.1136/jnnp.38.9.849 PMC Full Text View journal details
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