Progressive Myoclonic Epilepsy Due to Gaucher's Disease in an Adult

Overview

Journal J Neurol Neurosurg Psychiatry

Publisher BMJ Publishing Group

Specialties Neurology
Neurosurgery
Psychiatry

Date 1975 Sep 1

PMID 1185223

Citations 14

Authors

J O King

Affiliations

Soon will be listed here.

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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Cauda equina syndrome in a patient diagnosed with type 1 Gaucher disease: a rare case.

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Genetics of inherited human epilepsies.

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Eye movement impairment recovery in a Gaucher patient treated with miglustat.

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'Non-neuronopathic' Gaucher disease reconsidered. Prevalence of neurological manifestations in a Dutch cohort of type I Gaucher disease patients and a systematic review of the literature.

Biegstraaten M, van Schaik I, Aerts J, Hollak C J Inherit Metab Dis. 2008; 31(3):337-49.

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