J Korean Neurol Assoc.  1999 May;17(3):420-426.

Two Cases of Progressive Myoclonus Epilepsy due to Gaucher's Disease, Type 3

Affiliations
  • 1Department of Neurology, Pocheon CHA University College of Medicine, Pundang CHA General Hospital, Korea.

Abstract

Gaucher's disease is an autosomal recessive disorder caused by a deficiency of beta-glucosidase (glucocerebrosidase) which results in an accumulation of glucocerebroside in various organs and tissues. Type 3 (juvenile or subacute neuro-pathic) Gaucher's disease, presented here as progressive myoclonus epilepsy, occurs more rarely than type 1 (adult or nonneuropathic) or type 2 (infantile or neuropathic) Gaucher's disease. Two patients (brother and sister) with type 3 Gaucher's disease had or was expected to develop typical features of progressive myoclonus epilepsy: myoclonus, seizures, dementia, and cerebellar dysfunction. One of them showed Gaucher cells in a liver biopsy specimen and decreased beta-glucosidase activity (14% of normal) in the cultured skin fibroblasts, which confirmed the clinical diagno-sis of type 3 Gaucher's disease.

Keyword

Gaucher's disease; progressive myoclonus epilepsy; beta-glucosidase

MeSH Terms

beta-Glucosidase
Biopsy
Cerebellar Diseases
Dementia
Fibroblasts
Gaucher Disease*
Humans
Liver
Myoclonic Epilepsies, Progressive*
Myoclonus
Seizures
Skin
beta-Glucosidase
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