Two Cases of Progressive Myoclonus Epilepsy due to Gaucher's Disease, Type 3
Journal of the Korean Neurological Association
;
: 420-426, 1999.
Article
in Korean
| WPRIM
| ID: wpr-8467
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Seizures
/
Skin
/
Biopsy
/
Cerebellar Diseases
/
Beta-Glucosidase
/
Myoclonic Epilepsies, Progressive
/
Dementia
/
Fibroblasts
/
Gaucher Disease
/
Liver
Limits:
Humans
Language:
Korean
Journal:
Journal of the Korean Neurological Association
Year:
1999
Type:
Article
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