Two Cases of Progressive Myoclonus Epilepsy due to Gaucher's Disease, Type 3.
- Author:
Kyoung HEO
1
;
Jong Su YE
;
Sang Jin KIM
;
Sung Eun KIM
;
Oeung Kyu KIM
;
Hyo Kun CHO
;
Chan Hwan KIM
;
Hyon Ju KIM
Author Information
1. Department of Neurology, Pocheon CHA University College of Medicine, Pundang CHA General Hospital, Korea.
- Publication Type:Case Report
- Keywords:
Gaucher's disease;
progressive myoclonus epilepsy;
beta-glucosidase
- MeSH:
beta-Glucosidase;
Biopsy;
Cerebellar Diseases;
Dementia;
Fibroblasts;
Gaucher Disease*;
Humans;
Liver;
Myoclonic Epilepsies, Progressive*;
Myoclonus;
Seizures;
Skin
- From:Journal of the Korean Neurological Association
1999;17(3):420-426
- CountryRepublic of Korea
- Language:Korean
-
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.
