Two Cases of Progressive Myoclonus Epilepsy due to Gaucher's Disease, Type 3
Journal of the Korean Neurological Association
;
: 420-426, 1999.
Artigo
em Coreano
| 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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Convulsões
/
Pele
/
Biópsia
/
Doenças Cerebelares
/
Beta-Glucosidase
/
Epilepsias Mioclônicas Progressivas
/
Demência
/
Fibroblastos
/
Doença de Gaucher
/
Fígado
Limite:
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Neurological Association
Ano de publicação:
1999
Tipo de documento:
Artigo
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