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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.
Assuntos

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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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