Two Cases of Progressive Myoclonus Epilepsy due to Gaucher's Disease, Type 3
Journal of the Korean Neurological Association
;
: 420-426, 1999.
Artículo
en 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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Convulsiones
/
Piel
/
Biopsia
/
Enfermedades Cerebelosas
/
Beta-Glucosidasa
/
Epilepsias Mioclónicas Progresivas
/
Demencia
/
Fibroblastos
/
Enfermedad de Gaucher
/
Hígado
Límite:
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Neurological Association
Año:
1999
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS