Progressive Myoclonus Epilepsy Associated with Macular Cherry-Red Spots
Journal of the Korean Neurological Association
;
: 204-206, 2003.
Artigo
em Coreano
| WPRIM
| ID: wpr-109680
ABSTRACT
Myoclonus, generalized epilepsy, and progressive neurological decline characterize progressive myoclonus epilepsy. A 25-year-old woman was admitted for the evaluation of seizure, progressive myoclonus and ataxic gait. Her symptoms had developed since she was 13 years old. She did not have facial dysmorphism, hepatosplenomegaly, or dementia. Fundoscopic evaluation revealed cherry-red spots in both macular regions. Biochemical assays of hexosaminidase A, beta-galactosidase, and neuraminidase in leukocytes and urine mucopolysaccharides were free of any abnormality. The patient might have an unknown type of lysosomal storage disease.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Convulsões
/
Doenças por Armazenamento dos Lisossomos
/
Beta-Galactosidase
/
Epilepsia Generalizada
/
Epilepsias Mioclônicas Progressivas
/
Demência
/
Hexosaminidase A
/
Marcha
/
Glicosaminoglicanos
/
Leucócitos
Limite:
Adolescente
/
Adulto
/
Feminino
/
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Neurological Association
Ano de publicação:
2003
Tipo de documento:
Artigo
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