MR Imaging of Fukuyama Congenital Muscular Dystrophy: A Case Report
Journal of the Korean Radiological Society
;
: 629-633, 2000.
Artigo
em Inglês
| WPRIM
| ID: wpr-49718
ABSTRACT
Fukuyama congenital muscular dystrophy is a genetic disease and common in Japan. The typical clinical features are hypotonia with an early infantile onset and severe developmental delay. The diagnosis is based on pathologic evidence of muscular dystrophy revealed by biopsy or an increased serum creatine kinase levels. Involvement of the brain is characterized by abnormal cerebral cortical dysplasia, cerebellar dysplasia, and white matter changes. We encountered a case of Fukuyama congenital muscular dystrophy in which brain MRI findings were typical, and present this case together with a review of the literature.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Biópsia
/
Encéfalo
/
Imageamento por Ressonância Magnética
/
Creatina Quinase
/
Diagnóstico
/
Malformações do Desenvolvimento Cortical
/
Síndrome de Walker-Warburg
/
Japão
/
Hipotonia Muscular
/
Distrofias Musculares
Tipo de estudo:
Estudo diagnóstico
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Journal of the Korean Radiological Society
Ano de publicação:
2000
Tipo de documento:
Artigo
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