Two Cases of Pelizaeus-Merzbacher Disease
Journal of the Korean Pediatric Society
;
: 561-566, 2000.
Artigo
em Coreano
| WPRIM
| ID: wpr-175888
ABSTRACT
Pelizaeus-Merzbacher disease (PMD) is a rare sudanophilic leukodystrophy with a reduced number of mature oligodendrocytes as well as diffuse central nervous system hypomyelination (dysmyelination) due to abnormal synthesis of proteolipid protein. PMD is characterized with pendular nystagmus, stridor, delay in psychomotor development, hypotonia, ataxia, athetosis and extrapyramidal signs. Abnormal high signal intensity is shown in the entire white matter of cerebrum and cerebellum at early stage by T2-weighted magnetic resonance imaging (MRI). We report two cases of PMD diagnosed with characteristic clinical manifestations and brain MRI findings.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Ataxia
/
Atetose
/
Encéfalo
/
Imageamento por Ressonância Magnética
/
Sistema Nervoso Central
/
Cerebelo
/
Oligodendroglia
/
Sons Respiratórios
/
Nistagmo Patológico
/
Doença de Pelizaeus-Merzbacher
Idioma:
Coreano
Revista:
Journal of the Korean Pediatric Society
Ano de publicação:
2000
Tipo de documento:
Artigo
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