Menkes disease: case report of an uncommon presentation with white matter lesions
Arq. neuropsiquiatr
; Arq. neuropsiquiatr;59(1): 125-127, Mar. 2001. ilus
Article
em En
| LILACS
| ID: lil-284253
Biblioteca responsável:
BR1.1
ABSTRACT
Menkes disease is a rare X-linked disorder related to a defect in the copper metabolism. According to the current literature, the most frequent neuroimaging findings are cortical atrophy, chronic subdural effusion or hygroma, and vascular abnormalities. White matter lesions may be present before other features of the disease and may evolve into atrophy. We hereby report a case of Menkes disease with typical history and progression, and an early phase imaging study with important white matter abnormalities, which could have lead to diagnostic difficulties
Texto completo:
1
Coleções:
01-internacional
Base de dados:
LILACS
Assunto principal:
Encéfalo
/
Síndrome dos Cabelos Torcidos
Limite:
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Arq. neuropsiquiatr
Assunto da revista:
NEUROLOGIA
/
PSIQUIATRIA
Ano de publicação:
2001
Tipo de documento:
Article
País de afiliação:
Brasil
País de publicação:
Brasil