A case of infantile Alexander disease diagnosed by magnetic resonance imaging and genetic analysis.
Brain Dev
; 29(8): 525-8, 2007 Sep.
Article
em En
| MEDLINE
| ID: mdl-17383133
ABSTRACT
We encountered a male infant with infantile Alexander disease presenting with megalencephaly and hydrocephalus as a neonate and subtle seizures at 3 months of age. At 6 months of age, bulbar paralysis appeared. Brain magnetic resonance imaging (MRI) showed abnormal findings with white matter involvement and a characteristic periventricular rim, satisfying the diagnostic criteria proposed by van der Knaap, except for MRI contrast. R239H mutation of glial fibrillary acidic protein gene was identified, representing a common cause of infantile-type Alexander disease.
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Base de dados:
MEDLINE
Assunto principal:
Encéfalo
/
Imageamento por Ressonância Magnética
/
Doença de Alexander
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Proteína Glial Fibrilar Ácida
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
/
Prognostic_studies
Limite:
Humans
/
Infant
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Male
/
Newborn
Idioma:
En
Ano de publicação:
2007
Tipo de documento:
Article