A case of infantile Alexander disease diagnosed by magnetic resonance imaging and genetic analysis.
Brain Dev
; 29(8): 525-8, 2007 Sep.
Article
in 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.
Search on Google
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Brain
/
Magnetic Resonance Imaging
/
Alexander Disease
/
Glial Fibrillary Acidic Protein
Type of study:
Diagnostic_studies
/
Etiology_studies
/
Prognostic_studies
Limits:
Humans
/
Infant
/
Male
/
Newborn
Language:
En
Journal:
Brain Dev
Year:
2007
Document type:
Article
Affiliation country:
Japan