Alexander disease: a novel mutation in the glial fibrillary acidic protein gene with initial uncommon clinical and magnetic resonance imaging findings.

[alexander disease]

Alexander disease (AxD ) is a rare neurodegenerative disorder related to mutations in the glial fibrillary acidic protein gene . We report the case of a child with disease onset at the age of 3 months and a novel mutation in the glial fibrillary acidic protein gene . Peculiar aspects were initially atypical clinical and magnetic resonance imaging (MRI ) findings , which became typical during follow-up . The child was born after an uneventful pregnancy , presented initially only as a failure to thrive . The first MRI examination demonstrated obstructive hydrocephalus and cerebral white matter abnormalities (which were more prominent posteriorly ). During follow-up , her clinical picture became typical of AxD with macrocephaly and neurodevelopmental delay . Sequential MRI examinations showed frontal white matter involvement , together with exuberant forniceal lesions and areas of contrast enhancement .