Alexander disease in an 8-yr-old: Distinctive imaging
The present case has been published in the journal Neurology.

An 8-year-boy, born to nonconsanguineous parents, presented with a history of 2 unprovoked generalized seizures in the preceding 5 years. The examination was unremarkable. An awake EEG showed occasional bifrontal sharps.

Based on the MRI brain and the detection of a pathogenic variant1 (c.262C>T[p.Arg88Cys], exon 1) on GFAP gene sequencing, a diagnosis of Alexander disease was confirmed. The child remained asymptomatic during a 3-year follow-up period.

Alexander disease is an astrogliopathy, characterized by megalencephaly, pyramidal signs, progressive psychomotor retardation, ataxia, pseudobulbar signs, and seizures. However, a rare patient may be paucisymptomatic for several years. The imaging findings are distinctive and allow for directed genetic testing and confirmation.