Comparative neuroimaging with pathologic correlates in Alexander's disease

We describe a case of pathologically confirmed Alexander's disease in which serial cranial ultrasound studies demonstrated unique findings of enlarging subependymal cysts with evolving periventricular hyperechogenicity. Computed tomographic scan of the head showed low attenuation of the periventricular white matter and centrum semiovale. Magnetic resonance imaging (MRI) demonstrated diffuse, confluent high signal predominantly in frontal white matter. These imaging modalities, particularly cranial ultrasound and MRI, may be useful tools in the diagnostic evaluation of children with degenerative neurologic disease, megalencephaly, and suspected Alexander's disease.