The clinical, radiologic, neurophysiologic, and pathologic findings in
10 children with histologically proven Alexander's disease are descri
bed, and the presence of two broad clinical subgroups is confirmed. Ma
crocephaly, regression, and seizures are found in the infantile form,
whereas bulbar signs predominate the so-called juvenile form. None of
the clinical or neurophysiologic findings is pathognomonic, and radiol
ogic features suggesting the diagnosis are not present in all cases. H
owever, the combination of abnormalities may suggest the diagnosis and
justify histologic confirmation.