Neuro-ophthalmic, radiographic, and pathologic manifestations of adult-onset Alexander disease.
A 61-year-old woman had a 3-year history of imbalance. Eye movement studies revealed square-wave jerks, gaze paretic nystagmus, rebound nystagmus, impaired smooth pursuit, impaired optokinetic nystagmus, and abnormal fixation suppression of vestibular nystagmus. A brain magnetic resonance imaging study showed extensive areas of increased signal from the middle cerebellar peduncles and dentate nuclei, which enhanced with gadolinium. Histopathological analysis of a needle biopsy specimen of the left cerebellar peduncle revealed diffuse gliosis in the presence of symmetrically distributed areas of demyelination. There were associated Rosenthal fibers. Clinicopathologic correlation supported a diagnosis of Alexander disease. An adult patient with a history of progressive imbalance, ocular motility abnormalities consistent with cerebellar and/or brainstem dysfunction, and diffuse, symmetric hyperintense magnetic resonance imaging signals in brainstem and cerebellar white matter should suggest a diagnosis of adult-onset Alexander disease.
Department of Ophthalmology, Indiana University School of Medicine, Indianapolis 46202, USA.
A
A
Martidis
R D
RD
Yee
B
B
Azzarelli
J
J
Biller
D001707:Biopsy, Needle; D001921:Brain / Q000473:pathology*; D001927:Brain Diseases / Q000175:diagnosis* / Q000473:pathology; D003711:Demyelinating Diseases / Q000175:diagnosis* / Q000473:pathology; D004585:Electrooculography; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D017120:Nystagmus, Optokinetic; D009759:Nystagmus, Pathologic / Q000175:diagnosis*