Neuro-ophthalmic, radiographic, and pathologic manifestations of adult-onset Alexander disease

Arch Ophthalmol. 1999 Feb;117(2):265-7. doi: 10.1001/archopht.117.2.265.

Abstract

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biopsy, Needle
  • Brain / pathology*
  • Brain Diseases / diagnosis*
  • Brain Diseases / pathology
  • Demyelinating Diseases / diagnosis*
  • Demyelinating Diseases / pathology
  • Electrooculography
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Middle Aged
  • Nystagmus, Optokinetic
  • Nystagmus, Pathologic / diagnosis*