Biopsy diagnosis of familial Alexander's disease

Pediatr Neurosurg. 1992;18(3):134-8. doi: 10.1159/000120652.


A 26-year-old woman presented with headaches, incoordination and a cerebellar mass (1982). The CT scan revealed dilated ventricles and a hypodense space-occupying lesion adjacent to the fourth ventricle. Neuronal loss, gliosis and masses of Rosenthal fibers were seen in biopsy. There was no evidence of neoplasm. A second biopsy 2 years later was similar to the original specimen. A diagnosis of Alexander's disease was suggested. Later that year the patient's 11-year-old brother manifested a clinical picture initially diagnosed as brainstem glioma, but whose biopsy was characteristic of Alexander's disease. There has been a gradual deterioration of these siblings over the past 6 years (1986-1991). No evidence of neoplasm has appeared.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Astrocytes / pathology*
  • Brain Diseases, Metabolic / genetics*
  • Brain Diseases, Metabolic / pathology
  • Child
  • Crystallins / analysis
  • Demyelinating Diseases / genetics*
  • Demyelinating Diseases / pathology
  • Female
  • Glial Fibrillary Acidic Protein / analysis
  • Gliosis / genetics*
  • Gliosis / pathology
  • Humans
  • Intermediate Filaments / ultrastructure
  • Magnetic Resonance Imaging
  • Male
  • Microscopy, Electron
  • Nerve Degeneration / genetics*
  • Nerve Degeneration / physiology
  • Tomography, X-Ray Computed


  • Crystallins
  • Glial Fibrillary Acidic Protein