Tumor-like enlargement of the optic chiasm in an infant with Alexander disease

Brain Dev. 2009 Mar;31(3):244-7. doi: 10.1016/j.braindev.2008.05.005. Epub 2008 Jun 26.


We report a patient with infantile Alexander disease (AXD) due to the recurrent p.Arg79Cys GFAP mutation. In addition to typical AXD abnormalities, magnetic resonance imaging demonstrated a tumor-like lesion of the optic chiasm suggestive of a glioma. A transient papilloedema appeared during the follow-up and the lesion partially regressed despite a worsening of white matter involvement. Rare radiological and pathological tumor-like lesions have already been reported in AXD patients. This patient confirms that enlargement of the optic chiasm is a rare feature of AXD, possibly linked to abnormal astrocytic proliferation.

Publication types

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

MeSH terms

  • Alexander Disease / genetics
  • Alexander Disease / pathology*
  • Brain / abnormalities
  • Brain / pathology
  • Child, Preschool
  • DNA Mutational Analysis
  • Female
  • Glial Fibrillary Acidic Protein / genetics
  • Glioma / pathology*
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Mutation, Missense
  • Optic Chiasm / pathology*
  • Optic Nerve Neoplasms / pathology*
  • Papilledema / pathology


  • Glial Fibrillary Acidic Protein