Atypical focal MRI lesions in a case of juvenile Alexander's disease

Ann Neurol. 2003 Jan;53(1):118-20. doi: 10.1002/ana.10382.


We present a juvenile case of Alexander's disease with atypical focal magnetic resonance imaging-detected lesions and elevated levels of lactate in cerebrospinal fluid. The diagnosis was based on the neuropathological finding of a diffuse accumulation of Rosenthal fibers within the brain and the spinal cord. The diagnosis was confirmed by detection of a mutation in exon 1 at nucleotide position 249 of glial fibrillary acidic protein cDNA, a finding previously reported in cases of infantile Alexander's disease.

Publication types

  • Case Reports

MeSH terms

  • Alexander Disease / genetics*
  • Alexander Disease / pathology*
  • Brain / pathology*
  • Child
  • Exons
  • Female
  • Glial Fibrillary Acidic Protein / genetics*
  • Humans
  • Magnetic Resonance Imaging*
  • Mutation
  • Spinal Cord / pathology


  • Glial Fibrillary Acidic Protein