MRS findings in a patient with juvenile-onset Alexander's leukodystrophy

J La State Med Soc. 2013 Jan-Feb;165(1):14-7.

Abstract

Alexander's leukodystrophy is a rare cerebral white matter disorder with an onset that can be infantile, juvenile, or occur in the adult years. It is thought to be demyelinative, but the pathogenesis is ill-defined. We report a 24-year-old woman with juvenile-onset Alexander disease, of 12 years duration, who underwent magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) serially as part of her care. The patient's latest MRI showed periventricular-increased signal intensity on T2 and fluid attenuation and inversion recovery sequences, which appeared stable when compared to her first study seven years ago. MRS revealed an elevated choline/creatine ratio with relative suppression of the n-acetyl aspartate peak, also similar to her previous MRS findings. MRS also showed elevation of myoinositol levels, best demonstrated with the short echo-time spectra. These findings support the primarily demyelinative characteristics of this leukodystrophy and may provide a surrogate marker of disease progression, as well as a potential response to therapeutic intervention when this becomes available.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Alexander Disease / diagnosis*
  • Alexander Disease / physiopathology*
  • Black or African American
  • Brain / physiopathology
  • Female
  • Humans
  • Magnetic Resonance Imaging

Supplementary concepts

  • Alexanders leukodystrophy