Giant axonal neuropathy: MRS findings


Alkan A. , KUTLU R., SIGIRCI A., BAYSAL T., ALTINOK T., YAKINCI C.

JOURNAL OF NEUROIMAGING, vol.13, no.4, pp.371-375, 2003 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 13 Issue: 4
  • Publication Date: 2003
  • Doi Number: 10.1177/1051228403254659
  • Title of Journal : JOURNAL OF NEUROIMAGING
  • Page Numbers: pp.371-375

Abstract

Giant axonal neuropathy (GAN) is a rare genetic disease of childhood involving the central and peripheral nervous systems. Axonal loss with several giant axons filled with neurofilaments is the main histopathological feature of peripheral nerve biopsies in this disease. Routine neuroimaging studies reveal diffuse hyperintensities in cerebral and cerebellar white matter. In this case report, the authors present the brain magnetic resonance spectroscopic features (normal N-acetylaspartate/creatine and increased choline/creatine and myoinositol/creatine ratios), which might indicate the absence of neuroaxonal loss and the presence of significant demyelination and glial proliferation in white matter, of an 11-year-old boy diagnosed with GAN.