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.
