Giant axonal neuropathy: MRS findings.
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.
Alkan
Alpay
A
Department of Radiology, Turgut Ozal Medical Center, Inonu University School of Medicine, 44069 Malatya, Turkey. aalkan@inonu.edu.tr
Kutlu
Ramazan
R
Sigirci
Ahmet
A
Baysal
Tamer
T
Altinok
Tayfun
T
Yakinci
Cengiz
C
D001921:Brain / Q000378:metabolism*; D001923:Brain Chemistry; D002648:Child; D015417:Hereditary Sensory and Motor Neuropathy / Q000378:metabolism*; D006801:Humans; D009682:Magnetic Resonance Spectroscopy; D008297:Male