Abstract:
Giant axonal neuropathy is a rare autosomal recessive childhood
disorder characterized by a peripheral neuropathy and features
of central nervous system involvement. Magnetic resonance
imaging (MRI) of an 11-year-old boy with giant axonal neuropathy
revealed high signal intensity in the white matter of the
cerebrum and cerebellum on T2-weighted imaging. An apparent
diffusion coefficient map revealed increased apparent diffusion
coefficient values in the periventricular, deep, and cerebellar
white matter, basal ganglia, and thalamus. Increased apparent
diffusion coefficient values in distinct locations suggest
increased mobility of water molecules in the brain of a patient
with giant axonal neuropathy. This finding could indicate a
myelin disorder such as demyelination. Diffusion-weighted
imaging should be performed to reveal apparent diffusion coefficient changes and determine brain involvement in patients
with giant axonal neuropathy.
