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Published on: November 9, 2017
Giant axonal neuropathy
Kadambari Vijaykumar1, Parayil Sankaran Bindu2, Arun B Taly1
1Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India.
Abstract:
Giant axonal neuropathy is an autosomal recessive disorder of childhood with distinct morphological features. An 8-year-old boy presented with progressive walking difficulty and recurrent falls. Evaluation showed frizzy hair, characteristic facies, sensory motor neuropathy, and ataxia. Magnetic resonance imaging (MRI) showed bilateral symmetric white matter signal changes in the cerebellum and periventricular regions along with involvement of the posterior limb of the internal capsule. Sural nerve biopsy demonstrated giant axons with neurofilament accumulation. The clinicopathologic manifestations of giant axonal neuropathy are discussed along with the clinical and histologic differential diagnoses.
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