Giant axonal neuropathy

J Child Neurol. 2015 Jun;30(7):912-5. doi: 10.1177/0883073814547721. Epub 2014 Sep 11.


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.

Keywords: Frizzy hair; Giant axonal neuropathy; Leukoencephalopathy.

Publication types

  • Case Reports

MeSH terms

  • Brain / pathology
  • Child
  • Diagnosis, Differential
  • Giant Axonal Neuropathy / diagnosis
  • Giant Axonal Neuropathy / pathology*
  • Giant Axonal Neuropathy / physiopathology
  • Hair / pathology
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Microscopy, Electron
  • Sural Nerve / ultrastructure