Giant axonal neuropathy: a rare inherited neuropathy with simple clinical clues

BMJ Case Rep. 2014 Sep 12;2014:bcr2014204481. doi: 10.1136/bcr-2014-204481.

Abstract

Giant axonal neuropathy (GAN) is a rare hereditary neurodegenerative disorder characterised by accumulation of excess neurofilaments in the axons of peripheral and central nervous systems, which hampers signal transmission. It usually manifests in infancy and early childhood and is slowly progressive. Those affected with GAN have characteristic curly kinky hair, everted feet and a crouched gait, which suggest the diagnosis in most cases. We describe twin children who presented with difficulty in walking and an abnormal gait since they began walking; clinical clues such as hair changes led us to the final diagnosis.

Publication types

  • Case Reports
  • Twin Study

MeSH terms

  • Axons / ultrastructure
  • Biopsy
  • Brain / pathology*
  • Child
  • Diagnosis, Differential
  • Diseases in Twins / diagnosis
  • Diseases in Twins / genetics*
  • Fatal Outcome
  • Female
  • Giant Axonal Neuropathy / diagnosis
  • Giant Axonal Neuropathy / genetics*
  • Humans
  • Immunohistochemistry
  • Magnetic Resonance Imaging
  • Male
  • Microscopy, Electron