A family with tomaculous neuropathy mimicking Charcot-Marie-Tooth disease

Clin Neurol Neurosurg. 1990;92(3):289-94. doi: 10.1016/0303-8467(90)90037-6.


The appearance of Guillain-Barré syndrome in a 9-year-old girl led to the detection of a hereditary neuropathy in her family. This neuropathy showed clinical and electrophysiological characteristics of Charcot-Marie-Tooth disease. Only nerve biopsy performed in a sister of the proband allowed diagnosis of tomaculous neuropathy which presented unusual clinical, electrophysiological and bioptic aspects.

Publication types

  • Case Reports

MeSH terms

  • Biopsy
  • Charcot-Marie-Tooth Disease / diagnosis*
  • Child
  • Diagnosis, Differential
  • Electromyography
  • Female
  • Hereditary Sensory and Motor Neuropathy / complications
  • Hereditary Sensory and Motor Neuropathy / diagnosis*
  • Hereditary Sensory and Motor Neuropathy / physiopathology
  • Humans
  • Myelin Sheath / pathology
  • Neural Conduction
  • Pedigree
  • Polyradiculoneuropathy / complications