Coexistence of two chronic neuropathies in a young child: Charcot-Marie-Tooth disease type 1A and chronic inflammatory demyelinating polyneuropathy

Muscle Nerve. 2010 Oct;42(4):598-600. doi: 10.1002/mus.21753.


We report an 18-month-old Charcot-Marie-Tooth type 1A (CMT1A) patient who developed a rapid-onset neuropathy, with proximal and distal weakness, and non-uniform nerve conduction studies. The neuropathy responded well to immunomodulation, confirming the coexistence of an inherited and an inflammatory neuropathy. Unexpected clinical and/or electrophysiological manifestations in CMT1A patients should alert clinicians to concomitant inflammatory neuropathy. In addition, this association raises reflections about disease mechanism in CMT1A.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Action Potentials
  • Charcot-Marie-Tooth Disease / complications*
  • Charcot-Marie-Tooth Disease / physiopathology
  • Charcot-Marie-Tooth Disease / therapy
  • Child, Preschool
  • Chromosomes, Human, Pair 17 / genetics
  • Chronic Disease
  • Disability Evaluation
  • Drug Administration Schedule
  • Female
  • Gene Duplication
  • Humans
  • Immunoglobulins, Intravenous / administration & dosage
  • Immunomodulation
  • Muscle, Skeletal / physiopathology
  • Neural Conduction
  • Polyradiculoneuropathy, Chronic Inflammatory Demyelinating / complications*
  • Polyradiculoneuropathy, Chronic Inflammatory Demyelinating / physiopathology
  • Polyradiculoneuropathy, Chronic Inflammatory Demyelinating / therapy
  • Sensory Receptor Cells
  • Treatment Outcome


  • Immunoglobulins, Intravenous