Distinctive patterns of sonographic nerve enlargement in Charcot-Marie-Tooth type 1A and hereditary neuropathy with pressure palsies

Clin Neurophysiol. 2015 Jul;126(7):1413-20. doi: 10.1016/j.clinph.2014.08.026. Epub 2014 Oct 12.

Abstract

Objective: The extent of sonomorphologic differences of peripheral nerves between CMT and HNPP is unknown.

Methods: We recruited 9 patients with CMT-1A and 9 with HNPP. Patients underwent a standardized sonographic protocol, which evaluated nerve size and vascularization. We quantitatively assessed fascicle size and echogenicity.

Results: All 18 patients demonstrated nerve enlargement, but no increased vascularization. HNPP demonstrated larger nerves at sites of entrapment (median nerve at the carpal tunnel p=0.049, ulnar nerve at the sulcus p<0.001), greater swelling ratios of median (p<0.001), ulnar (p=0.017) and fibular nerve (p=0.005) than CMT-1A. CMT-1A revealed larger nerves proximal to sites of entrapment (median and fibular nerve, brachial plexus p<0.001). Nerve fascicles where larger (p<0.001) and more hypo-echogenic in CMT-1A. Nerve, fascicle size nor echogenicity correlated with age, gender or MRC sum-score.

Conclusions: Ultrasonography of nerves reveals specific phenotypes differentiating CMT-1A from HNPP. In CMT-1A enlargement of nerves and fascicles is multifocal among multiple nerves, whereas in HNPP nerve enlargement is restricted to sites of entrapment.

Significance: Our findings of specific sonomorphological phenotypes, differentiating CMT-1A from HNPP, may help to improve our pathophysiological insights in CMT and HNPP.

Keywords: Charcot–Marie–Tooth (CMT); Hereditary neuropathy with pressure palsies (HNPP); Nerve hypertrophy; Polyneuropathy; Sonography.

Publication types

  • Comparative Study

MeSH terms

  • Adult
  • Aged
  • Arthrogryposis / diagnosis*
  • Arthrogryposis / diagnostic imaging*
  • Brachial Plexus / diagnostic imaging
  • Charcot-Marie-Tooth Disease / diagnosis*
  • Charcot-Marie-Tooth Disease / diagnostic imaging*
  • Diagnosis, Differential
  • Female
  • Hereditary Sensory and Motor Neuropathy / diagnosis*
  • Hereditary Sensory and Motor Neuropathy / diagnostic imaging*
  • Humans
  • Hypertrophy
  • Male
  • Median Nerve / physiopathology
  • Middle Aged
  • Peripheral Nerves / diagnostic imaging*
  • Peroneal Nerve / diagnostic imaging
  • Phenotype*
  • Ulnar Nerve / diagnostic imaging
  • Ultrasonography / methods

Supplementary concepts

  • Tomaculous neuropathy