Hereditary neuropathy with liability to pressure palsy: fulminant development with axonal loss during military training

J Neurol Neurosurg Psychiatry. 2004 Nov;75(11):1629-31. doi: 10.1136/jnnp.2003.029314.

Abstract

Hereditary neuropathy with liability to pressure palsy (HNPP) is characterised by recurrent mononeuropathies following minor trauma. We describe a case of fulminant HNPP beginning on the first day of military physical training. Protracted weakness, muscle atrophy, hand contractures, and multifocal sensory loss developed during a further three weeks of basic training. Nerve conduction changes were typical of HNPP, but without segmental slowing. Electromyographically, there was prominent acute denervation in muscles of the hands and right shoulder. Sural nerve biopsy demonstrated tomaculae and remyelination. Genetic testing revealed PMP-22 gene deletion. This case report demonstrates that HNPP can present with rapidly progressive peripheral nerve dysfunction and electrophysiological evidence of focal axonal loss.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Axons / pathology
  • Biopsy
  • Diagnosis, Differential
  • Diffuse Axonal Injury / diagnosis*
  • Diffuse Axonal Injury / genetics
  • Female
  • Heredodegenerative Disorders, Nervous System / diagnosis*
  • Heredodegenerative Disorders, Nervous System / genetics
  • Humans
  • Military Personnel*
  • Muscle, Skeletal / innervation
  • Muscle, Skeletal / pathology
  • Myelin Proteins / genetics
  • Myelin Sheath / pathology
  • Nerve Compression Syndromes / diagnosis*
  • Nerve Compression Syndromes / genetics
  • Neurologic Examination
  • Paralysis / diagnosis*
  • Paralysis / genetics
  • Peripheral Nervous System Diseases / diagnosis*
  • Peripheral Nervous System Diseases / genetics
  • Physical Education and Training*
  • Retrograde Degeneration / diagnosis
  • Retrograde Degeneration / genetics
  • Sural Nerve / pathology

Substances

  • Myelin Proteins
  • PMP22 protein, human