[Hereditary neuropathy with liability to pressure palsy presenting with an acute inflammatory demyelinating polyneuropathy]

Rev Neurol (Paris). 2004 Dec;160(12):1203-6. doi: 10.1016/s0035-3787(04)71168-6.
[Article in French]


Introduction: Hereditary neuropathy with liability to pressure palsy (HNPP) is an autosomal dominant peripheral neuropathy characterized by compressive focal neuropathies and an underlying sensorimotor demyelinative polyneuropathy. It is usually caused by a 1.5 Mb deletion of the PMP22 gene (17p11.2).

Case report: We describe the case of a 31 year-old woman who presented with acute demyelinative peripheral polyneuropathy affecting the four limbs and elevated cerebrospinal fluid protein content a few days after a viral illness. Acute inflammatory demyelinating polyneuropathy (AIDP, Guillain-Barré syndrome) was suspected. However, electrophysiologic examination suggested HNPP and subsequent genetic testing was confirmatory.

Conclusion: This case demonstrates that HNPP can present in an acute manner, mimicking AIDP.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Acute Disease
  • Adult
  • Female
  • Guillain-Barre Syndrome / etiology*
  • Heredodegenerative Disorders, Nervous System / complications*
  • Heredodegenerative Disorders, Nervous System / diagnosis
  • Humans
  • Paralysis / complications
  • Polyneuropathies*
  • Pressure