Hereditary neuropathy with liability to pressure palsies: A case report

Kourosh Jafarnia, Michael J. Sullivan, David H. Hildreth

Research output: Contribution to journalArticle

2 Scopus citations

Abstract

Hereditary neuropathy with liability to pressure palsy is a rare autosomal dominant disorder characterized by multiple episodes of focal demyelinating neuropathies after minor trauma to peripheral nerves. It usually appears in early adulthood with recurrent attacks of pain, numbness, and muscular weakness along the distribution of the clinically affected nerve. Segmental demyelination and thickenings of the myelin sheath are the pathologic findings. Electrophysiologic studies show a nonuniform mild demyelinating neuropathy with prolonged distal latencies. Genetic tests are available to aid in diagnosis as molecular analysis has identified a deletion in the chromosome 17p11.2 in the majority of these patients. There is a paucity of information in the orthopaedic literature regarding hereditary neuropathy with liability to pressure palsy. A case report is presented of a patient with this disorder to promote awareness and recognition that this entity should be considered in patients with multiple nerve palsies.

Original languageEnglish (US)
Pages (from-to)253-255
Number of pages3
JournalClinical Orthopaedics and Related Research
Issue number385
DOIs
StatePublished - Jan 1 2001

ASJC Scopus subject areas

  • Surgery
  • Orthopedics and Sports Medicine

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