Hereditary neuropathy with liability to pressure palsies: case report and discussion. Academic Article uri icon

Overview

abstract

  • Hereditary neuropathy with liability to pressure palsies (HNPP) is an uncommon diagnosis that should be considered in patients with multiple compressive neuropathies. We present the case of a woman who presented with bilateral hand numbness and weakness. Electrodiagnostic testing revealed bilateral carpal tunnel syndrome, bilateral ulnar neuropathy at the elbow, left peroneal neuropathy at the fibular head, and a primarily demyelinating generalized sensorimotor neuropathy. Subsequent genetic testing identified a deletion at chromosome 17p11.2 to confirm the diagnosis of HNPP. Treatment of this largely self-limiting disease is controversial, and this patient suffered minimal disability with treatment including splinting and surgical releases.

publication date

  • September 1, 2007

Identity

PubMed Central ID

  • PMC2504259

Scopus Document Identifier

  • 34848843040

Digital Object Identifier (DOI)

  • 10.1002/(SICI)1097-4598(199606)19:6<770::AID-MUS13>3.0.CO;2-P

PubMed ID

  • 18751796

Additional Document Info

volume

  • 3

issue

  • 2