HSS Journal

, Volume 3, Issue 2, pp 208–212 | Cite as

Hereditary Neuropathy with Liability to Pressure Palsies: Case Report and Discussion

  • Marc J. Grossman
  • Joseph Feinberg
  • Edward F. DiCarlo
  • Sherri B. Birchansky
  • Scott W. Wolfe
Electrodiagnostic Corner

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.

Key words

hereditary neuropathy with liability to pressure palsies electrodiagnostics compressive neuropathies carpal tunnel syndrome genetic testing tomaculae 

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Copyright information

© Hospital for Special Surgery 2007

Authors and Affiliations

  • Marc J. Grossman
    • 1
  • Joseph Feinberg
    • 1
  • Edward F. DiCarlo
    • 2
  • Sherri B. Birchansky
    • 3
  • Scott W. Wolfe
    • 4
  1. 1.Department of PhysiatryHospital for Special SurgeryNew YorkUSA
  2. 2.Department of Laboratory MedicineHospital for Special SurgeryNew YorkUSA
  3. 3.Department of Radiology and ImagingHospital for Special SurgeryNew YorkUSA
  4. 4.Department of Orthopedic SurgeryHospital for Special SurgeryNew YorkUSA

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