HSS Journal

, Volume 3, Issue 2, pp 208–212

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

Authors

    • Department of PhysiatryHospital for Special Surgery
  • Joseph Feinberg
    • Department of PhysiatryHospital for Special Surgery
  • Edward F. DiCarlo
    • Department of Laboratory MedicineHospital for Special Surgery
  • Sherri B. Birchansky
    • Department of Radiology and ImagingHospital for Special Surgery
  • Scott W. Wolfe
    • Department of Orthopedic SurgeryHospital for Special Surgery
Electrodiagnostic Corner

DOI: 10.1007/s11420-007-9056-1

Cite this article as:
Grossman, M.J., Feinberg, J., DiCarlo, E.F. et al. HSS Jrnl (2007) 3: 208. doi:10.1007/s11420-007-9056-1

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

Copyright information

© Hospital for Special Surgery 2007