Hereditary Neuropathy with Liability to Pressure Palsies

Case Report and Discussion

Grossman, Marc J. MD
Feinberg, Joseph MD, MS
DiCarlo, Edward F. MD
Birchansky, Sherri B. MD
Wolfe, Scott W. MD

Department of Physiatry, Hospital for Special Surgery, 535 East 70th Street, 10021, New York, NY, USA
Department of Laboratory Medicine, Hospital for Special Surgery, 535 East 70th Street, 10021, New York, NY, USA
Department of Radiology and Imaging, Hospital for Special Surgery, 535 East 70th Street, 10021, New York, NY, USA
Department of Orthopedic Surgery, Hospital for Special Surgery, 535 East 70th Street, 10021, New York, NY, USA

HSS Journal®: The Musculoskeletal Journal of Hospital for Special Surgery 3(2):p 208-212, September 2007. | DOI: 10.1007/s11420-007-9056-1

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.