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01-09-2007 | Electrodiagnostic Corner

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

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

Published in: HSS Journal ® | Issue 2/2007

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.

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Title: Hereditary Neuropathy with Liability to Pressure Palsies: Case Report and Discussion
Authors: Marc J. Grossman, MD
Joseph Feinberg, MD, MS
Edward F. DiCarlo, MD
Sherri B. Birchansky, MD
Scott W. Wolfe, MD
Publication date: 01-09-2007
Publisher: Springer-Verlag
Published in: HSS Journal ® / Issue 2/2007
Print ISSN: 1556-3316
Electronic ISSN: 1556-3324
DOI: https://doi.org/10.1007/s11420-007-9056-1

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

Abstract

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