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

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


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

Topics: Electrodiagnostic Corner
Publisher: Springer-Verlag
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Provided by: PubMed Central
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