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

HSS Journal

Image - Photo of Joseph H. Feinberg, MD
Joseph H. Feinberg, MD
Medical Director, Center for Brachial Plexus and Traumatic Nerve Injury
Attending Physiatrist, Hospital for Special Surgery
Image - Photo of Edward F. DiCarlo, MD
Edward F. DiCarlo, MD

Attending Pathologist, Hospital for Special Surgery
Professor of Clinical Pathology and Laboratory Medicine, Weill Cornell Medical College

Image - Photo of Scott W. Wolfe, MD
Scott W. Wolfe, MD
Attending Orthopedic Surgeon, Hospital for Special Surgery
Professor of Orthopedic Surgery, Hand Surgery and Nerve Repair, Weill Cornell Medical College

Marc J. Grossman, MD
Department of Physiatry, Hospital for Special Surgery

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.

This article appears in HSS Journal: Volume 3, Number 2.
View the full article at springerlink.com.

About the HSS Journal
HSS Journal, an academic peer-reviewed journal, is published twice a year, February and September, and features articles by internal faculty and HSS alumni that present current research and clinical work in the field of musculoskeletal medicine performed at HSS, including research articles, surgical procedures, and case reports.

 

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