Electrodiagnostic Corner: Hereditary Neuropathy with Liability to Pressure Palsies: Case Report and Discussion
HSS Journal
Associate Attending Physiatrist, Hospital for Special Surgery
Edward F. DiCarlo, MD
Associate Attending Pathologist, Hospital for Special Surgery
Associate Professor of Clinical Pathology, Weill Medical College of Cornell University
Sherri B. Birchansky, MD
Chief, Division of Neuroimaging, Radiology and Imaging,, Hospital for Special Surgery
Associate Attending Radiologist, Hospital for Special Surgery
Assistant Professor of Radiology, Weill Medical College of Cornell University
Scott W. Wolfe, MD
Attending Orthopedic Surgeon, Hospital for Special Surgery
Professor of Orthopedic Surgery, Weill Medical College of Cornell University
Clinical Director of Orthopedic Surgery, Hospital for Special Surgery
Chief, Hand Surgery, Hospital for Special Surgery
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.
posted 9/5/2007
