Electrodiagnostic Corner

HSS Journal

, Volume 3, Issue 2, pp 208-212

First online:

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

  • Marc J. GrossmanAffiliated withDepartment of Physiatry, Hospital for Special Surgery Email author 
  • , Joseph FeinbergAffiliated withDepartment of Physiatry, Hospital for Special Surgery
  • , Edward F. DiCarloAffiliated withDepartment of Laboratory Medicine, Hospital for Special Surgery
  • , Sherri B. BirchanskyAffiliated withDepartment of Radiology and Imaging, Hospital for Special Surgery
  • , Scott W. WolfeAffiliated withDepartment of Orthopedic Surgery, Hospital for Special Surgery

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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.

Key words

hereditary neuropathy with liability to pressure palsies electrodiagnostics compressive neuropathies carpal tunnel syndrome genetic testing tomaculae