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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Grossman, M.J., Feinberg, J., DiCarlo, E.F. et al. Hereditary Neuropathy with Liability to Pressure Palsies: Case Report and Discussion. HSS Jrnl 3, 208–212 (2007). https://doi.org/10.1007/s11420-007-9056-1
- hereditary neuropathy with liability to pressure palsies
- compressive neuropathies
- carpal tunnel syndrome
- genetic testing