Hereditary neuropathy with liability to pressure palsies: case report and discussion

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.

Fig. 1

a This low-power magnification photomicrograph of an axial section of a nerve shows scattered large myelinated fibers that have thickened myelin sheaths representing tomaculae (reprinted from Pathology of Peripheral Nerves, 2001, page 116, Chap 7, J.M. Schroeder, Figure 101a, copyright Springer, Heidelberg, with kind permission of Springer Science and Business Media). b This high-power magnification photomicrograph of the same nerve in a shows a detailed view of a tomaculous fiber with marked thickening of the myelin sheath and narrowing of the axonal cross-sectional area (×600 magnification, reprinted from Pathology of Peripheral Nerves, 2001, page 116, Chap 7, J.M. Schroeder, Figure 101b, copyright Springer, Heidelberg, with kind permission of Springer Science and Business Media). c These low-power magnification photomicrographs of teased fiber preparations of isolated nerve fibers show discontinuous tomaculous distentions mainly localized at paranodal regions (×140 magnification, reprinted from Pathology of Peripheral Nerves, 2001, page 116, Chap 7, J.M. Schroeder, Figure 101c–f, copyright Springer, Heidelberg, with kind permission of Springer Science and Business Media)

Fig. 2

a This axial knee MRI of a patient with Charcot-Marie-Tooth disease demonstrates diffuse enlargement of the tibial nerve (long arrow) and common peroneal nerve (short arrow). b This axial knee MRI demonstrates a normal tibial nerve (long arrow) and common peroneal nerve (short arrow)