J Electrodiagn Neuromuscul Dis.  2021 Apr;23(1):15-19. 10.18214/jend.2020.00118.

Atypical Presentation of Hereditary Neuropathy with Liability to Pressure Palsy: A Case Report

• Chung HS
• Shin HD
• Lee SH

• KMID: 2526168
• DOI: http://doi.org/10.18214/jend.2020.00118

Abstract

Hereditary neuropathy with liability to pressure palsy (HNPP) is an autosomal dominant peripheral nerve disorder that typically presents clinically as recurrent painless numbness and weakness at the entrapment site or areas susceptible to pressure. Less commonly, the disorder may clinically present as progressive polyneuropathy, chronic polyneuropathy, Charco–Marie–Tooth disease-like symptoms, or chronic inflammatory demyelinating polyneuropathy-like disorder. One case has been reported in which HNPP presented as progressive muscular atrophy in old age. Herein, we report a late-onset HNPP patient who presented with slowly progressing lower motor neuron–predominant motor neuron disease, which resulted in death due to bulbar dysfunction 7 years post-diagnosis. Therefore, we propose that the clinical spectrum of HNPP may be broader than current reports suggest.

Keyword

Hereditary neuropathy with liability to pressure palsies; Lower motor neuron; Progressive muscular atrophy