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Article

Hereditary Neuropathy with Liability to Pressure Palsies: A Case Report

1Zayed Military Hospital, Internal Medicine, Abu Dhabi, United Arab Emirates


American Journal of Medical Case Reports. 2020, Vol. 8 No. 11, 386-388
DOI: 10.12691/ajmcr-8-11-2
Copyright © 2020 Science and Education Publishing

Cite this paper:
Mousa Suhail Abu Ghoush. Hereditary Neuropathy with Liability to Pressure Palsies: A Case Report. American Journal of Medical Case Reports. 2020; 8(11):386-388. doi: 10.12691/ajmcr-8-11-2.

Correspondence to: Mousa  Suhail Abu Ghoush, Zayed Military Hospital, Internal Medicine, Abu Dhabi, United Arab Emirates. Email: mousasuhail@hotmail.com

Abstract

Background: Hereditary neuropathy with liability to pressure palsies (HNPP) is an uncommon diagnosis that should be considered in patients with multiple compressive neuropathies. This case reports highlights a relatively rare neuropathy with genetic and occupational predisposition, probably first to be reported in the united arab emirates. Case Presentation: We present the case of a 41 years old male who presented with right hand numbness and weakness. Electrodiagnostic testing revealed multifocal neuropathy. Subsequent genetic testing identified heterogeneous deletion of the PMP22 gene to confirm the diagnosis of HNPP. Conclusions: Hereditary neuropathy with liability to pressure palsies can present as a multifocal neuropathy. Occupational history along with genetic testing plays a pivotal role to make the diagnosis.

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