American Journal of Medical Case Reports
ISSN (Print): 2374-2151 ISSN (Online): 2374-216X Website: http://www.sciepub.com/journal/ajmcr Editor-in-chief: Samy, I. McFarlane
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American Journal of Medical Case Reports. 2020, 8(11), 386-388
DOI: 10.12691/ajmcr-8-11-2
Open AccessCase Report

Hereditary Neuropathy with Liability to Pressure Palsies: A Case Report

Mousa Suhail Abu Ghoush1,

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

Pub. Date: July 16, 2020

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

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.

Keywords:
hereditary neuropathy with liability to pressure palsies compressive neuropathies genetic testing

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References:

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