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<records>
  <record>
    <language>eng</language>
    <publisher>Science and Education Publishing</publisher>
    <journalTitle>American Journal of Medical Case Reports</journalTitle>
    <eissn>2374-216X</eissn>
    <publicationDate>2020-07-16</publicationDate>
    <volume>8</volume>
    <issue>11</issue>
    <startPage>386</startPage>
    <endPage>388</endPage>
    <doi>10.12691/ajmcr-8-11-2</doi>
    <publisherRecordId>AJMCR20208112</publisherRecordId>
    <documentType>article</documentType>
    <title language="eng">Hereditary Neuropathy with Liability to Pressure Palsies: A Case Report</title>
    <authors>
      <author>
        <name>Mousa Suhail Abu Ghoush</name>
        <email>mousasuhail@hotmail.com</email>
        <affiliationId>1</affiliationId>
      </author>
    </authors>
    <affiliationsList>
      <affiliationName affiliationId="1">Zayed Military Hospital, Internal Medicine, Abu Dhabi, United Arab Emirates</affiliationName>
    </affiliationsList>
    <abstract language="eng">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 identi?ed heterogeneous deletion of the PMP22 gene to con?rm 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.</abstract>
    <fullTextUrl format="pdf">http://pubs.sciepub.com/ajmcr/8/11/2/ajmcr-8-11-2.pdf</fullTextUrl>
    <keywords language="eng">
      <keyword>hereditary neuropathy with liability to pressure palsies</keyword>
      <keyword>compressive neuropathies</keyword>
      <keyword>genetic testing</keyword>
    </keywords>
  </record>
</records>