An Unusual Case of Hereditary Neuropathy With Liability to Pressure Palsy: A Diagnostic Challenge

Hereditary neuropathy with liability to pressure palsy (HNPP) is a genetic condition in which individuals develop recurrent nerve palsies due to nerve injury at susceptible anatomic sites. Because of its rarity, other diseases usually appear high in the differential list when the clinical presentati...

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Bibliographic Details
Published inCurēus (Palo Alto, CA) Vol. 15; no. 1; p. e33306
Main Authors Saurabh, Kumar, Ahmad, Reyaz
Format Journal Article
LanguageEnglish
Published United States Cureus Inc 03.01.2023
Subjects
Ankle
Case reports
Diabetes
Disease
Electromyography
Genetic counseling
Medical diagnosis
Mutation
Steroids
chronic inflammatory demyelinating polyneuropathy (cidp)
multifocal acquired demyelinating sensory and motor neuropathy (madsam)
neuropathy
hereditary neuropathy with liability to pressure palsy (hnpp)
atypical cidp
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Summary:Hereditary neuropathy with liability to pressure palsy (HNPP) is a genetic condition in which individuals develop recurrent nerve palsies due to nerve injury at susceptible anatomic sites. Because of its rarity, other diseases usually appear high in the differential list when the clinical presentation is suggestive. Here, we describe a case of HNPP initially thought of as radiculopathy and focal chronic inflammatory demyelinating polyneuropathy (CIDP). Only on close clinical examination, supportive electrodiagnostic tests, and recurrence with typical history, a diagnosis of HNPP was suspected and later confirmed by a genetic test.
ISSN:2168-8184
2168-8184
DOI:10.7759/cureus.33306