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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...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9894645/ https://www.ncbi.nlm.nih.gov/pubmed/36741649 http://dx.doi.org/10.7759/cureus.33306 |
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author | Saurabh, Kumar Ahmad, Reyaz |
author_facet | Saurabh, Kumar Ahmad, Reyaz |
author_sort | Saurabh, Kumar |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-9894645 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Cureus |
record_format | MEDLINE/PubMed |
spelling | pubmed-98946452023-02-03 An Unusual Case of Hereditary Neuropathy With Liability to Pressure Palsy: A Diagnostic Challenge Saurabh, Kumar Ahmad, Reyaz Cureus Internal Medicine 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. Cureus 2023-01-03 /pmc/articles/PMC9894645/ /pubmed/36741649 http://dx.doi.org/10.7759/cureus.33306 Text en Copyright © 2023, Saurabh et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
spellingShingle | Internal Medicine Saurabh, Kumar Ahmad, Reyaz An Unusual Case of Hereditary Neuropathy With Liability to Pressure Palsy: A Diagnostic Challenge |
title | An Unusual Case of Hereditary Neuropathy With Liability to Pressure Palsy: A Diagnostic Challenge |
title_full | An Unusual Case of Hereditary Neuropathy With Liability to Pressure Palsy: A Diagnostic Challenge |
title_fullStr | An Unusual Case of Hereditary Neuropathy With Liability to Pressure Palsy: A Diagnostic Challenge |
title_full_unstemmed | An Unusual Case of Hereditary Neuropathy With Liability to Pressure Palsy: A Diagnostic Challenge |
title_short | An Unusual Case of Hereditary Neuropathy With Liability to Pressure Palsy: A Diagnostic Challenge |
title_sort | unusual case of hereditary neuropathy with liability to pressure palsy: a diagnostic challenge |
topic | Internal Medicine |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9894645/ https://www.ncbi.nlm.nih.gov/pubmed/36741649 http://dx.doi.org/10.7759/cureus.33306 |
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