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Sonographic Evaluation of the Peripheral Nerves in Hereditary Neuropathy With Liability to Pressure Palsies: A Case Report

Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominantly inherited disorder that affects peripheral nerves by repeated focal pressure. HNPP can be diagnosed by clinical findings, electrodiagnostic studies, histopathological features, and genetic analysis. Ultrasonog...

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Autores principales: Kim, Se Hwa, Yang, Seung Nam, Yoon, Joon Shik, Park, Bum Jun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Academy of Rehabilitation Medicine 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3953352/
https://www.ncbi.nlm.nih.gov/pubmed/24639934
http://dx.doi.org/10.5535/arm.2014.38.1.109
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author Kim, Se Hwa
Yang, Seung Nam
Yoon, Joon Shik
Park, Bum Jun
author_facet Kim, Se Hwa
Yang, Seung Nam
Yoon, Joon Shik
Park, Bum Jun
author_sort Kim, Se Hwa
collection PubMed
description Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominantly inherited disorder that affects peripheral nerves by repeated focal pressure. HNPP can be diagnosed by clinical findings, electrodiagnostic studies, histopathological features, and genetic analysis. Ultrasonography is increasingly used for the diagnosis of neuromuscular diseases; however, sonographic features of HNPP have not been clearly defined. We report the sonographic findings and comparative electrodiagnostic data in a 73-year-old woman with HNPP, confirmed by genetic analysis. The cross-sectional areas of peripheral nerves were enlarged at typical nerve entrapment sites, but enlargement at non-entrapment sites was uncommon. These sonographic features may be helpful for diagnosis of HNPP when electrodiagnostic studies are suspicious of HNPP and/or gene study is not compatible.
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spelling pubmed-39533522014-03-17 Sonographic Evaluation of the Peripheral Nerves in Hereditary Neuropathy With Liability to Pressure Palsies: A Case Report Kim, Se Hwa Yang, Seung Nam Yoon, Joon Shik Park, Bum Jun Ann Rehabil Med Case Report Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominantly inherited disorder that affects peripheral nerves by repeated focal pressure. HNPP can be diagnosed by clinical findings, electrodiagnostic studies, histopathological features, and genetic analysis. Ultrasonography is increasingly used for the diagnosis of neuromuscular diseases; however, sonographic features of HNPP have not been clearly defined. We report the sonographic findings and comparative electrodiagnostic data in a 73-year-old woman with HNPP, confirmed by genetic analysis. The cross-sectional areas of peripheral nerves were enlarged at typical nerve entrapment sites, but enlargement at non-entrapment sites was uncommon. These sonographic features may be helpful for diagnosis of HNPP when electrodiagnostic studies are suspicious of HNPP and/or gene study is not compatible. Korean Academy of Rehabilitation Medicine 2014-02 2014-02-25 /pmc/articles/PMC3953352/ /pubmed/24639934 http://dx.doi.org/10.5535/arm.2014.38.1.109 Text en Copyright © 2014 by Korean Academy of Rehabilitation Medicine http://creativecommons.org/licenses/by-nc/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted noncommercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Kim, Se Hwa
Yang, Seung Nam
Yoon, Joon Shik
Park, Bum Jun
Sonographic Evaluation of the Peripheral Nerves in Hereditary Neuropathy With Liability to Pressure Palsies: A Case Report
title Sonographic Evaluation of the Peripheral Nerves in Hereditary Neuropathy With Liability to Pressure Palsies: A Case Report
title_full Sonographic Evaluation of the Peripheral Nerves in Hereditary Neuropathy With Liability to Pressure Palsies: A Case Report
title_fullStr Sonographic Evaluation of the Peripheral Nerves in Hereditary Neuropathy With Liability to Pressure Palsies: A Case Report
title_full_unstemmed Sonographic Evaluation of the Peripheral Nerves in Hereditary Neuropathy With Liability to Pressure Palsies: A Case Report
title_short Sonographic Evaluation of the Peripheral Nerves in Hereditary Neuropathy With Liability to Pressure Palsies: A Case Report
title_sort sonographic evaluation of the peripheral nerves in hereditary neuropathy with liability to pressure palsies: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3953352/
https://www.ncbi.nlm.nih.gov/pubmed/24639934
http://dx.doi.org/10.5535/arm.2014.38.1.109
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