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Clinical characteristics of hereditary neuropathy with liability to pressure palsy presenting with monoparesis in the emergency department

Hereditary neuropathy with liability to pressure palsy (HNPP) is a rare neurological genetic disease caused by deletion of the peripheral myelin protein 22 gene and presents in childhood or young adulthood. We report four cases of HNPP with typical and rare presentations, reflecting the broad clinic...

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Autores principales: Kim, Changho, Park, Jin-Sung
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Yeungnam University College of Medicine 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7606964/
https://www.ncbi.nlm.nih.gov/pubmed/32891078
http://dx.doi.org/10.12701/yujm.2020.00472
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author Kim, Changho
Park, Jin-Sung
author_facet Kim, Changho
Park, Jin-Sung
author_sort Kim, Changho
collection PubMed
description Hereditary neuropathy with liability to pressure palsy (HNPP) is a rare neurological genetic disease caused by deletion of the peripheral myelin protein 22 gene and presents in childhood or young adulthood. We report four cases of HNPP with typical and rare presentations, reflecting the broad clinical spectrum of this disease. Two patients presented with mononeuropathies that are frequently observed in HNPP; the remaining two presented with bilateral neuropathy or mononeuropathy anatomically present in the deep layer. This reflects the broad clinical presentation of HNPP, and clinicians should differentiate these conditions in young patients with monoparesis or bilateral paresis. Although HNPP is currently untreatable, early diagnosis in the emergency department can lead to early detection, eventually resulting in less provocation and recurrence which may cause early motor nerve degeneration.
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spelling pubmed-76069642020-11-05 Clinical characteristics of hereditary neuropathy with liability to pressure palsy presenting with monoparesis in the emergency department Kim, Changho Park, Jin-Sung Yeungnam Univ J Med Case Report Hereditary neuropathy with liability to pressure palsy (HNPP) is a rare neurological genetic disease caused by deletion of the peripheral myelin protein 22 gene and presents in childhood or young adulthood. We report four cases of HNPP with typical and rare presentations, reflecting the broad clinical spectrum of this disease. Two patients presented with mononeuropathies that are frequently observed in HNPP; the remaining two presented with bilateral neuropathy or mononeuropathy anatomically present in the deep layer. This reflects the broad clinical presentation of HNPP, and clinicians should differentiate these conditions in young patients with monoparesis or bilateral paresis. Although HNPP is currently untreatable, early diagnosis in the emergency department can lead to early detection, eventually resulting in less provocation and recurrence which may cause early motor nerve degeneration. Yeungnam University College of Medicine 2020-07-31 /pmc/articles/PMC7606964/ /pubmed/32891078 http://dx.doi.org/10.12701/yujm.2020.00472 Text en Copyright © 2020 Yeungnam University College of Medicine This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Kim, Changho
Park, Jin-Sung
Clinical characteristics of hereditary neuropathy with liability to pressure palsy presenting with monoparesis in the emergency department
title Clinical characteristics of hereditary neuropathy with liability to pressure palsy presenting with monoparesis in the emergency department
title_full Clinical characteristics of hereditary neuropathy with liability to pressure palsy presenting with monoparesis in the emergency department
title_fullStr Clinical characteristics of hereditary neuropathy with liability to pressure palsy presenting with monoparesis in the emergency department
title_full_unstemmed Clinical characteristics of hereditary neuropathy with liability to pressure palsy presenting with monoparesis in the emergency department
title_short Clinical characteristics of hereditary neuropathy with liability to pressure palsy presenting with monoparesis in the emergency department
title_sort clinical characteristics of hereditary neuropathy with liability to pressure palsy presenting with monoparesis in the emergency department
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7606964/
https://www.ncbi.nlm.nih.gov/pubmed/32891078
http://dx.doi.org/10.12701/yujm.2020.00472
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