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Hereditary neuropathy with liability to pressure palsies misdiagnosed as Guillain–Barré Syndrome: A case report
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominantly inherited genetic disease characterized by recurrent numbness and limb weakness. HNPP can be easily missed or misdiagnosed because of electrophysiological heterogeneity and atypical clinical symptoms. To date,...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Lippincott Williams & Wilkins
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9509038/ https://www.ncbi.nlm.nih.gov/pubmed/36197172 http://dx.doi.org/10.1097/MD.0000000000030768 |
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author | Zhu, Jianming Tong, Xueqing Li, Yandeng Li, Guangqin Pi, Zhendong |
author_facet | Zhu, Jianming Tong, Xueqing Li, Yandeng Li, Guangqin Pi, Zhendong |
author_sort | Zhu, Jianming |
collection | PubMed |
description | Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominantly inherited genetic disease characterized by recurrent numbness and limb weakness. HNPP can be easily missed or misdiagnosed because of electrophysiological heterogeneity and atypical clinical symptoms. To date, diagnosis of HNPP remains a challenge for clinicians. PATIENT CONCERNS: Here, we report the case of a 12-year-old woman diagnosed with HNPP, which was initially diagnosed with Guillain–Barré Syndrome (GBS) and treated with intravenous immunoglobulin (IVIG). DIAGNOSES: Repeat electrodiagnostic studies and genetic testing confirmed the diagnosis of HNPP. INTERVENTIONS: The patient was treated with neurotrophic drugs and health education, including avoiding maintenance of a certain posture for extended periods, which could damage the peripheral nerves. OUTCOMES: The patient was discharged 5 days later. The patient was free from recurrence after 6 months of follow-up. LESSONS: This case highlights the complexity of HNPP diagnosis and emphasizes the importance of early identification. |
format | Online Article Text |
id | pubmed-9509038 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Lippincott Williams & Wilkins |
record_format | MEDLINE/PubMed |
spelling | pubmed-95090382022-09-26 Hereditary neuropathy with liability to pressure palsies misdiagnosed as Guillain–Barré Syndrome: A case report Zhu, Jianming Tong, Xueqing Li, Yandeng Li, Guangqin Pi, Zhendong Medicine (Baltimore) Research Article Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominantly inherited genetic disease characterized by recurrent numbness and limb weakness. HNPP can be easily missed or misdiagnosed because of electrophysiological heterogeneity and atypical clinical symptoms. To date, diagnosis of HNPP remains a challenge for clinicians. PATIENT CONCERNS: Here, we report the case of a 12-year-old woman diagnosed with HNPP, which was initially diagnosed with Guillain–Barré Syndrome (GBS) and treated with intravenous immunoglobulin (IVIG). DIAGNOSES: Repeat electrodiagnostic studies and genetic testing confirmed the diagnosis of HNPP. INTERVENTIONS: The patient was treated with neurotrophic drugs and health education, including avoiding maintenance of a certain posture for extended periods, which could damage the peripheral nerves. OUTCOMES: The patient was discharged 5 days later. The patient was free from recurrence after 6 months of follow-up. LESSONS: This case highlights the complexity of HNPP diagnosis and emphasizes the importance of early identification. Lippincott Williams & Wilkins 2022-09-23 /pmc/articles/PMC9509038/ /pubmed/36197172 http://dx.doi.org/10.1097/MD.0000000000030768 Text en Copyright © 2022 the Author(s). Published by Wolters Kluwer Health, Inc. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the Creative Commons Attribution License 4.0 (CCBY) (https://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Research Article Zhu, Jianming Tong, Xueqing Li, Yandeng Li, Guangqin Pi, Zhendong Hereditary neuropathy with liability to pressure palsies misdiagnosed as Guillain–Barré Syndrome: A case report |
title | Hereditary neuropathy with liability to pressure palsies misdiagnosed as Guillain–Barré Syndrome: A case report |
title_full | Hereditary neuropathy with liability to pressure palsies misdiagnosed as Guillain–Barré Syndrome: A case report |
title_fullStr | Hereditary neuropathy with liability to pressure palsies misdiagnosed as Guillain–Barré Syndrome: A case report |
title_full_unstemmed | Hereditary neuropathy with liability to pressure palsies misdiagnosed as Guillain–Barré Syndrome: A case report |
title_short | Hereditary neuropathy with liability to pressure palsies misdiagnosed as Guillain–Barré Syndrome: A case report |
title_sort | hereditary neuropathy with liability to pressure palsies misdiagnosed as guillain–barré syndrome: a case report |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9509038/ https://www.ncbi.nlm.nih.gov/pubmed/36197172 http://dx.doi.org/10.1097/MD.0000000000030768 |
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