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Tibial neuropathy, a rare manifestation of hereditary neuropathy with liability to pressure palsy: A case report
Hereditary neuropathy with liability to pressure palsy (HNPP) is characterized by acute, painless and recurrent mononeuropathies. Genetic testing shows PMP22 gene deletion of chromosome 17p11.2 can provide evidence for the diagnosis of HNPP. Reports on tibial neuropathy as the main manifestation of...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10372733/ https://www.ncbi.nlm.nih.gov/pubmed/37519674 http://dx.doi.org/10.1016/j.heliyon.2023.e18340 |
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author | Zhu, Geke Nie, Xiangtao Qi, Wenjing Ma, Yongbo Hao, Lei Guo, Xiuming |
author_facet | Zhu, Geke Nie, Xiangtao Qi, Wenjing Ma, Yongbo Hao, Lei Guo, Xiuming |
author_sort | Zhu, Geke |
collection | PubMed |
description | Hereditary neuropathy with liability to pressure palsy (HNPP) is characterized by acute, painless and recurrent mononeuropathies. Genetic testing shows PMP22 gene deletion of chromosome 17p11.2 can provide evidence for the diagnosis of HNPP. Reports on tibial neuropathy as the main manifestation of HNPP are very rare. We report a 14-year-old girl who was admitted to our hospital due to plantar foot numbness and plantar flexion weakness of her left foot. The patient had a history of lateral dorsal numbness and right foot drop when she was 3 years old. Clinical symptoms, and neurological examination demonstrated tibial neuropathy. Electromyography showed extensive peripheral nerve, including median nerve, ulnar nerve, tibial nerve and peroneal nerve, were involved. The diagnosis of HNPP was confirmed by genetic testing which disclosed a deletion of PMP22 gene. She was completely asymptomatic in one month after neurotrophic drug treatments. |
format | Online Article Text |
id | pubmed-10372733 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
spelling | pubmed-103727332023-07-28 Tibial neuropathy, a rare manifestation of hereditary neuropathy with liability to pressure palsy: A case report Zhu, Geke Nie, Xiangtao Qi, Wenjing Ma, Yongbo Hao, Lei Guo, Xiuming Heliyon Case Report Hereditary neuropathy with liability to pressure palsy (HNPP) is characterized by acute, painless and recurrent mononeuropathies. Genetic testing shows PMP22 gene deletion of chromosome 17p11.2 can provide evidence for the diagnosis of HNPP. Reports on tibial neuropathy as the main manifestation of HNPP are very rare. We report a 14-year-old girl who was admitted to our hospital due to plantar foot numbness and plantar flexion weakness of her left foot. The patient had a history of lateral dorsal numbness and right foot drop when she was 3 years old. Clinical symptoms, and neurological examination demonstrated tibial neuropathy. Electromyography showed extensive peripheral nerve, including median nerve, ulnar nerve, tibial nerve and peroneal nerve, were involved. The diagnosis of HNPP was confirmed by genetic testing which disclosed a deletion of PMP22 gene. She was completely asymptomatic in one month after neurotrophic drug treatments. Elsevier 2023-07-14 /pmc/articles/PMC10372733/ /pubmed/37519674 http://dx.doi.org/10.1016/j.heliyon.2023.e18340 Text en © 2023 Published by Elsevier Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
spellingShingle | Case Report Zhu, Geke Nie, Xiangtao Qi, Wenjing Ma, Yongbo Hao, Lei Guo, Xiuming Tibial neuropathy, a rare manifestation of hereditary neuropathy with liability to pressure palsy: A case report |
title | Tibial neuropathy, a rare manifestation of hereditary neuropathy with liability to pressure palsy: A case report |
title_full | Tibial neuropathy, a rare manifestation of hereditary neuropathy with liability to pressure palsy: A case report |
title_fullStr | Tibial neuropathy, a rare manifestation of hereditary neuropathy with liability to pressure palsy: A case report |
title_full_unstemmed | Tibial neuropathy, a rare manifestation of hereditary neuropathy with liability to pressure palsy: A case report |
title_short | Tibial neuropathy, a rare manifestation of hereditary neuropathy with liability to pressure palsy: A case report |
title_sort | tibial neuropathy, a rare manifestation of hereditary neuropathy with liability to pressure palsy: a case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10372733/ https://www.ncbi.nlm.nih.gov/pubmed/37519674 http://dx.doi.org/10.1016/j.heliyon.2023.e18340 |
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