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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...

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Autores principales: Zhu, Geke, Nie, Xiangtao, Qi, Wenjing, Ma, Yongbo, Hao, Lei, Guo, Xiuming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
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.
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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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