Tibial neuropathy, a rare manifestation of hereditary neuropathy with liability to pressure palsy: A case report.
Case report
Electromyography
Genetic testing
Hereditary neuropathy with liability to pressure palsy
PMP22
Journal
Heliyon
ISSN: 2405-8440
Titre abrégé: Heliyon
Pays: England
ID NLM: 101672560
Informations de publication
Date de publication:
Jul 2023
Jul 2023
Historique:
received:
14
11
2022
revised:
09
07
2023
accepted:
13
07
2023
medline:
31
7
2023
pubmed:
31
7
2023
entrez:
31
7
2023
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 37519674
doi: 10.1016/j.heliyon.2023.e18340
pii: S2405-8440(23)05548-2
pmc: PMC10372733
doi:
Types de publication
Case Reports
Langues
eng
Pagination
e18340Informations de copyright
© 2023 Published by Elsevier Ltd.
Déclaration de conflit d'intérêts
The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.
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