"Tibial neuropathy, a rare manifestation of hereditary neuropathy with liability to pressure palsy: A case report"

作者全名："Zhu, Geke; Nie, Xiangtao; Qi, Wenjing; Ma, Yongbo; Hao, Lei; Guo, Xiuming"

作者地址："[Zhu, Geke; Nie, Xiangtao; Qi, Wenjing; Ma, Yongbo; Hao, Lei; Guo, Xiuming] Chongqing Med Univ, Dept Neurol, Affiliated Hosp 1, Chongqing 400016, Peoples R China"

通信作者："Hao, L; Guo, XM (通讯作者)，Chongqing Med Univ, Dept Neurol, Affiliated Hosp 1, Chongqing 400016, Peoples R China."

来源：HELIYON

ESI学科分类：　

WOS号：WOS:001042748200001

JCR分区：Q1

影响因子：3.4

年份：2023

卷号：9

期号：7

开始页：　

结束页：　

文献类型：Article

关键词：Hereditary neuropathy with liability to; pressure palsy; PMP22; Electromyography; Genetic testing; Case report

摘要："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 pero-neal nerve, were involved. The diagnosis of HNPP was confirmed by genetic testing which dis-closed a deletion of PMP22 gene. She was completely asymptomatic in one month after neurotrophic drug treatments."

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