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

Geke Zhu; Xiangtao Nie; Wenjing Qi; Yongbo Ma; Lei Hao; Xiuming Guo

doi:10.1016/j.heliyon.2023.e18340

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

Heliyon. 2023 Jul 14;9(7):e18340. doi: 10.1016/j.heliyon.2023.e18340. eCollection 2023 Jul.

Authors

Geke Zhu¹, Xiangtao Nie¹, Wenjing Qi¹, Yongbo Ma¹, Lei Hao¹, Xiuming Guo¹

Affiliation

¹ Department of Neurology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, 400016, China.

Abstract

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.

Keywords: Case report; Electromyography; Genetic testing; Hereditary neuropathy with liability to pressure palsy; PMP22.

Publication types

Case Reports