Zhu Geke, Nie Xiangtao, Qi Wenjing, Ma Yongbo, Hao Lei, Guo Xiuming
Department of Neurology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, 400016, China.
Heliyon. 2023 Jul 14;9(7):e18340. doi: 10.1016/j.heliyon.2023.e18340. eCollection 2023 Jul.
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.
遗传性压力易感性周围神经病(HNPP)的特点是急性、无痛性且反复发作的单神经病。基因检测显示17p11.2染色体上的PMP22基因缺失可为HNPP的诊断提供依据。以胫神经病变为主要表现的HNPP报道非常罕见。我们报告一名14岁女孩,因左足底麻木和左足跖屈无力入院。该患者3岁时曾有背外侧麻木和右足下垂病史。临床症状及神经学检查显示为胫神经病变。肌电图显示包括正中神经、尺神经、胫神经和腓总神经在内的广泛周围神经受累。基因检测发现PMP22基因缺失,确诊为HNPP。经神经营养药物治疗1个月后,她完全无症状。