Flor-de-Lima Filipa, Macedo Liliana, Taipa Ricardo, Melo-Pires Manuel, Rodrigues Maria Lurdes
Department of Pediatrics, Centro Hospitalar do Alto Ave, Hospital de Guimarães, 4835-044 Guimarães, Portugal ; Department of Pediatrics, Centro Hospitalar de São João, Alameda Prof. Hernâni Monteiro, 4200-319 Porto, Portugal.
Case Rep Pediatr. 2013;2013:230541. doi: 10.1155/2013/230541. Epub 2013 Oct 23.
Hereditary neuropathy with liability to pressure palsy is characterized by acute, painless, recurrent mononeuropathies secondary to minor trauma or compression. A 16-year-old boy had the first episode of right foot drop after minor motorcycle accident. Electromyography revealed conduction block and slowing velocity conduction of the right deep peroneal nerve at the fibular head. After motor rehabilitation, he fully recovered. Six months later he had the second episode of foot drop in the opposite site after prolonged squatting position. Electromyography revealed sensorimotor polyneuropathy of left peroneal, sural, posterior tibial, and deep peroneal nerves and also of ulnar, radial, and median nerves of both upper limbs. Histological examination revealed sensory nerve demyelination and focal thickenings of myelin fibers. The diagnosis of hereditary neuropathy with liability to pressure palsy was confirmed by PMP22 deletion of chromosome 17p11.2. He started motor rehabilitation and avoidance of stressing factors with progressive recovery. After one-year followup, he was completely asymptomatic. Recurrent bilateral foot drop history, "sausage-like" swellings of myelin in histological examination, and the results of electromyography led the authors to consider the diagnosis despite negative family history. The authors highlight this rare disease in pediatric population and the importance of high index of clinical suspicion for its diagnosis.
遗传性压力易感性周围神经病的特点是继发于轻微创伤或压迫的急性、无痛性、复发性单神经病。一名16岁男孩在轻微摩托车事故后首次出现右脚下垂。肌电图显示腓骨头处右腓深神经传导阻滞及传导速度减慢。经过运动康复治疗后,他完全康复。6个月后,在长时间蹲位后,他在对侧再次出现足部下垂。肌电图显示左腓总神经、腓肠神经、胫后神经和腓深神经以及双上肢的尺神经、桡神经和正中神经存在感觉运动性多发神经病。组织学检查显示感觉神经脱髓鞘和髓鞘纤维局灶性增厚。17p11.2染色体的PMP22缺失证实了遗传性压力易感性周围神经病的诊断。他开始进行运动康复治疗并避免应激因素,病情逐渐恢复。经过一年的随访,他完全无症状。尽管家族史阴性,但反复出现双侧足部下垂病史、组织学检查中髓鞘呈“腊肠样”肿胀以及肌电图结果使作者考虑做出该诊断。作者强调了这种儿科罕见疾病以及临床高度怀疑对其诊断的重要性。