Hatake Seira, Shimizu Fumitaka, Oishi Mariko, Kimura Kazumi, Kanda Takashi
Department of Clinical Neuroscience and Neurology, Yamaguchi University Graduate School of Medicine.
Department of Neurology, Graduate School of Medicine, Nippon Medical School.
Rinsho Shinkeigaku. 2021 Oct 28;61(10):676-680. doi: 10.5692/clinicalneurol.cn-001619. Epub 2021 Sep 25.
An 18-year-old man without familial history of neuropathy developed motor and sensory disturbance of bilateral upper limbs after maintaining shoulder abduction/external rotation and elbow flection position of both upper limbs for an hour during military training. Neurological examination and electromyography studies suggested left brachial plexopathy, although a nerve conduction study (NCS) showed mild demyelination of bilateral median nerve and right ulnar nerve. Thoracic outlet syndrome (TOS) was firstly suspected because symptoms were induced by the specific position which narrows, costoclavicular and retropectoralis minor space and cause compression of the brachial plexus; however, no findings suggesting TOS were observed on computed tomography and magnetic resonance imaging. Hence, we suspected a diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP) due to having episodes of bilateral acute brachial plexopathy and mild demyelination on NCS. The diagnosis of HNPP was confirmed by the deletion of the PMP22 gene deletion.
一名无神经病家族史的18岁男性,在军训期间将双上肢保持在外展/外旋及屈肘姿势1小时后,出现双上肢运动和感觉障碍。神经学检查和肌电图研究提示左侧臂丛神经病变,尽管神经传导研究(NCS)显示双侧正中神经和右侧尺神经存在轻度脱髓鞘。最初怀疑为胸廓出口综合征(TOS),因为症状由特定体位诱发,该体位会使肋锁间隙和胸小肌后间隙变窄并导致臂丛神经受压;然而,计算机断层扫描和磁共振成像未发现提示TOS的表现。因此,由于出现双侧急性臂丛神经病变发作且NCS显示轻度脱髓鞘,我们怀疑诊断为遗传性压力易感性神经病(HNPP)。PMP22基因缺失证实了HNPP的诊断。