Wedderburn Sarah, Pateria Puraskar, Panegyres Peter K
Neurodegenerative Disorders Research Pty. Ltd., West Perth, W.A., Australia.
Neurology Unit, Joondalup Health Campus, Joondalup, W.A., Australia.
Case Rep Neurol. 2014 Dec 12;6(3):281-6. doi: 10.1159/000369921. eCollection 2014 Sep-Dec.
It is generally regarded that patients with hereditary neuropathy to pressure palsies, due to a deletion in the PMP22 gene, show recurrent pressure palsy and generalised peripheral neuropathy (pes cavus and hammer toes sometimes develop). Brachial plexopathy is rarely identified as a first presentation of hereditary neuropathy to pressure palsies. We describe a young man who developed a painless flail upper limb with a clinical diagnosis of a brachial plexopathy after his partner slept on his arm - a PMP22 deletion was found. His father, who had a symmetrical polyneuropathy without recurrent mononeuropathies, shared the PMP22 deletion.
一般认为,由于PMP22基因缺失导致的遗传性压迫性麻痹患者会出现复发性压迫性麻痹和全身性周围神经病变(有时会出现高弓足和锤状趾)。臂丛神经病变很少被认为是遗传性压迫性麻痹的首发表现。我们描述了一名年轻男性,在其伴侣睡在他手臂上后,出现了无痛性连枷上肢,临床诊断为臂丛神经病变,结果发现存在PMP22基因缺失。他的父亲有对称性多神经病但无复发性单神经病,也存在PMP22基因缺失。