摘要：

目的 总结以臂丛神经损害为首发症状的遗传性压力易感性周围神经病的临床表型和基因突变特点。 方法与结果 男性患者，46 岁，急性起病，主要表现为左侧肩部不适感伴左上肢无力2 月余；实验室和影像学检查无特殊；神经电生理学提示四肢广泛性神经传导异常，以左侧臂丛上干损害为主；基因检测显示PM P22 基因杂合缺失突变，明确诊断为遗传性压力易感性周围神经病。予改善循环和营养神经等对症治疗。出院后2 个月随访，左上肢肌力基本正常。 结论 以臂丛神经损害为首发症状的遗传性压力易感性周围神经病临床少见，应注意与遗传性神经痛性肌萎缩和炎性脱髓鞘性多发性神经根神经病相鉴别。

关键词: 遗传性运动和感觉性神经病, 疾病遗传易感性, 臂丛, 髓磷脂蛋白质类, 基因, 突变, 肌电描记术

Abstract:

Objective  To summarize the features of clinical phenotype and genetic mutation of hereditary neuropathy with liability to pressure palsies (HNPP) presenting brachial plexus injury as the first manifestation.  Methods and Results  A 46-year-old male patient showed acute onset. He mainly suffered from left shoulder discomfort with left upper limb weakness for 2 months. The results of laboratory and imaging examination were normal, and neuroelectrophysiology showed peripheral nerve injury of limbs, mainly the upper trunk injury of left brachial plexus. Gene detection showed loss of heterozygosity of PM P22 gene, therefore the patient was clearly diagnosed as HNPP. He was treated by improving circulation and nutrition support, and the left upper extremity muscle strength was recovered to normal after 2 months of follow?up.  Conclusions  HNPP with brachial plexus injury as the first manifestation is rare, and should be differentiated from hereditary neuralgic amyotrophy (HNA) and inflammatory demyelinating polyradiculoneuropathy (IDP).

Key words: Hereditary motor and sensory neuropathies, Genetic predisposition to disease, Brachial plexus, Myelin proteins, Genes, Mutation, Electromyography