僵人综合征8例的临床、电生理特点和治疗  

Clinical features, electrophysiological characteristics and treatment response in eight cases with stiff-person syndrome

作　　者：孙葳[1] 赵玉华[2] 彭清[1] 周明 高枫[1] 次旦卓嘎[2] 张溪清 石昕[1] 梁为[1] 黄一宁[1] 

机构地区：[1]北京大学第一医院神经内科,北京100034 [2]西藏自治区人民医院神经内科

出　　处：《中国神经精神疾病杂志》2017年第10期586-590,共5页Chinese Journal of Nervous and Mental Diseases

摘　　要：目的分析僵人综合征(stiff-person syndrome,SPS)的临床、电生理特点和治疗。方法回顾性收集8例SPS患者的临床、电生理和实验室检查资料。结果 8例均表现为经典型SPS,进行性肌肉强直痉挛,阵发性加重,均累及腰背部脊旁肌和双下肢,其他可受累部位为胸壁、腹壁、上肢、颈部和头面部。7例行肌电图,5例受累肌肉安静时可见持续性运动单位电位活动(continuous motor unit activity,CMUA),2例注射地西泮后CMUA明显减少。5例送检抗GAD抗体,1例阳性。8例使用苯二氮卓类药物后症状减轻;3例联合免疫治疗(糖皮质激素1例,IVIG 2例)症状进一步改善;2例伴胸腺瘤,胸腺切除术后症状完全好转。结论 SPS表现为进行性肌肉强直痉挛,阵发性加重,最常累及躯干和双下肢肌肉,肌电图表现为受累肌肉安静时出现CMUA,苯二氮卓类药物联合免疫治疗有效,合并胸腺瘤者治疗肿瘤后SPS症状好转。Objective To investigate the clinical features, electrophysiological characteristics and treatment of stiff-person syndrome （SPS）. Methods Medical records were retrospectively collected from 8 SPS patients to analysis their clinical features, laboratory studies, electromyography characteristics and treatment effect. Results All 8 patients presented with classic SPS, experienced progressive muscle stiffness, rigidity and spasm with paroxysmal exacerbation, which most frequently involved the thoracolumbar paraspinal muscles and bilateral lower limbs and other parts of body including thoracic and abdominal wall, upper limbs, neck, head and face. Five patients underwent electromyography and the results showed continuous motor unit activity （CMUA） in the involved muscles at rest. CMUA reduced markedly in 2 cases after intravenous diazepam. Anti-glutamic acid decarboxylase （GAD） antibody testing was positive in one of 5 tested cases. All 8 patients experienced partially symptomatic relief for their muscle rigidity and spasm after benzodiazepines. Combined immunotherapy further attenuated the symptoms in two cases receiving intravenous immunoglobulin （IVIG） and one case receiving glucorticosteroids, respectively. Symptoms were completely relieved following thymectomy in 2 cases with thymoma. Conclusion SPS is characterized by progressive muscle stiffness, rigidity and spasm with paroxysmal exacerbation affecting the axial trunk and bilateral lower limbs most frequently. Electromyography indicates CMUA in these involved muscles at rest. Treatment with benzodiazepines combined with immunotherapy can improve the neurological manifestations. Thymectomy can completely relieve symptoms of SPS in patiens with thymoma.

关 键 词：僵人综合征 自身抗体 谷氨酸脱羧酶 胸腺瘤 肌电图 

分 类 号：R746[医药卫生—神经病学与精神病学]