运动神经元病样表现病例40例临床分析

发布时间：2018-05-16 10:47

本文选题：运动神经元病 + 临床特征　；参考：《河北医科大学》2014年硕士论文

【摘要】：目的：通过观察肌萎缩侧索硬化（Amyotrophic Lateral Sclerosis,ALS）/运动神经元病（Motor Neuron Disease,MND）的临床特征，包括发病年龄、性别、起病方式及生化、影像检查等的多种指标，探究其与发病的相关性，为早期准确诊断运动神经元病并进一步研究其病因、发病机制及治疗提供临床数据支持。方法：回顾性分析我院神经内科收治的以肌肉无力、肌肉萎缩或言语不利为首发症状，肌电图提示广泛神经源性损害的病例共40例，并对其中确诊及很可能的36例运动神经元病病人的发病年龄、性别、体重指数、病程、起病部位、临床体征、辅助检查、早期误诊情况及预后进行分析总结并随访。结果： 140例以运动神经元病表现为特征的病例中，34例为肌萎缩侧索硬化（Amotrophic lateral sclerosis,ALS），1例为进行性延髓麻痹（Progressivebulbar palsy, PBP），2例为肯尼迪病(Kennedy’s disease,KD)，1例为脑血管病合并甲状腺功能亢进，2例为副肿瘤综合征。34例肌萎缩侧索硬化病例中1例合并甲状腺炎，1例合并胸腺增生，1例为连枷臂综合征。 2运动神经元病临床特点、辅助检查、早期误诊情况及预后 2.1临床特点本病隐袭起病，平均病程13.94±12.36月，中老年发病最常见，平均发病年龄为56.86±10.83岁，男性多于女性，男女性别比例为1.5：1。首发症状以肌肉无力最常见。37%病例存在锥体束征，40%病人存在腱反射亢进，14%病例存在肌束震颤。 2.2辅助检查35例病例均行肌电图检查，存在广泛神经源性损害，胸锁乳突肌异常占57%。26例行肺部CT检查，其中11例存在肺部感染。19例行颈椎MRI检查，其中18例异常，4例在疾病早期误诊为颈椎病治疗。1例甲状腺功能检查提示甲状腺炎，经治疗后期复查正常，但肢体无力症状进行性加重。术前四项检查中乙型病毒性肝炎（小三阳）2例，慢性丙肝1例。25例行免疫球蛋白检查，2例IgM异常，2例IgA异常，6例IgG异常，其中IgA水平与健康人群相比存在统计学差异；17例行补体检查，5例C3降低，3例C4降低，两者与健康人群相比存在统计学差异；24例病例行肿瘤筛查，12例提示神经元烯醇化酶升高，与健康人群比较存在统计学差异；20例行叶酸检查均在正常范围，18例行同型半胱氨酸检查，9例同型半胱氨酸升高，二者与健康人群差异具有统计学意义；28例病例行铁蛋白检查，26例行转铁蛋白检查，其中5例铁蛋白升高，与健康人群相比无统计学差异；25例转铁蛋白降低，其降低与健康人群比较存在统计学差异；34例患者接受血脂检查，其中高胆固醇1例，甘油三酯升高者5例，高密度脂蛋白降低12例，2例低密度脂蛋白升高，其中甘油三脂、胆固醇升高与健康人群比较没有统计学意义，而高密度脂蛋白及低密度脂蛋白变化较健康人群有统计学意义。34例行肌酶检查，其水平升高与健康人群比较存在统计学差异。 2.3早期误诊情况35例病例中有8例曾在初期被误诊为其他疾病，误诊率为22.8%。其中3例被误诊为脑血管病，4例被误诊为颈椎病，1例被误诊为冠心病。 2.4预后23例运动神经元病病例成功随访，随访率为66%，诊断明确后服用利鲁唑病例为11例，占31.4%，其中4例出现不良反应（36%），停药后缓解。死亡人数为7人，死亡率30.4%，平均生存期为16个月（16.14±4.06月），，均死于呼吸衰竭。结论： 1临床上易与运动神经元病混淆的疾病较多，本研究中表现为运动神经元病特征的其他疾病包括肯尼迪病，脑血管病合并甲状腺功能亢进，副肿瘤综合征等。本组研究MND早期误诊率为22.8%。其中以上肢无力为主要症状者常被误诊为颈椎病，而以言语不利为主要症状者常被误诊为脑血管病。 235例运动神经元病病人肌电图均显示广泛神经源性损伤，胸锁乳突肌异常占57%，其异常与起病部位有关。有些病人表现出IgA、C3、C4异常，血清叶酸水平下降，同型半胱氨酸水平升高。与既往研究论断一致，转铁蛋白降低，提示运动神经元病患者存在铁代谢异常。本研究中34%的MND患者血清肌酸激酶升高，这可能与肌束震颤及肌肉失神经支配损伤肌纤维相关，其与男女性别、发病部位无相关性。患者诊断明确后仅有31.4%服用利鲁唑，且其中的36%因存在不良反应而停用。有随访结果病例中死亡率为30.4%，平均生存期为16个月（16.14±4.06月），均死于呼吸衰竭。
[Abstract]:Objective : To investigate the clinical characteristics of Amyotrophic lateral sclerosis ( ALS ) / motor neuron disease ( MND ) , including age , sex , onset of disease , biochemistry and image examination .

Method :

A retrospective analysis of 40 cases with muscle weakness , muscular atrophy or speech adverse to the neurological deficit of our hospital was analyzed and summarized and followed up for 36 cases of motor neuron disease , including age , sex , body mass index , course of disease , site of disease , clinical signs , auxiliary examination , early misdiagnosis and prognosis .

Results :

Among the 140 cases with motor neuron disease , 34 cases were myotrophic lateral sclerosis ( ALS ) , 1 case was progressive bulbar palsy ( PBP ) , 2 cases were Kennedy ' s disease ( KD ) , 1 case was cerebrovascular disease complicated with hyperthyroidism , 2 cases were paraneoplastic syndrome .

Clinical characteristics , auxiliary examination , early misdiagnosis and prognosis of motor neuron disease

2.1 The average disease course was 13.94 卤 12.36 months . The average age was 56.86 卤 10.83 years old , the average age was 56.86 卤 10.83 years old , the male was more than the female , the sex ratio of male and female was 1.5 : 1 . The first symptom was the most common muscle weakness .

2 . Of the 35 cases , 35 cases were examined with EMG . There were extensive nerve source damage , abnormal chest - lock mastoid muscle accounted for 57 % . Of them , 11 cases had pulmonary infection . Among them , 18 cases had abnormal lung infection and 4 cases were misdiagnosed as cervical spondylosis in the early stage of disease .
17 routine complement examinations , 5 C3 decreased , 3 C4 decreased , both had statistical difference compared with the healthy population ;
In 24 cases , tumor screening was performed in 12 cases , and there was statistical difference between the two groups .
20 routine folic acid examinations were in the normal range , 18 cases of homocysteine were examined , 9 cases of homocysteine increased , the difference between them was statistically significant with the healthy population ;
There were 28 cases of iron protein examination , 26 cases of transferrin examination , 5 cases of ferritin increased , there was no statistical difference compared with healthy population ;
25 cases of transferrin decreased , which had statistical difference compared with healthy population ;
In 34 patients with high cholesterol , 5 cases of high cholesterol , 12 cases with high density lipoprotein and 2 low density lipoprotein , there was no significant difference between the high density lipoprotein and the low density lipoprotein in healthy population .

2.3 Among the 35 cases , 8 of 35 cases were misdiagnosed as other diseases at the initial stage , and the misdiagnosis rate was 22 . 8 % . Among them , 3 cases were misdiagnosed as cerebrovascular disease , 4 cases were misdiagnosed as cervical spondylosis , 1 case was misdiagnosed as coronary heart disease .

2 . The prognosis of 23 cases of motor neuron disease was followed up successfully , the follow - up rate was 66 % , the diagnosis was clear , the case was 11 cases , accounting for 31.4 % , among which 4 cases had adverse reaction ( 36 % ) , the death rate was 30 . 4 % , the average survival time was 16 months ( 16.14 卤 4 . 06 months ) , all died from respiratory failure .

Conclusion :

In this study , other diseases characterized by motor neuron disease include Kennedy disease , cerebrovascular disease , hyperthyroid function and paraneoplastic syndrome . The early misdiagnosis rate of MND is 22 . 8 % .

Among the 235 cases of motor neuron disease , the EMG showed extensive nerve source injury , and abnormal chest - lock mastoid muscle accounted for 57 % . Some patients showed that IgA , C3 , C4 were abnormal , serum folic acid level decreased , and homocysteine level increased . There were 34 % of patients with MND who had abnormal iron metabolism . The mortality rate was 35.4 % in the patients with follow - up and 36 % . The average survival time was 16 months ( 16.14 卤 4.06 months ) .

【学位授予单位】：河北医科大学
【学位级别】：硕士
【学位授予年份】：2014
【分类号】：R744.8

【参考文献】