7例眼睑痉挛型Meige综合征临床误诊分析

目的 探讨眼睑痉挛型Meige综合征的临床特点、诊断、误诊原因及治疗.方法 对上海市第一人民医院神经内科收治的7例误诊的眼睑痉挛型Meige综合征患者的临床特点、误诊原因及治疗进行回顾性分析.结果 眼睑痉挛型Meige综合征典型表现为不自主闭眼,临床上易被误诊为重症肌无力、神经官能症、眼睑炎和干眼症等.误诊的原因主要是对本病认识不足.本组7例患者经治疗后症状均有明显改善.结论 眼睑痉挛型Meige综合征发病早期症状不典型,易误诊误治,要注意和其他疾病鉴别.     

丘脑底核脑深部电极刺激术治疗Meige综合征

目的 观察双侧丘脑底核-脑深部电刺激术( STN - DBS)治疗3例Meige综合征患者的术后长期疗效.方法 3例Meige综合征患者接受双侧脑深部电极刺激术,术中微电极记录确定准确靶点定位,术后进行参数程控.术后1、3、6、12、24个月及最后一次复诊时进行随访,采用BFMDRS评价治疗效果,观察参数变化.结果 3例患者术后症状均得到明显改善,术后1个月时3例患者BFMDRS总评分、运动评分及功能障碍评分均有下降,术后3-6个月3例患者BFMDRS总评分、运动评分及功能障碍评分改善最明显,改善率达到90％以上,6个月后疗效稳定.结论 STN- DBS治疗3例Meige综合征患者效果理想,可以成为治疗Meige综合征的一种选择.     

Meige综合征15例临床分析

Meige综合征是成年人发病的局限性肌张力障碍。由于Meige综合征临床少见 ,易误诊 ,治疗效果差。现将我院 1990 0 1～ 2 0 0 2 0 1收治 15例病例分析如下 :1　临床资料与方法1 1　一般资料　本组男 5例 ,女 10例 ,年龄 42～ 60岁 ,平均5 7 5岁 ,病程 3个月～ 4a。1 2　临床表现　阵发性双眼睑痉挛 11例 ,其中 6例由单眼开始 ,表现为双眼紧闭与不自主眨眼 ,眼裂变小 ,瞬目增多 ,畏光 ,双眉紧皱。痉挛发作 5～ 2 0次 /min ,持续 3～ 12s。睡眠、放松、讲话、转移注意力时减轻 ;精神紧张、疲劳、注意力集中时加重 ,有时看人需用手将双侧眼睑…     

Meige综合征7例临床分析

Meige综合征又称特发性眼睑痉挛-口下颌肌张力异常(BS-OMD)综合征,1910年由Henry Meige首先描述,临床较少见,易被误诊为神经官能症等,且治疗比较困难.现将我科自1991～1998年诊治的7例报告如下.     

Meige综合征6例临床分析

Meige综合征为发生于成年人的局限性肌张力障碍,其起病隐匿,是渐进性发展,神经科及眼科检查常无异常发现,诊断和治疗均十分困难,容易误诊。 临床资料 一、一般资料 自2000年1月～2001年1月我院收治6例Meige综合征患者,男2例,女     

脑深部电刺激双侧苍白球治疗Meige综合征3例并文献回顾

目的： Meige综合征是一种特发性累及头面部的肌张力障碍,有时也会影响到颈部。脑深部电刺激（DBS）双侧苍白球内侧部（GPi）治疗肌张力障碍的报道比较多,但治疗Meige综合征的很少。方法对3例双侧GPi-DBS术后的Meige综合征患者进行随访4、6和60个月。所有患者术前术后均采用国际通用的Burke-Fahn-Marsden Dystonia Rating 量表（BFMDRS）评分,包括BFMDRS-Ⅰ（Movement 量表）和BFMDRS-Ⅱ（Disability量表）两个部分。结果3例Meige综合征患者手术后症状均有明显改善,BFMDRS第一部分和第二部分评分的改善率分别为（78±3．1）％（范围75％～83％）和100％。结论双侧GPi-DBS是治疗原发性Meige综合征的一种有效安全的手术方式。     

Meige综合征临床误诊二例

Meige综合征属锥体外系的一种少见疾病,在1910年首先由法国神经病学家Meige描述,典型特征是眼睑痉挛及口-下颌肌肉不自主运动等.临床上常被误诊为面肌痉挛、神经官能症、重症肌无力等.为引起同道的高度重视,现将2例误诊的病历报道如下.     

POEMS综合征20例临床分析

目的 总结POEMS综合征的临床特点及治疗措施,旨在提高其诊治水平.方法 对20例POEMS综合征患者的一般资料、临床表现、化验及辅助检查结果进行回顾性分析.19例患者使用糖皮质激素治疗,其中9例予静脉输注大剂量免疫球蛋白观察疗效;另1例患者单独使用了硫唑嘌呤.结果 全部患者均有多发性神经病,其他临床表现包括:皮肤改变、内分泌病、皮肤水肿、脏器肿大;M蛋白阳性率为6/13.治疗后9例患者症状有所减轻.单用糖皮质激素及糖皮质激素合用免疫球蛋白的治疗效果无显著性差异.结论 POEMS综合征是一种较少见的多系统损害综合征.诊断有一定困难,应对其加强认识,对疑诊病例需进行必要的检查,以免误诊;免疫球蛋白对其无明显疗效.     

Meige综合征14例临床分析和文献复习

目的观察Meige综合征的临床特点、诊疗经过,复习相关文献以提高对本病的认识。方法分析14例Meige综合征的临床表现、诊疗和预后。结果14例眼睑痉挛型9例,眼睑痉挛合并口下颌肌张力障碍型4例,口下颌肌张力障碍型1例。结论Meige综合征应和干眼症、面肌痉挛、手足徐动症、口舌运动障碍、重症肌无力等相鉴别;氟哌啶醇、泰必利联合应用治疗Meige综合征有效。     

5例成人MELAS型线粒体脑肌病的误诊原因分析

目的 分析成人MELAS的误诊原因.方法 回顾分析5例成人MELAS的临床特点.结果 成人MELAS的临床症状、体征及影像学表现多样,早期症状不典型,易误诊为其他神经系统疾病.结论 对于临床症状无法解释的中青年卒中、癫痫患者首先应考虑该病.     

Application of electrophysiological methods and magnetic resonance tomographic angiography in the differentiation between hemifacial spasm and Meige syndrome

Bilateral hemifacial spasm and Meige syndrome can be easily confused due to their similar clinical manifestation. Here, we aimed to investigate the application of electrophysiological methods and magnetic resonance tomographic angiography (MRTA) in the differentiation between hemifacial spasm and Meige syndrome. 10 patients with bilateral hemifacial spasm and 9 patients with Meige syndrome received electrophysiological monitoring of nerves. There were two males and eight females with bilateral hemifacial spasm, aged 16–58 years with a course of 5–54 months. For the patients with Meige syndrome, there were three males and six females, aged 51–68 years with a course of 12–36 months. All patients received conventional MRTA of the brain blood vessels before decompression. We found that all patients with Meige syndrome showed synchronous contraction of bilateral orbicularis oculi muscles and (or) burst discharge from orbicularis oris muscles in surface electromyography (sEMG). However, those with hemifacial spasm presented with bilaterally asynchronous burst discharge. Electromyography for patients with Meige syndrome did not record abnormal muscle response (AMR), but recorded AMR for those with bilateral hemifacial spasm. The offending vessels were compressed in patients with hemifacial spasm in MRTA, while MRTA results were generally negative for those with Meige syndrome. Combining sEMG and AMR detection in EMG and MRTA, bilateral hemifacial spasm can be differentiated from Meige syndrome with a reduction of misdiagnosis rate.     

Pallidal deep brain stimulation in the treatment of Meige syndrome

Background –  Pallidal deep brain stimulation (DBS) of globus pallidus internus (Gpi) has emerged as an effective treatment for dystonia. The experience is however limited concerning focal dystonias and to date only a few cases of pallidal DBS in the treatment of Meige syndrome have been published.
Methods/results –  We here present a patient with Meige syndrome in whom unilateral pallidal DBS failed to improve the axial symptoms, but bilateral stimulation resulted in a major improvement. The Burke-Fahn-Marsden score (BFM) improved by 71.5% and the patient's blepharospasm was abolished.
Conclusions –  The results suggest bilateral pallidal DBS may be an effective treatment for Meige syndrome.     

Bilateral pallidal stimulation for idiopathic segmental axial dystonia advanced from Meige syndrome refractory to bilateral thalamotomy.

Meige syndrome is an adult-onset dystonic movement disorder that predominantly involves facial muscles, while some patients with this syndrome develop spasmodic dysphonia and dystonia of the neck, trunk, arms, and legs. We report that all dystonic symptoms that had been refractory to both pharmacotherapy and bilateral thalamotomy were markedly alleviated by bilateral pallidal stimulation in a patient with segmental axial dystonia advanced from Meige syndrome.     

Bilateral pallidal deep brain stimulation in primary Meige syndrome

Primary Meige syndrome is an idiopathic movement disorder that manifests as craniofacial and often cervical dystonias. Deep brain stimulation (DBS) of the globus pallidus internus (GPi) has emerged as a powerful surgical option in the treatment of primary generalized or segmental dystonia. However, the experience with GPi-DBS in Meige syndrome is limited. We followed 5 patients with disabling Meige syndrome treated by bilateral GPi-DBS for 49?±?43.7 (mean?±?SD) months. All patients were assessed before surgery and at the last follow-up after surgery using the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) which includes both the movement and disability scales. Bilateral GPi-DBS produced a sustained and long-lasting improvement in dystonia symptoms associated with Meige syndrome. At?the last follow-up, the mean scores of BFMDRS movement and disability scales improved significantly by 84?±?6.8% (range, 75-94%) and 89?±?8.1% (range, 80-100%), respectively. Bilateral pallidal stimulation is a beneficial therapeutic option for long-term relief of the disabling dystonia symptoms in Meige syndrome.     

Clinical features of paroxysmal kinesigenic dyskinesia: Report of 24 cases

Paroxysmal kinesigenic dyskinesia (PKD) is the most common type of paroxysmal dyskinesia and is characterized by involuntary, intermittent movements induced by sudden movements. Here, we describe 24 patients with PKD, whose clinical data were analyzed. The attacks of involuntary movements were all short lasting, and could involve extremities, trunk, neck, or face without alteration of consciousness. The motor function was normal between attacks, and in some cases, attacks could be evoked during examination. Most patients had normal electroencephalogram (EEG) and neuroimaging results, but 2 cases had abnormal EEGs, and another 2 cases had bilateral calcification of basal ganglion on brain computed tomography (CT) scans. Previous history of misdiagnosis was a predominant feature, while treatments based on misdiagnosis sometimes did lead to improvement. Here, we discuss the clinical characteristics, especially the abnormalities of investigations and misdiagnosis, and recent insights into the pathophysiology of PKD.     

35例韦尼克脑病临床分析

目的探讨韦尼克脑病(Wernicke’s encephalopathy,WE)的病因、临床表现、磁共振特征、误诊原因和治疗转归。方法回顾性分析我院2012年10月~2015年6月收治的35例WE患者的临床资料。结果饮酒是WE最常见原因,其次是胃、胆囊、胰腺病变导致呕吐和进食差。具有典型的精神意识障碍、眼肌麻痹、共济失调三联征者占11.4%,具备三联征中两项者占42.9%,仅有三联征中一项者占45.7%。头部MRI可见双侧丘脑、侧脑室周围、导水管周围、第三脑室、四脑室旁、乳头体、皮质、胼胝体等部位对称性异常信号。本组患者的误诊率达60%,其中酒精中毒性WE误诊率为54.17%,非酒精中毒性WE误诊率为72.73%。住院期间91.42%患者(32/35)好转,8.58%患者无好转。出院5 m时9例失访,随访的26例中6例死亡(死亡率23.07%),13例痊愈(50%),5例遗留记忆力障碍,2例完全卧床。结论 WE病因及临床表现多样,MRI有特征性改变,但早期误诊率高,预后与是否诊断和治疗及时密切相关。     

Meige syndrome: double-blind crossover study of sodium valproate.

A double-blind crossover study of sodium valproate and placebo was conducted in five patients with Meige syndrome. CSF neurotransmitter studies were performed at the end of each treatment period. GABA levels were not influenced by the administration of sodium valproate. An increase in HVA levels was observed in every patient, which may reflect an increase in central dopaminergic activity. This finding may explain the trend towards clinical deterioration which was observed during treatment with sodium valproate. Sodium valproate appears to be ineffective in Meige syndrome.     

CBT治疗以发作性腹痛为特征的转换障碍1例

本文探讨以发作性腹痛为特征的转换障碍的诊治要点、误诊原因及治疗方案.以躯体不适为主要症状的转换障碍在综合医院中易被误诊,且缺乏有效的对症治疗手段,造成患者身心痛苦及医疗资源浪费.本文回顾性分析1例以发作性腹痛为主要症状的转换障碍患者的发病原因、诊断过程、治疗方案及治疗效果.案例提示,转换障碍患者以躯体不适为主诉时,会影...     

Sustained relief of dystonia following cessation of deep brain stimulation.

We describe the unusual clinical course of a patient with cranial dystonia (i.e., Meige syndrome) and additional upper limb involvement, who developed sustained relief of motor symptoms following cessation of a prolonged course of bilateral pallidal deep brain stimulation (DBS). Early response to therapy proved titratable and reversible; however, the patient gained independence from DBS in the fifth postoperative year and has since been more than a year without treatment or exacerbation of motor symptoms. Among the potential explanations for these neurological benefits lies the intriguing possibility that DBS therapy may have the capacity to induce plastic change that lessens or obviates the need for further treatment in susceptible patients.     

Electrophysiological signatures predict clinical outcomes after deep brain stimulation of the globus pallidus internus in Meige syndrome

ObjectiveDeep brain stimulation (DBS) of the globus pallidus internus (GPi) has been shown to be a safe and effective alternative therapy for ameliorating medically refractory primary Meige syndrome. However, the associations between DBS target position and surrounding electrophysiological properties as well as patients’ clinical outcomes remains largely unknown. In a large number of patients, we investigated electrophysiological features around stimulation targets and explored their roles in predicting clinical outcomes following bilateral GPi-DBS.MethodsThe locations of DBS active contacts along the long axis of the GPi in a standard space were calculated and compared among three groups with different clinical outcomes. The firing rates of individual neurons within the GPi were calculated for each patient and compared across the three groups.ResultsCompared with the bad group (poor clinical outcome), active contacts in the good group (good clinical outcome) and the best group (best clinical outcome) were located in the more posterior GPi. The average firing rates in the good and best groups were significantly higher than in the bad group, and this difference was pronounced within the ventral GPi. For the bad group, the average firing rates were significantly lower in the ventral than in the dorsal GPi.ConclusionsThis study suggests that DBS of the posterior GPi may produce better clinical outcomes during primary Meige syndrome treatment and that higher GPi neuronal activity, particularly within the ventral part, can be used as a biomarker to guide DBS electrode implantation during surgery.