Isaacs综合征临床分析

目的:探讨罕见的Isaacs综合征的临床特点、诊断及治疗方法。方法:对本院收治的9例lsaacs综合征的临床表现、实验室检查及治疗预后进行回顾性分析。结果:9例主要表现为自发性连续性肌肉颤搐,睡眠不消失。肌电图发现持续的自发运动电位发放。卡马西平或苯妥英钠控制症状较好。结论:颤搐表现结合肌电图是诊断本综合征关键,控制症状可用卡马西平或苯妥英钠,并可进行免疫治疗。     

2例Isaacs综合征报道并文献复习

目的 探讨Isaacs综合征的发病机制、临床特点、诊断及治疗.方法 报道2例Isaacs综合征患者并行文献复习分析.结果 2例均有自发性肌肉颤搐,睡眠时症状不消失.肌电图发现持续的自发运动电位发放的颤搐电位或(和)肌强直性放电.第二例患者尚见双侧正中神经、右胫神经F波未引出并有多条神经运动、感觉传导速度降低.卡马西平或苯妥英钠治疗后症状控制良好.结论 Isaacs综合征是一种自身免疫性疾病.肌肉颤搐及典型肌电图表现是诊断关键,卡马西平和苯妥英钠为首选治疗药物.     

Isaacs综合征5例报告并文献回顾

目的探讨Isaacs综合征潜在的发病机制、临床表现、诊断及治疗。方法回顾性分析2017年3月至2019年3月收治的5例Isaacs综合征患者临床资料,并进行相关文献复习。结果 5例患者均为男性,主要表现为肌肉颤搐、痉挛、多汗,4例予以卡马西平和泼尼松口服治疗,效果良好。结论 Isaacs综合征临床罕见,对症治疗和免疫治疗不可或缺。     

Isaacs综合征

<正> Isaacs综合征又称持续性肌纤维兴奋综合征(syndrome of continuous muscle fibreactivity)或神经性肌强直(neruomyotonia),是一种罕见的病因尚未明确的综合征。1961年由Isaacs H首次报道,本文总结1984-1998年间我国报道的16例Isaacs综合征患者的临床资料,现报告如下。     

45例Isaacs综合征临床与肌电图

目的分析少见的Isaacs综合征的临床特点厦肌电图表现并探讨其可能的发病机制。方法将1995～2005年10年间收治的45例Isaacs综合征的发病谤因、临床表现、电生理表现进行分析。结果45例患者中发病年龄多为青壮年,女性多见,主要表现为自发性连续性肌肉颤搐。睡眠时不消失并伴有多汗,少数伴发重症肌无力,胸腺瘤。免疫治疗有效。肌电图表现为持续的自发运动电位发放。结论Isaacs综舍征是一种自身免疫性疾病,病变部位可能为周围神经运动纤维、神经末梢运动终板厦运动纤维的末端。诊断主要靠临床表现结合肌电图。     

艾萨克(Isaacs)综合征3例诊治分析

目的 :探讨罕见的艾萨克 (Isaacs)综合征的临床特点、诊断及治疗方法。方法 :分析 3例艾萨克综合征临床表现、肌电图特点及治疗预后。结果 :3例均为青壮年女性 ,主要表现为自发性连续性肌肉颤搐 ,睡眠不消失 ,均伴多汗。肌电图发现持续的自发运动电位发放。卡马西平控制症状较好 ,免疫治疗有效。结论 :本综合征可能在女性中多见 ,颤搐表现结合肌电图是诊断关键 ,控制症状时用卡马西平可能优于苯妥英钠 ,并需进行免疫治疗     

Isaacs综合征1例报告

Isaacs综合征是一种罕见的由周围神经病变引起的自发性连续性肌肉活动综合征,具有独特的临床和肌电图特征。现报告1例如下。1病例女,24岁。因发作性双下肢肌肉颤动,伴疼痛、强直3个月,加重2个月于2010年1月18日入院。患者入院前3个月走路时突发双下肢肌肉不自主颤动,伴疼痛、活动困     

Isaacs综合征5例报道

Isaacs综合征是一种少见的自发性连续性肌肉颤动.现将我院近期收治的5例报道如下. 1临床资料5例患者男3例,女2例,年龄28～47岁,平均年龄38.6岁,病程2～24个月,平均10.4个月.3例以四肢肌肉抽动、疼痛为主诉,2例以双下肢肌肉抽动、疼痛为主诉.5例均有易出汗,休息后肌痛不适可缓解的特点,均无家族史,1例伴有肾病综合征.神经系统检查:颅神经无异常,受累肢体肌力3～5级,肌张力增高,呈板样强直者1例,余轻度增高或正常;腱反射消失者1例,减弱者3例,正常者1例,无病理征,四肢无感觉障碍.肌肉抽动波及全身者1例,波及四肢者4例.     

Isaacs综合征伴脊髓肿瘤

报道一例并发脊髓肿瘤的Ｉｓａａｃｓ综合征，主要表现两肢阵发性肌肉痉挛、持续性肌颤搐，并逐渐出现两下肢无力、麻木、肌 电示双侧股四头肌、胫前肌有自发的运动电位。肌活不神经源性肌萎缩。手术切除肿瘤，病理检查示星形胶质细胞瘤，术后病情有要转。结合文献复习了Ｉｓａａｃｓ综合征的临床表现、病因、病理及电生理等特点。对本例Ｉｓａａｃｓ综合征与脊髓肿瘤之间的关系作了探讨。     

Isaacs syndrome with CASPR2 antibody: A series of three cases

Isaacs syndrome is a form of peripheral nerve hyperexcitability, characterized by spontaneous muscle twitching and stiffness. Some patients are reported to be positive for CASPR2 antibody that may be one of the pathogenic autoantibodies in Isaacs syndrome. We reported a series of three patients with Isaacs syndrome, including their clinical features, electrophysiologic findings, laboratory parameters and therapeutic responses. All the three patients were positive for CASPR2 antibodies examined on transfected human embryonic kidney 293 cells by indirect immunofluorescence method. One patient had invasive thymoma. Symptomatic treatment was not sufficient for them, while immunotherapies including corticosteroids, double filtration plasmapheresis and rituximab provided favorable outcomes. The titers of CASPR2 antibody decreased after immune modulating therapy in parallel to clinical improvements in two patients.     

Isaacs syndrome: A review

Isaacs syndrome is a peripheral nerve hyperexcitability (PNH) syndrome that presents as continuous motor activity. Clinical findings include cramps, fasciculations, and myokymia. Electrodiagnosis plays a key role in diagnosis by demonstrating after‐discharges on nerve conduction studies, and fasciculation potentials, myokymic discharges, neuromyotonic discharges, and other types of abnormal spontaneous activity on needle examination. Etiopathogenesis involves the interaction of genetic, autoimmune, and paraneoplastic factors, which requires a broad‐ranging evaluation for underlying causes. Initial treatment is symptomatic, but immune therapy is often needed and can be effective. The purpose of this review is to describe the syndrome and its pathogenesis, assist the reader in evaluating patients with suspected Isaacs syndrome and distinguishing it from other disorders of PNH, and suggest an approach to management, including both symptomatic and immunomodulating therapy. Muscle Nerve 52 : 5–12, 2015     

Lambert-Eaton肌无力综合征45例临床及电生理回顾性分析

目的 通过对我院Lambert-Eaton肌无力综合征(Lambert-Eaton myasthenia syndrome,LEMS)患者的回顾性分析,分析此病的临床表现和伴发的神经电生理异常.方法 总结1993-2008年我院诊断的45例LEMS患者的一般情况、神经系统临床表现和体征、伴发的内科和全身疾病的情况.所有患者均进行神经电生理检测,包括神经传导速度(NCV)和重复神经电刺激(RNS).部分患者行针极肌电图和皮肤交感反射(SSR)检查.结果 (1)患者出现神经系统症状的平均年龄为(51.2±6.8)岁.最常见临床表现为双下肢无力(35例),其后依次为双上肢无力(10例)、构音障碍(3例)和颈肌无力(2例).神经系统体征中最常见为双下肢或上肢轻度力弱(40例),双下肢腱反射或跟反射减低或消失(38例)以及口干或便秘等自主神经症状(30例).(2)神经电生理检查:所有患者尺神经高频刺激递增达156% ～636%,其中29例同时出现低频递减.所有患者行NCV检查,感觉神经传导速度(SCV)异常或SCV合并运动神经传导速度异常者19例(42%).30例患者行针极肌电图检查,有异常发现者20例.25例行SSR的患者中发现13例异常.结论 LEMS最常见的临床症状为双下肢无力,其次为自主神经症状.患者除了有重复神经电刺激的异常,还伴有周围神经和肌肉的电生理异常以及自主神经系统的异常,提示临床表现可能混杂有神经或肌肉病变的原因.     

脑膜瘤致癫痫的临床和病理研究

目的：寻找继发性癫痫的病因和发病机理,从而提高疗效。方法：收集近１０年来因脑膜引起癫痫的病例５１例,将切除的标本作有目的的病理研究,并结合临床进一步分析研究。结果：经半年到１０年的随访,５１例中,满意４１例,显著改善６例,无改善１例。无法全切除的３例中,良好１例,无改变２例,总有效率达９４．１％。结论：脑膜瘤引发癫痫的原因可能为：（１）肿瘤位于运动、精神情感区。（２）因脑组织受损后,神经网络形成捷径。（３）局部微环境变化出现的体液改变三个因素,它们共同为局部异常放电提供条件,引发癫痫。要取得好的疗效,（１）必须争取肿瘤全切除并彻底清除侵入性部分瘤细胞;（２）充分保护正常脑组织、神经和血管。     

成人型Leigh综合征的临床和病理分析

目的 探讨成人型Leigh综合征的临床和病理特点.方法 通过1例死后确诊为成人型Leigh综合征病例的临床症状、影像学检查及病理检查,系统回顾成人型Leigh综合征的发病机制、临床表现、病理特点.结果 该患表现行动笨拙、反应迟钝、饮水发呛、言语不清.MRI表现对称性以壳核为主的基底节、脑干长T1长T2信号灶,边界清楚.尸检病理检查病变部位小血管增多,血管壁增厚伴玻璃样变性,星形细胞反应性增生,伴大量格子细胞浸润,神经元未见著变.结论成人型Leigh综合征属于线粒体病,是由于线粒体基因缺陷所致的致死性遗传性神经病.具有上述临床及影像学特点,加上血及(或)脑脊液乳酸水平升高,可以在生前临床诊断成人型Leigh综合征.而死后脑组织神经病理检查结果,尤其是脑干及(或)基底节神经核团典型病理改变,则是确诊依据.分子遗传学检查对于成人型Leigh综合征生前诊断具有确诊意义.     

POEMS syndrome: Clinical,pathological and immunological study of a case

Abstract

A young Italian woman with a POEMS syndrome is described. The patient had a plasma cell dyscrasia without clinical or laboratory evidence of multiple myeloma. The phenotypic analysis of bone marrow cells and peripheral blood lymphocytes revealed a normal pattern. The immunological study of CSF showed high levels of interleukin-6, whereas this cytokine was not detectable in the serum. Electrophysiological studies and sural nerve biopsy showed a mixed, demyelinating-axonal sensorimotor neuropathy with marked loss of large myelinated fibres. Long-term treatment with prednisone gave some clinical improvement. [Neurol Res 1994; 16: 477-480]     

低钾型周期性麻痹的临床及病理研究

目的 总结低血钾型周期性麻痹(hypoPP)的临床表现及其肌肉组织病理学改变的特点。方法 回顾分析42例hypoPP患者的主要临床表现及辅助检查，并对其中的3例行肌肉组织病理学检查。结果 总体来看，血钾越低患者临床症状及其他辅助检查变化也就越重、治疗效果越差，但患者的肌无力和腱反射的变化与血钾的变化并不完全平行，肌力下降也可不对称，2例患者出现呼吸肌麻痹，其中1例还同时伴有脑神经支配肌肉的受损，11例患者出现主观感觉障碍，54．5％(18／33例)的患者肌酸磷酸激酶(CPK)增高。患者骨骼肌病理学检查中可见空泡样肌纤维及管状集合物。结论 血清钾水平与肌无力症状不完全平行；主观感觉异常、CPK增高、恢复时间较长与肌肉组织的病理改变有关；不典型低钾型周期性麻痹应与吉兰—巴雷综合征、多发性肌炎等进行鉴别，必要时应进行骨骼肌病理学检查。     

Carbamazepine and phenytoin induced Stevens-Johnson syndrome is associated with HLA-B*1502 allele in Thai population

Purpose: Previous studies found a strong association between HLA‐B*1502 and carbamazepine (CBZ)‐induced Stevens‐Johnson syndrome (SJS) in Han Chinese, but not in Caucasian populations. Even in Han Chinese, the HLA‐B*1502 was not associated with CBZ‐induced maculopapular eruptions (MPE). This study seeks to identify whether HLA‐B*1502 is associated with CBZ‐ or phenytoin (PHT)‐induced SJS or MPE in a Thai population. Methods: Eighty‐one Thai epileptic patients between 1994 and 2007 from the Chulalongkorn Comprehensive Epilepsy Program were recruited. Thirty‐one subjects had antiepileptic drug (AED)‐induced SJS or MPE (6 CBZ‐SJS, 4 PHT‐SJS, 9 CBZ‐MPE, 12 PHT‐MPE), and 50 were AED‐tolerant controls. Results: For the first time, a strong association between HLA‐B*1502 and PHT‐induced SJS was found (p = 0.005). A strong association was also found between the HLA‐B*1502 and CBZ‐induced SJS (p = 0.0005), making Thai the first non‐Chinese population demonstrating such an association. Some patients, who were HLA‐B*1502 and suffered from CBZ‐induced SJS, could be tolerant to PHT and vice versa. This suggests that HLA‐B*1502 may be a common attribute required for a Thai patient to develop SJS from these two AEDs; other different elements, however, are also needed for each AED. In addition, no association between HLA‐B alleles and CBZ‐ or PHT‐induced MPE was found. Conclusions: CBZ‐ and PHT‐induced SJS, but not MPE, is associated with HLA‐B*1502 allele in Thai population.