31例青少年肌阵挛性癫痫临床表现脑电图特点及误诊分析

目的 回顾性分析31例青少年肌阵挛性癫痫(JME)患者的临床、脑电图特点及误诊原因.方法 收集2008年9月～2011年1月在我院癫痫诊治中心诊治的31例JME患者,对其临床表现、脑电图改变及药物治疗疗效进行总结性分析.结果 31例患者表现单纯肌阵挛发作者12例;肌阵挛伴全身强直-阵挛发作者15例;肌阵挛伴失神发作者4例.长程录像脑电图检查,24例患者于监测过程中出现肌阵挛发作,脑电见与发作同步的对称性、泛化性多棘慢波、棘慢波爆发.既往就诊中诊断为全身强直-阵挛发作者17例,抽动症者8例,部分性发作者4例,正常者2例.依据发作类型给予治疗后肌阵挛症状1w内消失者13人;2w内消失者11人;1个月内消失者6人,每月内均有3～4次肌阵挛发作者1人.继发的全身强直-阵挛性发作,半年内消失者20例;1年内消失者11例.结论 青少年肌阵挛性癫痫,以短暂的、无节律性、不规则的肌阵挛抽动为特点,由于症状不典型容易造成误诊,长程录像脑电图检查,附加闪光刺激、睡眠剥夺等诱发试验,提高阳性诊断率,对症治疗效果好.     

癫痫伴肌阵挛-失张力发作的临床及脑电图特征分析

目的探讨癫痫伴肌阵挛-失张力发作(epilepsy with myoclonic-atonic seizures,EMAS)的临床及视频脑电图特点,以提高对该病的认识。方法对2017年12月-2018年12月吉林大学白求恩第一医院小儿神经科收治的6例EMAS患儿临床及脑电特征进行回顾性分析。结果 6例EMAS患儿中,男5例,女1例;发病前智力运动发育正常,影像学正常。发病年龄2岁2个月～6岁,确诊时间2个月～1年6个月。6例患儿至少有肌阵挛、肌阵挛-失张力、失张力发作、不典型失神发作中两种发作形式。其中4例在上述发作前或后出现强直-阵挛发作,1例在病程晚期有强直发作。6例患儿中5例背景活动正常; 1例背景活动偏慢。6例患儿的脑电图在清醒期及睡眠期均出现广泛性2～4 Hz棘慢波、多棘慢波不规则或节律性发放,睡眠期放电有时类似高度失律,均无局灶性发作。所有患儿影像学检查均正常。6例患儿均给予正规抗癫痫药物治疗,其中2例治疗反应良好,4例治疗无效后给予甲基强的松龙治疗,其中3例有效缓解,1例虽然没有发作仍有大量放电。结论 EMAS好发于学龄前期儿童,癫痫发作类型主要包括肌阵挛、失张力或肌阵挛-失张力发作,但不典型失神等,脑电图主要为广泛性棘慢波、多棘慢波发放,治疗以抗癫痫药物和激素治疗为主,预后相对较好。     

青少年肌阵挛癫痫和睡眠肌阵挛的比较研究

目的比较分析青少年肌阵挛癫痫(JME)和睡眠肌阵挛(SM)的临床和脑电图(EEG)特点.方法对20例JME患者和25例SM进行分析.结果JME多见于青春期发病,有遗传性,男女无差别,常在清醒时表现为双侧单一或反复的不规则无节律的肌阵挛发作,无意识障碍,可伴全身强直阵挛性发作(GTCS),少有失神,易被剥夺睡眠和闪光诱发,EEG示快而弥漫的不规则棘慢波和多棘慢波复合;SM可见于各年龄组,在入睡不久出现肢体或手指不自主、无规律地抽动一下,双侧不同时出现,发作频率和动作幅度不等,EEG监测在肢体抖动时,亦无异常放电.结论JME是一种遗传性、与年龄相关的以肌阵挛发作为主的癫痫综合征,其预后好;SM是一种无需治疗的生理现象.     

儿童肌阵挛失神癫痫脑电图五例

目的 总结儿童肌阵挛失神癫痫(MAE)的临床表现,视频脑电图(VEEG)特征,治疗方案及预后转归等特点。方法 分析2010年1月至2019年12月于首都医科大学宣武医院收治的5例MAE患儿的临床资料和特点。结果 5例患儿中2例男孩,3例女孩。发病年龄中位数9 (3～11)岁。临床表现中5例患者均以MA为突出表现,其中4例为双上肢节律性肌阵挛抽动,另1例为口轮匝肌及双上肢同时受累。发作具有突发突止的特点且发作频繁,每日可发作数次至10余次。住院期间所有患儿均进行VEEG检查,记录到5例患儿均存在典型的双侧对称同步的3Hz棘慢复合波阵发,同步肌电记录到与肌阵挛有锁时关系的肌电爆发。5例患儿在诊断明确后进行抗癫痫治疗,所有患儿均在治疗后癫痫发作频率减少,随访2～6年,5例患儿均无临床发作,智力运动发育正常,EEG复查均无癫痫样异常放电。结论 MAE以肌阵挛失神为突出表现,EEG特点为双侧对称同步的3Hz棘慢复合波阵发,同步肌电图记录到与肌阵挛有锁时关系的肌电爆发。尽早合理的应用抗癫痫药物可有效的控制患儿发作,改善预后。     

成年期确诊的青少年肌阵挛性癫痫的临床特点

目的分析成年期确诊的青少年肌阵挛性癫痫(JME)的临床特点。方法对75例成年期确诊的JME患者进行回顾性分析。结果 75例患者43例有误诊经历,最长误诊时间达26年。75例患者均有肌阵挛发作(MJ),其中2例仅有MJ发作,2例合并失神发作(AS),57例合并全面强直-阵挛发作(GTCS),14例三种发作形式均有。EEG检查75例均发现全导广泛性棘慢或多棘慢复合波,23例有局灶性放电。23例既往曾服用卡马西平、奥卡西平、苯妥英钠或拉莫三嗪出现发作增多现象。随访0.5~4年,51例选择丙戊酸钠、托吡酯或左乙拉西坦单药治疗无发作,8例患者选择两种以上药物方能控制,5例停药后复发。结论JME多见于青少年期,步入成年期后误诊率更高。JME临床表现以MJ为主,常伴有GTCS或AS,EEG为弥漫性3.5~5 Hz棘慢波或多棘慢波,部分有局灶性放电。治疗可选择丙戊酸钠、托吡酯或左乙拉西坦,而卡马西平、奥卡西平、苯妥英钠可加重临床发作。JME患者停药后复发率高,推荐患者终身服药。     

少年肌阵挛癫痫

少年肌阵挛癫痫是特发性全身性癫痫中最常见的类型之一,漏诊、误诊率相当高。临床主要表现为肌阵挛发作,伴全身强直阵挛发作及失神发作。脑电图典型发作为对称、同步的多棘慢波。病因学研究提示遗传因素的关键作用,已有6p21.3、6p11-12、6q24、15q14等4个染色体区域被证明与之相关。该征对丙戊酸治疗相当敏感,合理用药,预后良好     

8例家族性皮质肌阵挛震颤性癫痫临床特点分析

目的分析家族性皮质肌阵挛震颤性癫痫(FCMTE)的临床特点。方法对8例FCMTE患者的临床资料进行回顾性分析,总结家系的临床特点、遗传特征。结果 8例FCMTE患者,连续3代发病,男女均受累,均30岁以后起病,先后出现震颤、全面强直-阵挛发作。其中,5例伴头痛,6例有肢体震颤,4例有情绪焦虑,1例有共济失调症状。8例均于30岁以后癫痫发作,呈强直-阵挛发作。4例刺激左右正中神经记录的躯体感觉诱发电位(SEPs)可见巨大电位,未见C-反射。结论 FCMTE呈常染色体显性遗传,均发生于成人,表现为四肢末端细微震颤、强直-阵挛性癫痫发作,光刺激、情绪激动或惊吓时可诱发。服抗癫痫药有效,服用β受体阻滞剂或饮酒无效,为非进展性病程。神经电生理检查提示肌阵挛或震颤来源于大脑皮质。     

肌阵挛失神发作1例并文献复习

目的:探讨肌阵挛失神发作的临床症状学、神经电生理学特点及治疗效果.方法:报告1例肌阵挛失神发作的临床表现、脑电图、肌电图特点及治疗效果,并结合文献进行回顾性分析.结果:肌阵挛失神发作临床表现为失神伴双侧节律性肌阵挛,常伴发肢体的强直,脑电图表现为双侧、广泛、节律性3 Hz的棘慢复合波,肌电图则表现为与发作期放电频率一致的肌电暴发.此类患者对药物治疗反应较差,伴有强直发作的患者可行胼胝体切开术,该手术可有效减少强直发作导致的跌倒.结论:肌阵挛失神发作病程多样,大部分患者药物治疗反应差,伴有强直发作的患者可以考虑手术治疗.     

青少年肌阵挛性癲痫20例临床特点分析

目的 研究青少年肌阵挛性癫痫患者(juvenile myoclonic epilepsy,JME)的临床及脑电图特点,探讨JME诊断要点.方法 回顾性分析在宣武医院癫痫门诊就诊的20例JME患者,总结其一般特点、发作类型及脑电图特点.结果 20例患者均有肌阵挛发作,部分合并全面强直一阵挛发作或典型失神发作.16例患者的脑电图可见全导爆发出现的棘慢波或多棘慢波,其中4例合并局灶性的异常.导致漏诊的最主要因素是肌阵挛发作的病史询问欠详.结论 JME的正确诊断主要依据其临床特点,询问肌阵挛发作的病史以得到诊断的关键信息,脑电图只是辅助的诊断工具.     

67例青少年肌阵挛临床与VEEG的局灶性特征分析

目的总结青少年肌阵挛癫痫(juvenile myoclonic epilepsy,JME)的临床与VEEG的局灶性特征。方法回顾性分析厦门大学附属中山医院就诊的67例JME患者临床症状与24小时长程视频脑电图的局灶性特征。结果 67例患者中,11.94%的肌阵挛发作(MJ)存在一侧或不对称肌阵挛抽动,13.11%的全面强直-阵挛发作(CTCS)出现不对称体征;24 h VEEG监测到的发作中,46.80%的MJ及66.67%的GTCS出现不对称或及局灶症状;发作间期的不对称及局灶性EEG占44.7%。局灶性EEG的棘波、棘慢波最常出现在额区。31例患者服药后复查VEEG,不对称及局灶EEG比例增加至64.52%。结论 JME有高度的临床异质性,临床医生应警惕其临床及EEG的局灶性特征,避免误诊。     

Correlative Study of Interictal Electroencephalogram and Aura in Complex Partial Seizures

To understand further relationships of the interictal electroencephalogram to the aura in complex partial seizures (CPS), we studied the interictal EEG and aura in 144 patients with CPS. The ages of the patients studied ranged from 31 to 80 years (average 52.44 years). The duration of seizures ranged from 1 to 60 years (average 15.69 years). Seventy patients (49%) reported auras which were classified according to the guidelines recommended by the Commission of the International League Against Epilepsy. Statistical analysis revealed no relationship between presence, laterality, or localization of EEG abnormality and the number or type of aura. The results emphasize that more factors than electrophysiologic localization alone participate in the determination of aura in CPS. Our data support the position that aura has, at most, a limited relationship to lateralization or localization of interictal cerebral dysfunction in CPS.     

Familial temporal lobe epilepsy autosomal dominant inheritance in a large pedigree from southern Italy

To further elucidate the inheritance pattern and range of phenotypic manifestations of benign familial temporal lobe epilepsy (FTLE), we report a large family recently identified in southern Italy. There were 8 patients (4 men), ranging in age from 31 to 68 years in three generations. One affected patient was deceased at the time of the study. Genealogical study strongly supported autosomal dominant inheritance with incomplete penetrance, as three unaffected individuals transmitted the disease. Clinical anticipation could not be assessed because of the ascertainment method. Male to male transmission occurred. Identifiable antecedents for seizures were present in only two patients, who had a simple febrile convulsion and a closed head trauma, respectively. Migraine was overrepresented in this family. Onset of seizures ranged from 17 to 52 years (mean: 27 years). All patients had weekly simple partial seizures suggestive of temporal origin with vegetative or experiential phenomena. Very rare partial complex seizures occurred in 6/7 patients. One had two generalized nocturnal seizures as well. Two had previously been misdiagnosed as having gastritis or panic attacks, and one had not been diagnosed. Interictal anteromesiotemporal spiking was seen in 5/7 patients, and occurred mostly during NREM sleep. Neurological examination, brain CT or MR scans were normal. Antiepileptic medication always controlled the seizures.     

Evolution of seizures and electroencephalographical findings in 23 cases of deletion type Angelman syndrome

Angelman syndrome (AS) is a genetic disorder with characteristic clinical and EEG findings. We report here the results of long-term follow-up studies on the epileptic seizures and EEG findings of 23 cases of deletion type AS confirmed by FISH analysis, including seven cases previously reported by Matsumoto et al. in 1992. The age at last follow-up in 23 patients was from 1 to 37 years of age (average: 18.0 years), with 10 patients (43.5%) in their 20s, and five over 30. Epileptic seizures were seen in all patients, and the age at seizure onset ranged from 3 to 50 months (average: 21.7 months). Status epilepticus was seen in 11 patients (47.8%). The percentages of cases seizure-free for more than 3 years were 25% (4/16) at 10 years of age, 70% (7/10) at 20, and 80% (4/5) at 30. The EEG findings were classified into six patterns according to the previous report: N (no spike, including focal slow waves), HVS (diffuse high-voltage slow bursts with or without spikes), F (focal spikes or multifocal spikes), S (diffuse spike and waves), C (continuous diffuse spike and waves), Hy (hypsarrythmia or hypsarrhythmia like waves). Hy was noted at ages 0-2 years in two cases. C was observed from the ages 2 to 15 years, being most frequently noted at 3-6 years of age, and it was never seen after 16 years of age. S was observed from ages 1 to 21 years. F was seen from 2 to 21 years of age, and most frequently during the ages of 2-7 years. HVS was seen from 0 years, and still remained after the age of 20. After 22 years of age, all patients showed N pattern including focal slow waves. One of the two patients who had bilateral frontal dominant delta slow waves in their 30s, had a recent seizure. Even if the spikes disappear with age, when bi-frontal focal slow waves remain, seizures may occur even in patients over 30.     

The value of video-EEG monitoring to diagnose juvenile myoclonic epilepsy

ObjectiveA diagnostic accuracy of conventional electroencephalography (EEG) is approximately 50% at best. We aimed to determine the accuracy of video-EEG monitoring (VEM) for a correct diagnosis and the feasibility of its clinical application. The data from all 55 patients (M:F = 31:24) with juvenile myoclonic epilepsy (JME) who underwent VEM were reviewed according to the clinical history, brain imaging and video-EEG findings.ResultsAge at seizure onset ranged from 10 to 25 (15.5 ± 2.7 years). The age at VEM ranged from 15 to 46 (21.8 ± 5.8 years) and 57% (29/51) showed seizures. Of those, 20 patients (69%) showed myoclonic jerks alone, whereas 3 (10%) showed generalized seizures alone. Both of these conditions were observed in 6 patients (21%). Interictal abnormalities alone without clinical seizures were detected in 16 patients (31%). Atypical semiologies such as asymmetric myoclonus or versive seizures were observed in 18 patients (35%) during video monitoring. Interestingly three patients complained of visual aura on history. The duration of VEM ranged from 1 to 6 days (1.8 ± 1.1). Overall, 88% of patients showed an EEG abnormality with/without seizure, concordant with JME. Among 10 patients with a normal conventional EEG before VEM, 9 showed interictal or ictal EEG abnormalities during approximately 1-day of VEM.ConclusionsVEM for 1 or 2 days is appropriate for making a correct diagnosis of JME, especially in patients having an atypical semiology and a normal result on the conventional EEG.     

Clinical and EEG evaluation of mid-line spikes in childhood

We studied the clinical and electroencephalographic (EEG) characteristics of 45 patients with mid-line spikes. The incidence of mid-line spikes was 3.0% in total EEG population in childhood. Sex incidence was equal. First appearance age of mid-line spikes ranged from one month to 12 years, with a mean of 5.0 years old. Fz focus was in 3 patients, Cz in 31 and Pz in 11. Thirty two of the 45 patients (71%) had a history of clinical seizures; 16 with febrile convulsions and 16 with epileptic seizures. Of the remaining 13 patients without a history of seizures, the EEG was obtained because of post-meningitis in 4, developmental delayed in 4, migraine in 1 and miscellaneous in 4. Mid-line spikes might not have so strong correlations with clinical seizures. Ten patients had a family history of epilepsy and/or febrile convulsion. In the patients with seizures, generalized tonic-clonic seizures were the most frequent type (18; primary GTC and 10; secondary GTC with partial onset). Elementary symptoms of partial seizures were very variable (focal motor in 5, Jacksonian march in 1, aversive in 1, autonomic in 2 and automatism in 5), and which might be related to the other lesions such as temporal and/or frontal lobes. Seizure control was almost good except for two patients with organic brain damage. And other neurological symptoms were not also progressive. On EEG findings, twenty-two patients had midline spikes as their only epileptiform abnormality. The remaining twenty-three had an additional epileptiform feature, either a focal spikes or a generalized spike-wave.(ABSTRACT TRUNCATED AT 250 WORDS)     

Benign versive or circling epilepsy with bilateral 3-cps spike-and-wave discharges in late childhood

Twenty-eight of 920 patients seen between the ages of 8 and 20 years for a first seizure manifested versive or circling events associated with bilateral rhythmic 3-cps spike-and-wave discharges. In 21 (75%), the seizures appeared between the ages of 10 and 14 years. Paroxysmal adversion or gyration was always toward the same side in a given patient. "Break of contact" during the ictus was found in 70% of the seizures, and secondary generalization occurred in half. Ictal electroencephalographic recordings failed to show a focal hemispheric origin. Additional features were: absence of prior major diseases; normal results of neurological and neuroradiological examinations; excellent response to anticonvulsant treatment with sodium valproate and/or phenobarbital; frequent family history of epileptic seizures (25% of patients); and association with generalized seizures (57.2% of patients). We conclude that versive or circling epilepsy with bilateral rhythmic 3-cps spike-and-wave discharges represents a benign form of primary generalized epilepsy in late childhood.     

婴幼儿睡眠期Rolando区小棘波的临床特征和预后

目的：分析婴幼儿视频脑电图（V-EEG）中睡眠期罗朗多（Rolando）区小棘波的临床特征和预后,企为临床提供参考。方法：选择2012年4月～2013年5月潍坊医学院附属医院和临沂市人民医院儿科神经电生理室的31例睡眠期Rolando区小棘波的患儿的临床资料并随访治疗效果和预后。结果：31例中,男17例,女14例。起病年龄3～22个月,中位数12个月。其中良性婴儿癫痫9例（29％）,伴有轻度胃肠炎的良性婴儿惊厥6例（19％）,单纯热性惊厥9例（29％）,复杂热性惊厥3例（10％）,当天曾注射百白破及脊髓灰质炎疫苗引发高热惊厥1例（3％）;既往有重症小脑脑炎并发癫痫发作史1例（3％）,非癫痫发作2例（7％）。7例有惊厥家族史,其中1例有良性婴儿癫痫家族史,3例有热性惊厥家族史。21例未治疗,10例接受抗癫痫药物单药治疗,发作均被控制,其中1例已停服12个月,1例已停服6个月,随访均无复发。结论：婴幼儿期Rolando区小棘波对癫痫的诊断没有特异性,但与癫痫发作具有相关性,所有患儿短期预后良好。     

Clinical and inheritance profile of familial childhood epilepsy in Jordan

PurposeTo present the clinical profiles and inheritance patterns of familial childhood epilepsy in the highly consanguineous population of Jordan.MethodsThis retrospective study examined children diagnosed with epilepsy and having at least one epileptic parent or sibling. The epilepsy type was classified according to the criteria of the International League Against Epilepsy. Patients were monitored for a period of 6 months to 5 years.ResultsThe study population included 39 children belonging to 31 families; 21 boys (53.8%) and 18 girls (46.2%). The age at onset ranged from one month to 16 years. Generalized seizures were observed in 23 patients (58.9%), partial seizures in 14 patients (35.8%); and generalized and partial seizures in two patients (5.1%). Seizure control was achieved in 33 patients (84.6%), and 13 patients (33.3%) were seizure-free for at least two years. Withdrawal of antiepileptic medication was successful in five of these 13 patients (38.5%), while seizures recurred in the other eight (61.5%) on withdrawal. The consanguinity rate among parents of affected children was 61.3%. Pedigree analysis suggested probable autosomal dominant (AD) inheritance with or without reduced penetrance in 13 families (41.9%), probable autosomal recessive (AR) inheritance in 6 families (19.4%), and an X-linked recessive inheritance (XR) in one family.ConclusionsThis is the first report on familial epilepsy involving first degree relatives in Jordan. Genetic testing including exome sequencing could help in reaching the accurate diagnosis and may also reveal novel autosomal recessive genes associated with pediatric idiopathic epilepsy.     

Autosomal dominant lateral temporal epilepsy: clinical spectrum, new epitempin mutations, and genetic heterogeneity in seven European families

PURPSOE: To describe the clinical and genetic findings of seven additional pedigrees with autosomal dominant lateral temporal epilepsy (ADLTE). METHODS: A personal and family history was obtained from each affected and unaffected member, along with a physical and neurologic examination. Routine and sleep EEGs, computed tomography (CT), or magnetic resonance imaging (MRI) were performed in almost all the patients. DNAs from family members were typed with several microsatellite markers localized on either side of LGI1 at 10q24 and screened for LGI1 mutations. RESULTS: The seven families included a total of 34 affected individuals (10 deceased). The age at onset ranged between 8 and 50 years (average, 22 years). Twenty-six patients had clear-cut focal (elementary, complex, or secondarily generalized) seizures, characterized by prominent auditory auras in 68% of the cases. Less frequent ictal symptoms were visual, psychic, or aphasic seizures, the latter occurring in isolation in one family. The attacks were rare and well controlled by antiepileptic drug treatment but recurred after drug discontinuation. Interictal EEGs were usually unrevealing. MRI or CT scans were negative. Analysis of LGI1/Epitempin exons failed to show mutations in three pedigrees. Linkage analysis strongly suggested exclusion of linkage in one of these families. We found two novel missense mutations, a T-->C substitution in exon 6 at position 598, and a T-->A transition in exon 8 at position 1295, the latter being detected in a family with aphasic seizures. CONCLUSIONS: Our data confirm the inclusion of aphasic seizures within the ADLTE clinical spectrum, suggest the existence of locus heterogeneity in ADLTE, and provide new familial cases with LGI1 missense mutations associated with the disease.     

Pure sleep seizures: risk of seizures while awake.

PURPOSE: To estimate the risk of seizures while awake in pure sleep epilepsies - a long follow-up study. METHODS: Fifty five patients (60% male), with pure sleep epilepsy were followed up for at least ten years. Patients younger than 18 years of age were excluded. The primary endpoint was the occurrence of seizures while awake, after a period of 10 years or longer suffering from pure sleep seizures. RESULTS: The duration of the pure sleep seizures ranged from 10 to 67 years (median 22). The patients had been followed in our Department for a mean of 12 years. Patients' ages ranged from 18 to 88 years (median 50); 44% of patients suffered from apparently generalized seizures. Epilepsy was considered undetermined in 38.2%, focal cryptogenic in 38.2%, and focal symptomatic in 21.8%. There was a single case of idiopathic generalized epilepsy. In the last evaluation, 35 patients were on monotherapy and two were not receiving treatment. Seizure frequency was < 1/year in 65.5%; 1-10/year in 14.5%; > 1/month in 9.1%. Seventeen patients (30.9%) had suffered one or more seizures while awake. Multivariate analysis showed that sudden withdrawal of treatment (p < 0.032) and polytherapy (p < 0.18) were associated with an increased risk of seizures while awake. CONCLUSIONS: In spite of a small number of seizures and good response to monotherapy, a third of the patients studied suffered seizures while awake. The significant risk factors were sudden withdrawal of treatment and polytherapy.