SLC6A1突变致儿童癫痫伴肌阵挛-失张力发作1例报告

<正>癫痫伴肌阵挛-失张力发作(epilepsy with myoclonic-atonic seizures, EMAS)既往称为肌阵挛-站立不能性癫痫(myoclonic-astatic epilepsy)或肌阵挛-失张力癫痫(myoclonic-atonic epilepsy, MAE)。EMAS是1970年由德国医生Doose等首次报道,所以也被称为Doose综合征^[1]。     

青少年肌阵挛癫痫脑电图的多尺度特征分析

目的 运用子波分析的方法研究青少年肌阵挛(juvenile myoclonic epilepsy,JME)脑电图信号的多尺度定量特征.方法 对12例JME患者痫性放电的脑电图信号采用Gauss连续子波变换(Gauss continuous wavelet transform, GCWT)进行分解,观察放电过程中脑电信号时频演变过程,在此基础上进行子波功率谱分析,并将上述结果与正常对照脑电图分析结果进行对比研究.结果 JME患者痫性放电的脑电信号经GCWT,均显示0.6 Hz和4.5 Hz显著增强的节律性活动,且两个频带上的节律性活动明显相关,0.6 Hz的低频活动以正相支开始,随后出现负相支,最后以正相支结束;而正常对照在0.023～34.68 Hz均可见节律性活动.通过子波谱分析发现JME患者痫性放电在0.6 Hz和4.5 Hz出现两个窄且高的功率峰;而正常对照的脑电信号在0.05 Hz, 1.35 Hz和10 Hz存在三个宽而低的功率峰.结论 JME患者痫性放电的脑电信号的多尺度特征表现为0.6 Hz和4.5 Hz显著增强的节律性活动,且这一特征可由子波功率谱分析证实.     

肌阵挛-失张力癫痫1例追踪随访及文献复习

肌阵挛-失张力癫痫(myoclonic-atonic epilepsy,MAE)是以肌阵挛失张力性发作为主要特征的婴幼儿癫痫综合征,于1970年由Doose首次报道,故又称Doose综合征,过去称肌阵挛-站立不能性癫痫,2010年ILAE将其更名为肌阵挛-失张力癫痫[1]。该病发病率低,约占儿童癫痫的1%～2%[2],发作形式多样,预后不一。且国内相关报道较少,我科成功诊治1例幼儿MAE,结合相关文献报告如下。     

遗传性肌阵挛-肌张力障碍综合征的研究进展

遗传性肌阵挛-肌张力障碍综合征(HMDS)是一种少见的运动异常综合征，为常染色体显性遗传性疾病。多在20岁前发病，发病比例男女相同，总的人群发病率未知。曾被命名为遗传性特发性肌阵挛、家族性肌阵挛、特发性家族性肌阵挛、良性特发性肌阵挛、乙醇反应性肌阵挛——肌张力障碍等。Mahloudjhi和Pikielny 1967年首次提出此病诊断标准迄今已达     

进行性肌阵挛癫痫7例临床分析

目的：分析进行性肌阵挛癫痫（PME）的临床特点。方法：回顾性分析7例PME患者病案。结果：①PME于童年或青少年起病。②随病情进展所有患者均有不同程度的智能减退。③癫痫发作形式：全身性、局灶性或节段性的肌阵挛，无规律、不同步、不对称的；通常合并全身强直-阵挛发作或部分性发作。④有小脑、锥体束等神经系统受累症状。结论：PME主要临床表现除癫痫、肌阵挛和进行性神经功能衰退外，礼堂发作也是比较明显的症状，脑电图检查是必不可少的。对某些患者及亲属进行乳酸运动试验有助于本病中线粒体病（MERRF）型的诊断。     

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     

眼睑肌阵挛发作的临床及视频脑电图特点

<正>眼睑肌阵挛伴或不伴失神发作(Eyelidmyoclonia with or without absences,EM or EMA)由Jeavons于1977年首次描述,并命名为Jeavons综合征[1,2],但未受广泛认可。2001年国际抗癫痫联盟(ILAE)的癫痫发作分类将EM伴或不伴失神归为全面性发作类型[3]。2010年ILAE癫痫发作分类将眼睑肌阵挛归类为失神发作。参考国外多个中心的研究,Jeavons综合征并不少见[2～4],而我国对该病报道较少。我     

表现为腹肌肌阵挛的癫痫部分性发作1例报告

表现为腹肌肌阵挛的癫痫部分性发作临床罕见，现报告1例如下。     

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.     

Clinical and electroencephalographic features of simple partial seizures

The clinical and electroencephalographic features of 87 simple partial seizures in 14 patients were studied with video-EEG telemetry. The patients were able to respond to verbal stimuli during all seizures and, later, could clearly recall ictal events. To determine whether the EEG changes in simple partial seizures could be reliably observed, a reader blindly reviewed four EEGs of equal duration for each seizure. These EEGs consisted of one ictal and three nonictal recordings obtained at predetermined times before the seizure. There were 27 motor seizures (mean duration, 86 seconds; range, 2 to 250 seconds), all involving clonic movements of the head and/or upper extremities; 8 (30%) of these had a sensory component (pain in 6, paresthesia in 2). An EEG change, usually localized spikes or sharp waves over the contralateral or both rolandic regions, was identifiable in nine (33%) of the motor seizures. The 60 nonmotor seizures (mean duration, 63 seconds; range, 8 to 375 seconds) involved a variety of symptoms, including somatosensory/special sensory (3 seizures), autonomic (26 seizures), cognitive (1 seizure), affective (14 seizures), and mixed, or more than one category of nonmotor symptoms (16 seizures). In only nine (15%) of the nonmotor seizures was there an ictal EEG change, usually localized spikes or paroxysmal theta activity over the temporal region. Overall, among the 87 simple partial seizures, only 18 (21%) revealed ictal EEG changes. Thus, a normal EEG is common during simple partial seizures and does not exclude the diagnosis.     

Clinical and electroencephalographic features of complex partial seizures in infants

The clinical and electroencephalographic (EEG) features were evaluated in a consecutive series of 50 infants with complex partial seizures. The age of onset of seizures showed a peak at age of 2 months. Significant development delay was seen in 60% of the infants. In 92% an underlying aetiological factor could be identified. Birth asphyxia was the commonest aetiological factor (30%). The seizure patterns were most frequently described as behavioural arrest, upward deviation of eyes, tonic posturing of the limbs, apnoea and cyanosis. Interictal EEG showed bilateral temporal lobe foci in 22%, unilateral foci in 78% and multiple foci in 46% of the cases. The response of the seizures to anticonvulsant drugs is discussed.     

Symptoms in focal sensory seizures. Clinical and electroencephalographic features.

PURPOSE: Aura is a brief subjective symptom that may represent the initial manifestation of a partial epileptic seizure with objective signs or constitute the entire epileptic attack (focal sensory seizure (FSS)). We studied the electro-clinical features of FSSs recorded in 28 patients. METHODS: Using long-term surface video-EEG recordings, we examined 28 patients (from a consecutive series of 64) with stereotyped FSSs and complex partial seizures (CPS) preceded in at least one instance by identical subjective manifestations (overall 255 FSSs and 39 CPS were recorded). FSSs were subdivided according to the type of sensation into somatosensory, visual or oculosensory, viscerosensory, experiential, cephalic and diffuse warm sensations. The EEG discharges accompanying FSSs were examined by two of the authors either blinded as to the type and timing of the seizure, or unblinded, i.e. after receiving complete clinical information including timing of the patient's warning. RESULTS: The ictal pattern accompanying FSSs was identified blind in 13 patients and unblind in 8 patients. In seven patients, the ictal discharge remained undetected. In the cases with recognizable ictal abnormalities, two main patterns could be distinguished, static and dynamic. FSSs whose ictal discharge could be recognized by blind EEG examination more frequently consisted of somatosensory and visual or oculosensory manifestations, and the discharge generally involved the centro-parieto-occipital regions. The ictal discharge of viscerosensory and experiential FSSs more easily remained undetected; when identified, it generally involved the fronto-temporal regions. CONCLUSIONS: FSSs are often accompanied by ictal abnormalities recognizable on surface EEG. A thorough knowledge of their EEG accompaniments may be a useful diagnostic aid in patients with partial epilepsy.     

老年脑卒中患者癫痫发作的临床特点、脑电图表现及其危险因素分析

目的探讨老年人群脑卒中后癫痫(PSE)发作的临床特点、脑电图表现及其危险因素,为癫痫的早期预防提供依据。方法选取儋州市人民医院收治的脑卒中患者1485例,最终纳入患者992例,分析患者的临床特点及脑电图表现。根据脑卒中后癫痫发作情况,将其分为癫痫发作组87例和无癫痫发作组905例。应用单因素及多因素Logistic回归分析PSE的危险因素。结果 PSE的发生率为8.77%,其中早发型癫痫占55.17%,迟发型癫痫占44.83%。PSE发作的脑电图呈弥散性异常占26.44%,局限性异常占48.28%。单因素及多因素Logistic回归分析显示,高同型半胱氨酸血症、病灶部位、病灶范围、电解质紊乱、日常生活能力及NIHSS评分≥25分是PSE发作的独立危险因素,其OR(95%CI)值分别为2.063(1.146~3.125)、6.285(5.168~9.047)、4.725(3.684~6.835)、3.029(2.016~4.532)、2.538(1.568~3.562)和3.163(2.085~4.726)。结论老年人群脑卒中后癫痫发作的发生率较高,影响癫痫发作的危险因素较多,对存在危险因素的患者应高度警惕其癫痫的发生。     

Clinical and electroencephalographic characteristics of children with febrile seizures plus

OBJECTIVES: Febrile seizures plus (FS+) are attracting attention for their corresponding genetic abnormalities, and are defined as febrile seizures (FS) continuing beyond 6 years of age (late FS) or those associated with afebrile seizures. We tried to elucidate their clinical and EEG characteristics as compared with those of children having only FS. SUBJECTS AND METHODS: We reviewed clinical records in a pediatric neurology clinic to identify 31 patients with FS+ (group FS+) and 51 with only FS (group FS). Their family history of seizures, clinical features and EEG findings were compared. RESULTS: A family history of seizures was noted in 14 patients (45.2%) of group FS+ and in 24 (47.1%) of group FS. In group FS+, 19 patients had late FS, 11 had afebrile seizures, and the remaining one had both types of seizures. Two patients had seizures induced by TV/video-game as well, and another suffered from absences. Epileptic EEG abnormalities, which included diffuse spike-waves and focal spikes, were noted in 13 patients (41.9%) of group FS+ and 12 (23.5%) of group FS. CONCLUSIONS: The clinical and EEG characteristics of the children having FS+ were diverse, without significant differences from those with FS except for the seizures types.     

Absence seizures in children: clinical and electroencephalographic features

The clinical and electroencephalographic (EEG) features of absence seizures in children were evaluated using EEG frequency modulation radiotelemetry and videotape monitoring. The only seizures evaluated were those with a spike-and-wave or multiple spike-and-wave duration lasting at least 3 seconds. A total of 926 absence seizures (426 typical, 500 atypical) were reviewed in 54 patients. Abnormal interictal EEGs, multiple seizure types, mental retardation, or developmental delay were more likely in patients with atypical absence seizures than in patients with typical absence seizures. Both types of absence seizures usually had a clear onset and cessation. Atypical absence seizures lasted significantly longer than did typical absence seizures. Automatisms occurred more frequently in typical absence seizures than in atypical ones, while decreases in postural tone or tonic activity occurred more frequently in atypical absence seizures. Receptive and expressive speech were retained in some patients during both types of seizures. This study demonstrates that typical and atypical absence seizures are not discrete entities but rather form a continuum. No single clinical feature can adequately distinguish the two seizure types.     

全面性癫癎伴热性惊厥附加症的临床和脑电图特征分析

目的探讨全面性癫伴热性惊厥附加症(GEFS )的临床和脑电图(EEG)特点。方法收集4个GEFS 的家系资料,通过详细的调查建立完善的家系谱,并对受累者的临床资料、EEG进行分析总结。结果4个家系共有60名成员,其中受累者20例,表现为FS者5例,FS 者7例,FS 与失神发作2例,FS 与肌阵挛发作1例,FS 与失神和肌阵挛发作1例,此例患者发作间期EEG呈现局灶性癫放电和全面性癫放电共存的现象,1例表现为FS 和部分性发作,其发作间歇期EEG呈现中央中颞棘波灶,个体诊断符合良性罗兰多区癫。另外,受累者有肯定的临床发作,但是由于不能收集到可靠的发作表现资料,无法进行发作分类者3例。受累者神经系统检查以及头颅CT或磁共振成像(MRI)检查均未见异常。结论GEFS 的正确诊断需要注重个体,立足于整个家系进行,其临床发作谱还包括部分性发作,脑电图也有局灶的癫样放电。良性罗兰多区癫也许是GEFS 的一个新表现型。     

Clinical and electroencephalographic features of patients with polymicrogyria.

Polymicrogyria is a malformation of cortical organization. The aim of this historic cohort study was to describe clinical and EEG features of patients with polymicrogyria. Patients underwent clinical and neurologic examination and a prolonged routine EEG to allow recording during sleep. Neuroimaging data were classified as: perisylvian polymicrogyria (subdivided into holosylvian, posterior parietal, and generalized), hemispheric polymicrogyria, and frontal polymicrogyria. Forty patients were studied: 16 with holosylvian polymicrogyria, 14 with posterior parietal polymicrogyria, 4 with generalized polymicrogyria, 3 with hemispheric polymicrogyria, and 3 with frontal polymicrogyria. Patients with polymicrogyria usually did not have epilepsy and their EEGs were mostly normal (55%); the severity of the clinical and EEG features correlated with the extent of the cortical lesion. In perisylvian polymicrogyria, epileptiform abnormalities predominated in fronto-temporal regions. Dour patients had focal electrical status (FES) in awakeness and electrical status epilepticus of sleep (ESES); these four patients had right hemispheric polymicrogyria and asymmetric bilateral perisylvian polymicrogyria, mostly on the right hemisphere. The authors conclude that the EEG is usually normal in patients with polymicrogyria, despite it being associated with FES and ESES in certain patients.     

Sydenham's chorea and seizures. Clinical and electroencephalographic studies

The hospital records of 28 children (mean age, 9.4 years) with typical Sydenham's chorea were reviewed. Nineteen of 28 patients had antistreptolysin O titers of greater than or equal to 200 Todd units. Other causes of chorea were excluded by appropriate laboratory and clinical follow-up studies. At the onset of the movement disorder, 17 of 28 patients had abnormal EEGs consisting of irregular posterior slowing in 15, sharp epileptic spikes in 5, and high-voltage sharp waves in 2. Two patients with spikes predominantly in the temporal lobe regions developed complex partial seizures. On follow-up evaluation, the EEGs returned to normal within one to four weeks. Seizures did not recur after therapy with anticonvulsants. Seizures have been reported only rarely in association with Sydenham's chorea. Our observation suggests that seizures may occur during chorea but may often be masked by frequent choreic movements and thus not recognized. The EEG changes and seizures were transient in our patients studied so far.