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目的总结儿童肌阵挛-站立不能性癫痫(MAE)的临床、脑电图特征及治疗。方法对2006年1月至2010年10月北京大学第一医院儿科住院治疗的12例MAE患儿临床表现、脑电图特征及治疗效果、预后进行分析。结果 12例中男11例,女1例;发病年龄1岁3个月至3岁9个月,平均(32.3±9.9)个月。其中5例有热性惊厥或癫痫家族史。所有患儿在发病前智力运动发育正常,颅脑磁共振成像(MRI)未见器质性病变,发病后出现多种全面性癫痫发作形式,包括强直-阵挛、肌阵挛、失张力、肌阵挛-失张力、不典型失神、强直发作。12例患儿均有肌阵挛-失张力及不典型失神发作。6例病程中曾有非惊厥性癫痫持续状态(NCSE)。发作间期脑电图呈慢波背景,广泛性棘慢波或多棘慢波。丙戊酸(VPA)单药或联合其他抗癫痫药如拉莫三嗪(LTG)对部分患儿有效,促肾上腺皮质激素(ACTH)可能有效。随访1个月至4年7个月,7例发作已控制1个月至3年,5例仍有发作;起病后智力正常7例,精神发育迟滞5例。结论 MAE是一种特发性全面性癫痫综合征,多在5岁前起病。肌阵挛-失张力为其特征性发作形式,病程中常出现NCSE。临床表现结合发作期脑电图及同步肌电图可明确诊断...     

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??Abstract?? Objective To study the electro-clinical features and prognosis of the variants of benign childhood epilepsy with centro-temporal spikes??BECT??. Methods Sixty-seven patients with BECT variants were diagnosed in the hospital. They have been followed up for 2 to 10 years.The clinical information, including clinical manifestation??video-EEG??the response to the medical treatment?? and the prognosis of the patients, was studied. Results The onset of the seizures in these patients was from 1 year and 6 months to 10 years?? and the median age was 4 years and 5 months. The symptoms of BECT variants presented from 2 years and 6 months to 10 years and 6 months??the median age was 6 years. The EEGs of all patients showed abundance of spike and waves in Rolandic areas during wake-up and sleep.In 25 cases ??37.3%????the index of discharge in non-rapid eye movements??NREM??was more than 85%.In 42 cases??62.7%????the index was between 50% and 85%.Epileptic negative myoclonus??ENM??was detected in 51 cases??76.1%??by the outstretched arm tests during the EEG recording.All the patients were treated with antiepileptic drugs??AED????only 10 cases were seizure free?? and the seizure frequency decreased more than 50% in 5 cases.There were no responses in the other 52 cases.Then the corticosteroid was administered to 50 cases who were resistant to AED. Among them??21 cases were seizure free; in 25 cases??the seizure frequency decreased more than 50%?? and only 4 cases had no response to this treatment. Fourteen cases??28%??relapsed 1 month to 1 year and 2 months after corticosteroid therapy.Six months after the corticosteroid therapy?? verbal intelligence quotient??VIQ??and performance intelligence quotient??PIQ??increased??P??0.05??.A long time follow-up of 60 school-aged children showed that 30 cases??50%??had poor school performance. Neuropsychological assessment was performed on 25 cases?? and the cognitive decline was observed in 20 cases??80%??. Conclusion BECT variants should be considered in patients with BECT when the seizure frequency increases and new types of seizures present.EEG deterioration and cognitive decline often accompany simultaneously.Seizures are difficult to control with antiepileptic drugs.Corticosteroid therapy is effective in most of the patients. Clinical manifestations??EEG and cognition improve within 6 months after the therapy, but relapse rate is a little bit higher. The long term prognosis of BECT variants is unsatisfying in cognitive function and behavior.     

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??Abstract??Objective??To summarize the clinical features and prognosis of epilepsy in children with MMA. Methods??From Jan. 1997 to Dec. 2009 in Department of Pediatrics??Peking University First Hospital??the medical records of hospitalized MMA patients complicated with epilepsy were retrospectively reviewed. The clinical manifestations??laboratory examination results??and treatment modalities were analyzed. Results??From 63 pediatric inpatients diagnosed with MMA??27 children ??42.9%?? complicated with epilepsy were enrolled in this study. These 27 patients were also accompanied with other neurological manifestations?? including mental retardation or regression ??n = 22????lethargy ??n = 10????increased muscle tone ??n = 8????muscle hypotonia ??n = 8????recurrent vomiting ??n = 4????tremor ??n = 2????ataxia ??n = 2????and abnormal posture ??n = 1??.The onset age of seizure ranged from 8 days to 11 years. The seizure types included partial seizure??n = 21????generalized tonic-clonic seizure ??n = 5????tonic seizure ??n = 3????myoclonic seizure ??n = 3????and epileptic spasm ??n = 2??. Five patients had 2 or 3 seizure types. Nine patients ??33.3%?? had a history of status epilepticus. EEG showed slow background activity in 17 patients??focal or multifocal discharges in 16 patients??generalized discharges in 4 patients??hypsarrathmia in 2 patients??and suppression-burst pattern in 1 patient. Cranial MRI showed cerebral atrophy ??n = 14????white matter changes ??n = 12????agenesis of corpus callosum ??n = 2????abnormal signal in basal ganglia ??n = 2????and cerebellar atrophy ??n = 1??. Twenty-one patients were MMA combined with homocysteinemia.Seventeen patients were confirmed with cobalamin C disease and one with partial mutase deficiency ??mut-??. Vitamin B12-responsive patients had a better outcome compared with vitamin B12-unresponsive patients. Conclusion??Epilepsy is a common manifestation of patients with MMA.Partial seizures is more common than other seizure types.Urine organic acid analysis should be performed for children with unknown cause of epilepsy combined with other neurological manifestations?? so as to promptly identify the etiology and improve the prognosis.     

婴儿良性癫癎的临床观察和远期随访研究

目的 研究婴儿良性癫痫的发作特征,脑电图及治疗反应,探讨早期诊断方法。方法 对出生后3-24个月内起病,排除热性惊厥,症状性癫痫及发育异常的婴儿惊厥进行临床观察及寻像脑电图（VEEG）监测,并随访治疗效果和远期预后,结果 42例经2年以上随访确诊为婴儿良性癫痫,其中3例有良性婴儿惊厥家族史,19%惊厥伴有轻微腹泻,67%为短期内频繁发作,无癫痫持续状态,3例VEEG监测证实分别为起源于颞区,枕区及多灶性的部分性发作,发作间期脑电图背景正常,24%睡眠中有Rolandic区小棘波,39例接受抗癫痫单药治疗,平均用药时间9个月,3例未用药物治疗,起病1年内发作均消失,结论 起病早期具有以下特征应考虑有婴儿良性癫痫的可能;（1）起病年龄在3-12个月,不超过24个月,可有婴儿良性惊厥家族史;（2）发病前后精神运动发育正常;（3）发作无诱因,或仅有轻度腹泻等非特异性感染;（4）以部分性发作为主,可继发全身性发作,起病时发作可以很频繁,但无癫痫持续状态;（5）发作间期脑电图背景正常,无典型癫痫样放电,可有睡眠期Rolandic区小棘波;（6）神经影像学正常。     

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目的 探讨Gastaut型儿童枕叶癫痫(COE-G)的临床及脑电图特点.方法 随诊分析2004年6月至2008年6月遵义医学院附属医院儿科7例确诊为COE-G患儿的临床、脑电图特点及对治疗的反应.结果 9岁左右起病,临床特征为较频繁的日间视觉症状,常有头眼偏斜及偏头痛症状.3例伴偏侧阵挛,仅1例泛化为全身发作:患儿均有日间发作,2例夜间也有发作,脑电图示枕区为主的后头部高幅痫性放电,常为闭眼诱发,睁眼抑制:1例对多种抗癫痫药物反应不佳,2例伴认知问题.结论 COE-G起病较晚,较具确切特征表现,良性预后尚值得怀疑.     

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目的探讨晚发型癫痫性痉挛患儿的临床和脑电图(EEG)特征、治疗反应及预后。方法对北京大学第一医院儿科2000年6月至2007年8月59例晚发型癫痫性痉挛患儿的临床和EEG资料进行回顾性研究,其中37例有随访,随访时间13～90个月,末次随访年龄为2岁6个月至12岁2个月(中位数60个月)。结果59例患儿癫痫起病年龄为12～98个月,中位年龄22个月。以痉挛发作起病36例(61.0%),以其他发作类型起病23例(39.0%)。17例(28.8%)在病程中有部分性发作,22例(37.3%)合并其他全面性发作形式,20例(33.9%)病程中仅有痉挛发作。EEG14例(23.7%)为典型高度失律;2例(3.4%)为一侧性高度失律;43例(72.9%)无典型的高度失律。总计22例(37.3%)表现为局灶性或一侧性临床、影像学和(或)EEG异常。44例(74.6%)为症状性癫痫,围生期脑损伤、中枢神经系统感染、脑结构异常为主要病因。14例(23.7%)符合晚发型West综合征,7例(11.9%)符合Lennox-Gastaut综合征。促肾上腺皮质激素(ACTH)治疗后近期无发作率32.0%,有效率58.0%,复发率为61...     

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??Abstract??Objective??To study the electroclinical features of the variants of benign childhood epilepsy with central temporal spikes ??BECT??. Methods??Video electroencephalography ??EEG?? monitoring was performed in 29 BECT patients who had some atypical symptoms during the course of the disease?? and some of them were examined simultaneously with electromyography ??EMG??. The seizure semiology?? electrophysiological features??responses to antiepileptic drugs and corticosteroids were analyzed. Results??The onset age of partial seizures during sleep was from 2 to 8 years. The atypical symptoms following disease onset was from 2 to 57 months. The clinical presentations of the variants of BECT included hand trembling and objects dropping ??n = 27???? head nodding and instability or dropping attack during standing ??n = 4???? speech deterioration ??n = 13???? oromotor deficits ??n = 11???? and aphasia ??n = 3??. Cognitive decline could be observed in 18 cases. The typical rolandic seizures were exaggerated in 14 patients during atypical symptoms occurrence. The EEG of all 29 patients showed abundance of spike and waves ??SW?? in rolandic areas during wake-up and sleep. The SW index was 50????85?? during slow sleep in all cases. Video EEG monitored epileptic negative myoclonus ??ENM?? in 27 patients confirmed by outstretched arms test?? atypical absences with secondary bilateral synchronous 2??3 Hz spike-wave rhythms during ictal EEG in 11 patients. Valproic acid only or combined with clonazepam?? levetiracetam or lamotrigine were effective in 11 patients. The clinical symptoms and EEG SW were improved in 18 patients by adding corticosteroid therapy. Conclusion??The clinical presentations of the variants of BECT include ENM?? atypical absences?? oral pharynx apraxia and cognitive deterioration. The clinical presentations are associated with EEG deterioration. Antiepileptic drugs therapy or combined therapy with corticosteroids is effective in improving electroclinical manifestations of the variants of BECT.     

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??Objective??To study the clinical features and SCN1A genes detection results in children with Dravet syndrome in order to provide reference for clinical treatment. Methods??The clinical data??SCN1A genes reports and antiepileptic drug effects of 60 DS children who were diagnosed from December 2013 to December 2015 were collected from the Children’s Hospital of Fudan University. Results??The onset of seizures occured during 1-9 months with a median of 6 months and 83.3% of patients were febrile seizures at frist onset??they were heat sensitive??and hot water bath induced seizures in 63.3%??38/60??. There were multiple phenotypes??including generalized tonic-clonic seizures??95.0%??57/60????partial seizures??alternating unilateral seizure????78.3%??47/60????status epilepticus??65.0%,39/60????myoclonic seizures??65.0%??39/60????and atypical absence ??63.3%??38/60??. Seizure ouccurred most frequently??2-3 times per month?? in 1-3 years of age. The median age of mental retardation was 18 months. The number of mental retardation and the positive rate of EEG increased with age. Dravet syndrome were intractable. In patients who used sodium ion blocking drugs 40.0%??24/60?? children had aggravated seizures. 80.0%??48/60?? patients had SCN1A mutation with missense and nonsense mutation accounting for over a half. There was no correlation between SCN1A mutations and onset age??sex??seizure type or seizure frequency. Conclusion??Dravet syndrome is a childhood-onset epileptic encephalopathy??which is not rare in the national seizure center. The positive rate of SCNIA mutation is high??which can help the diagnosis of DS. Anti-epiletic drug treatment for DS is difficult and the misuse of drugs is in a high proportion??so the diagnosis and treatment level still needs to be improved.     

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目的 探讨常染色体显性遗传夜间发作性额叶癫痫(ADNFLE)家系的临床特点.方法 收集2000年1月至2007年12月就诊于广东省人民医院儿科癫痫专科门诊6个ADNFLE家系资料,详细调查及建立家系图,并对患者的临床资料进行总结分析.对临床发作和癫痫综合征进行分类.结果 6个家系共有59名成员接受调查,结果 发现患者24例,存活22例,其中男9例,女13例;年龄6～74岁,平均年龄31岁,中位年龄21岁,男女患病率差异无统计学意义(χ2=0.413,P>0.05).存活22例患者中,20例表现夜间丛集短暂运动性发作,脑电监测显示额区尖慢波发放.1例由简单部分性发展为强直性发作.1例患者表现为夜间睡眠中运动性发作伴自动症.结论 ADNFLE主要临床表现为夜发性、丛集性、短暂性运动性癫痫.     

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目的通过对127例婴儿痉挛患儿的临床诊治和随访结果资料分析,了解婴儿痉挛的诊断治疗与预后之间的关系,为婴儿痉挛的临床诊治和预后判断提供依据。方法采用回顾性资料分析和前瞻性队列研究,对1998年1月至2002年12月在复旦大学儿科医院收治的婴儿痉挛患儿进行分析和随访,对影响其预后的相关因素进行分析。结果共有127例婴儿痉挛患儿进入研究。起病年龄为(6·1±3·1)个月,患儿随访时间(38±8)个月;72·4%为症状性,宫内发育迟缓、先天脑发育畸形、出生时窒息为主要病因,脑发育不全、智能发育迟缓多见;27·6%为隐原性或原发性。脑电图表现为高峰节律紊乱、弥漫或局灶性棘慢波发放。促肾上腺皮质激素(ACTH)、丙戊酸钠、氯硝基安定、硝基安定、苯巴比妥、托吡酯、拉莫三嗪为常用的治疗药物。在症状性婴儿痉挛中,76·1%预后不良,原发性或隐原性婴儿痉挛中,有60·8%的病例发作得到控制;有明确病因、起病年龄<3个月、起病前发育落后、EEG背景活动变慢或有局灶性棘慢波发放,可能提示婴儿痉挛预后不良。结论婴儿痉挛多为症状性,有明确病因、起病年龄<3个月、起病前发育异常、EEG背景活动变慢或有局灶性棘慢波发放,与婴儿痉挛预后不良有关。