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1.
目的 分析结节性硬化症(TSC)患儿的临床、视频脑电图(VEEG)和影像学特征.方法 对2000年6月-2010年6月在新疆维吾尔自治区人民医院儿科诊断为TSC患儿的临床资料,包括性别、年龄、民族构成、癫发作形式、皮肤损害情况和眼底情况等,以及头颅CT/MRI资料和VEEG.结果 41例TSC患儿中癫发作36例,癫的发生率为88.71%(36/41例),局限性发作为癫主要发作形式.VEEG异常者占77.78%(91/117例次),同一例患儿可见多种异常.TSC患儿头颅CT检查均有异常,均可见侧脑室外侧壁室管膜下结节状高密度影;23例TSC患儿头颅MRI异常,同一例患儿病变可以累及多个脑叶,并且病变范围较头颅CT更为广泛,头颅CT/MRI异常部位与VEEG的异常部位不完全相符.患儿眼底均未发现异常.结论 TSC患儿诊断主要依靠皮肤损害和头颅影像学检查,头颅CT/MRI检查对该病有诊断意义,但与VEEG的异常部位不完全相符,从经济学角度上认为行头颅CT检查更有价值.癫发作主要类型为局限性发作.  相似文献   

2.
目的 评价长程录像脑电图(VEEG)监测技术在小儿发作性疾病诊断及鉴别诊断中的应用价值.方法 收集2006年4月-2007年12月,因发作性事件就诊于本院门诊和住院患儿262例,对其进行常规脑电图(EEG)检查及VEEG监测,监测中和结束后对记录的VEEG进行分析,并与原拟的诊断行回顾性对比分析,根据发作间期EEG及临床发作特点确定为癫(癇)发作(ES)或非(癇)性发作(NES),比较常规EEG与VEEG判定结果的差异,评价2种检查方法在诊断儿童发作性疾病中的应用价值.采用SPSS 13.0软件进行统计学分析.结果 262例患儿记录到临床发作113 例,其中诊断更改为NES 4例,更改为癫(癇)3例;未记录到发作149 例,69例判定为未确定型.发作期同步EEG见(癇)性放电者79例(30.2%)判定为癫(癇)性发作事件.其中ES组76例,NES组3例;发作期同步EEG未见(癇)性放电者34 例(12.9%)判定为非癫(癇)性发作事件.其中ES组4例,NES组30例.常规EEG与VEEG(癇)样放电检出率和总异常率均有显著性差异.结论 与EEG比较,VEEG更有助于降低小儿发作性疾病的误诊、误治率,提高诊断的准确率及症状的控制率,对小儿发作性疾病的诊断和鉴别诊断具有重要价值.  相似文献   

3.
目的探讨儿童颈部肌阵挛伴失神发作的临床特征。方法回顾分析2例以颈部肌阵挛伴失神为发作类型的儿童癫痫的临床和脑电图特征,并复习相关文献。结果 2例均为男孩,起病年龄分别为7岁9个月、9岁10个月,出生史及生长发育史无异常,无遗传性疾病及癫痫家族史。头颅影像无异常。视频脑电图(VEEG)显示背景节律无异常,发作间期睡眠期记录到前头部或广泛性棘波、棘慢波,发作均表现为节律性摇头运动伴头颈向一侧偏转,伴意识障碍,持续约6~13 s;发作期脑电图为广泛性极高波幅3 Hz左右棘慢波节律爆发,一侧胸锁乳突肌伴有与棘波同步的约50 ms节律性肌电爆发且伴有强直电位,过度换气能诱发发作,无光敏感。基因检测无异常。患儿经丙戊酸钠治疗后发作控制。文献检索国外共报道经VEEG证实为颈部肌阵挛伴失神发作患儿4例,起病年龄为4岁9月~12岁,1种或2种抗癫痫药物治疗4个月~3年后发作控制。结论颈部肌阵挛伴失神发作是一种具有独立脑电-临床特征的全面性癫痫发作类型。  相似文献   

4.
目的 探讨小儿夜间发作额叶癫(癎)的正电子发射扫描(PET)与视频脑电图(VEEG)的特征及治疗后VEEG改变.方法 收集2005年6月-2008年6月本院儿科确诊的夜间发作额叶癫(癎)患儿37例(实验组),其他类型的夜间发作的癫(癎)患儿60例(对照组).记录二组患儿性别、发病年龄、发作频率、癫(癎)家族史.实验组予卡马西平或奥卡西平治疗,有过敏者予丙戊酸钠或托吡酯治疗.均行头颅PET检查,治疗前、治疗3个月行VEEG检查,实验组30例及对照组所有患儿行头颅MRI检查.结果实验组患儿PET存在额叶异常者24例(64.9%);实验组17例患儿PET为单侧异常,其中16例患儿VEEG(癎)性放电为单侧.实验组和对照组患儿PET与VEEG完全一致、部分一致、完全不一致的差异无统计学意义(P>0.05).19例PET正常或轻度异常患儿,VEEG清醒期有(癎)性放电8例,睡眠期放电8例,清醒和睡眠均放电3例;7例PET重度异常患儿,清醒期及睡眠期均有(癎)性放电6例,PET结果与VEEG(癎)性放电时期呈正相关(r=0.461 P<0.05).治疗后原7例PET正常患儿中5例VEEG为轻度异常;而7例PET重度异常患儿4例VEEG中度异常,3例重度异常,其PET结果与治疗后VEEG的异常程度呈正相关(r=0.410 P<0.05).结论夜间发作额叶癫(癎)患儿存在额叶异常,其PET检查结果与患儿的VEEG(癎)性放电的时间和部位相符、相关,PET重度异常的患儿治疗后VEEG仍较差.  相似文献   

5.
视频脑电图在睡眠相关发作性疾病中的诊断价值   总被引:1,自引:0,他引:1  
目的探讨视频脑电图在睡眠相关发作性疾病的诊断与鉴别诊断中的应用价值。方法收集2005年1月~2006年6月在我院儿科病房和门诊就诊的具有与睡眠相关发作性症状患儿65例。其中拟诊癫痫35例,非性发作性疾病30例。全部行常规脑电图(EEG)和视频脑电图(VEEG)检查。结果拟诊癫痫35例,性波阳性率VEEG为62.86%(22/35),EEG为17.14%(6/35),有显著性差异(χ^2=15.23P〈0.01);经EEG监测,结合其临床表现,确诊癫痫27例中,额叶癫痫2例,颞叶癫痫1例,儿童良性癫痫伴中央中颞区棘波7例;VEEG检查其中样放电22例(81.48%),睡眠期18例(81.82%),清醒期11例(50%),睡眠相关性癫痫睡眠期异常放电率高于清醒期(χ^2=4.96P〈0.05);共监测到发作22例,其中非癫痫性发作15例(睡眠肌阵挛10例、睡眠障碍3例、阵发性肌张力不全,生长痛各1例)。结论VEEG是鉴别发作性质及类型的最有效检查方法,也是鉴别癫痫与非癫痫性发作的有效方法。  相似文献   

6.
目的 分析儿童发作性睡病(NRL)临床特征及脑电图(EEG)特点。方法 2010年1月至2012年10月就诊于复旦大学附属儿科医院神经科门诊的28例诊断为NRL患儿,进行常规EEG、长程视频脑电图(VEEG)及多次睡眠潜伏试验(MSLT)检查;对曾经误诊病例,探讨其误诊原因。结果 28例均有不同程度多睡。19例(67.9%)有猝倒表现,2例(7.1%)伴睡前幻觉,1例(3.6%)伴醒时幻觉。1例(3.6%)伴睡眠瘫痪。28例EEG背景活动均正常,VEEG排除癫痫发作。MSLT结果:所有患儿平均睡眠潜伏期缩短,快速眼动相睡眠(REM)睡眠潜伏期缩短,28例均<5 min ,均有2次或2次以上睡眠开始时快速眼动相睡眠(sleep onset REM periods,SOREMP)。误诊分析:4例(14.3%)曾被误诊为眼肌型重症肌无力,6例(21.4%)曾被误诊为癫痫,1例(3.6%)曾被误诊为精神分裂症。14例轻症患儿予神经科门诊随访。1例存在多睡、猝倒、睡眠幻觉,家长未允其接受药物治疗,仅予行为指导。13例严重多睡患儿给予哌甲酯或哌甲酯缓释剂治疗,并结合行为指导。结论 儿童NRL临床并不少见,而一些小年龄起病者,因其发病初期症状较轻、临床表现不典型,容易误诊。应密切随访患儿临床症状变化,结合VEEG及MSLT等多种辅助检查进行分析,减少误诊。  相似文献   

7.
总结儿童良性癫痫伴中央颞区棘波(BECT)变异型的临床表现、脑电图特点和治疗。方法 1999年5月至2009年3月在北京大学第一医院儿科神经病房收治的BECT变异型患儿29例,其中男9例,女20例。对29例患儿临床资料进行分析,通过视频脑电图(VEEG)分析发作类型和脑电图(EEG)特点,18例同时监测双侧三角肌表面肌电图(EMG)。随访患儿对抗癫痫药物和皮质激素的治疗反应。结果 睡眠期部分性发作起病年龄2~8岁,出现不典型症状距首次发作的病程为2~57个月(平均21个月),不典型症状包括手抖、持物落地27例,点头、站立不稳或跌倒4例,语言表达障碍13例,口咽部运动障碍11例,完全失语3例,认知功能下降18例。14例出现不典型症状期间睡眠期部分性发作加重。29例患儿EEG均显示清醒和睡眠期大量Rolandic区棘慢波发放,慢波睡眠期棘慢波指数为50%~85%。VEEG监测到癫痫性负性肌阵挛27例(通过直立伸臂试验证实),不典型失神11例,11例应用抗癫痫药物(丙戊酸单用或联合应用氯硝西泮、左乙拉西坦或拉莫三嗪)治疗有效,18例联合应用抗癫痫药物和皮质激素临床症状和EEG放电改善。结论 BECT变异型的临床特点包括病程中出现负性肌阵挛、不典型失神、口咽部失用和认知功能下降,同时伴EEG恶化。单用抗癫痫药物或联合应用皮质激素治疗有效。  相似文献   

8.
正儿童交替性偏瘫(alternating hemiplegia of childhood,AHC)是一种严重的罕见的神经系统发作性疾病,于1971年首先被描述~([1])。文献报道AHC的发病率为1/1000 000~([2]),1993年Aicardi提出了该病的临床诊断标准~([3])。该病多数在生后18个月内起病,主要表现为发作性的眼球运动异常、反复交替性的偏瘫发作和肌张力不全、癫痫发作  相似文献   

9.
目的探讨额叶癫痫临床症状和视频脑电图(VEEG)特征及其与睡眠的相关性。方法 2010年10月至2011年1月中国医科大学附属盛京医院小儿神经内科确诊的27例额叶癫痫患儿,对VEEG监测期间的55次发作进行分析,发作特点及脑电图特征分别由有经验的临床医师和脑电图医师进行双盲分析。结果 22例中6例(22.2%)仅于清醒时发作,11例(50.0%)仅于睡眠时发作,清醒、睡眠无有发作5例(27.8%)55次癫痫发作表现复杂,运动症状突出,主要形式表现为过度运动性自动症23次(41.8%),伴不同程度意识障碍及发声16次(29.1%),姿势性强直发作15次(27.3%),口咽自动症14次(25.5%),先兆10次(18.2%),局部阵挛发作8次(14.5%),偏转性强直6次(10.9%),临床下放电5次(9.1%),发作后朦胧4次(7.3%),额叶失神3次(5.5%)。发作间期脑电图能定位于额叶者19例(70.4%)。51次监测到临床发作,脑电图表现为发作时或发作前瞬间脑电图改变为额区起源的局灶性痫样波发放。结论额叶癫痫是一组临床表现复杂多样的癫痫综合征,发作间期及发作前瞬间脑电图改变具有重要的定位诊断意义,睡眠时...  相似文献   

10.
目的 对足月重度窒息新生儿生后6 h内行VEEG监测,比较不同EEG背景异常分级标准与早期神经行为发育结局的相关性。方法 对收集的足月重度窒息新生儿于生后6 h内行床旁VEEG监测,分别按EEG背景异常分级A(临床脑电图学,人民卫生出版社)和B标准[Pediatrics,2006,118(1)]和发作性异常放电标准,对观察对象的VEEG进行判读。于生后3和7 d行VEEG复查,3和6月龄行EEG复查;7~14 d 行新生儿行为神经评估(NBNA)评分、3月龄行全身运动(GMs)质量评估和0~6岁发育筛查测验(DST),6月龄行贝利婴幼儿发展量表(BSID)评估,随访神经行为发育结局。分析不同EEG背景异常分级标准与早期神经行为发育结局的相关性。 结果 48例足月重度窒息新生儿进入分析,其中男26例,女22例。9例VEEG无背景异常;39例有背景异常,单纯背景异常组11例、背景异常伴发作性异常放电组28例。①A、B标准单纯背景异常组,轻度异常各3例,中度异常分别为2例和0,重度异常分别为6例和2例,B标准中不活跃EEG 6例。②A、B标准背景异常伴发作性异常放电组:轻度异常分别为21例和13例,中度异常分别为6例和11例,重度异常分别为1例和3例,B标准中不活跃EEG 1例。③3 d VEEG异常27/43例,7 d VEEG异常8/40例,3月龄EEG异常10/35例,6月龄EEG异常7/10例;④死亡9例;7~14 d NBNA评分异常20/39例;3月龄GMs异常1/35例,DST异常3/35例;6月龄神经行为发育异常患儿4例,BSID和EEG均异常,考虑精神运动发育迟缓或脑性瘫痪。⑤轻度背景异常:按A标准,1/24例6月龄神经行为发育结局预后不良(死亡或神经行为发育异常);按B标准,0/16例神经行为发育结局预后不良;中度背景异常:A标准神经行为发育结局预后不良发生率高于B标准(5/8例 vs 3/11例);重度背景异常:按A标准,7/7例神经行为发育结局预后不良;按B标准(包括不活跃EEG),10/12例神经行为发育结局预后不良;A和B标准对预后不良结局的差异均无统计学意义。结论 轻、重度背景异常EEG与早期神经行为发育预后的相关性较好。背景爆发间隔时间与低电压水平的量化标准,是不同EEG分级标准中度背景异常重度窒息新生儿预后结局不一致的原因之一。EEG背景异常分级A标准较B标准更接近于预后结局。  相似文献   

11.
儿童交替性偏瘫的诊断与治疗   总被引:7,自引:1,他引:7  
为探讨儿童交替性偏瘫的临床特点及治疗方法,对近13年收治的8例患儿的临床资料进行分析。结果表明,其临床特征为18个月前起病,有频繁发作的交替性偏瘫,常伴锥体外系症状及认知功能减退,睡眠可缓解上述症状。应用尼莫地平或氟桂嗪治疗后,发作频率明显降低,发作持续时间明显缩短。提示钙离子拮抗剂对本病治疗有效。  相似文献   

12.
Alternating hemiplegia of childhood (AHC) is a rare neurological disorder which usually presents before 18 months of age and is characterised by recurrent alternating episodes of hemiparesis. A single effective treatment for this condition is yet to be established; flunarizine is currently the most widely used but with varying degrees of success. An 18-month-old child presented with AHC and treatment with a combination of topiramate and flunarizine made a significant difference in controlling the frequency and severity of the attacks. This possibly allowed a better developmental outcome than in most children with this condition. Topiramate combined with flunarizine for treating AHC has much potential for further research.  相似文献   

13.
From 6 months of age on this girl experienced frequent episodes of hemiplegia involving both sides of the body and lasting up to 8 days. The attacks were often precipitated by tonic deviation of the head and/or the eyes to one side and nystagmus. At this stage the girl used to cry. Squinting, tonic stiffening of body and extremities, and dystonic posturing also occurred. Autonomic dysfunctions such as paleness of the skin, sweating, respiratory embarrassment, tachycardia, and mydriasis were associated features of the attacks. Motor and mental development of the girl is delayed. Improvement concerning severity, duration and frequency of the attacks has been achieved by permanent treatment with flunarizine in combination with acetazolamide and acetylsalicylic acid. If the child falls asleep immediately after rectal application of chloral hydrate at the onset of an attack there is no hemiplegia after awakening.  相似文献   

14.
Alternating hemiplegia of childhood (AHC) is rare disorder characterised by recurrent attacks of hemiplegia followed by developmental delay. We investigated the parental perceptions and psychosocial issues of AHC. Using a questionnaire sent to the French AHC association, we investigated families' concerns and needs of support. Additionally, we evaluated the impact of this disease.ResultsWe analysed 47 questionnaires from 30 families. At time of diagnosis, the concern of the parents was highest for the hemiplegic spells and abnormal eye movements. These concerns decreased over time. The highest concern at the time of the study was the outcome of the patients with an emphasis on cognitive consequences and the level of autonomy. The results showed that AHC has a significant impact on families.InterpretationOur data enhance how the explanation of the disease by healthcare professional is important. This study also highlights the need for family support over time.  相似文献   

15.
电视录相脑电监测在小儿癫痫诊断中的应用   总被引:26,自引:0,他引:26  
目的评价电视录相脑电图(Video-EEG)监测在小儿癫痫诊断中的应用价值。方法对203例具有发作性症状的患儿进行连续6小时的包括清醒、睡眠、诱发试验及必要的认知测验的Video-EEG监测。结果经发作期Video-EEG监测证实,60例初诊为癫痫性发作的患儿中,21例(35%)为非癫痫性发作;28例其他症状发作中,24例(86%)为非癫痫性发作。102例痫样放电患儿中82例(80.4%)确定了发作类型,35例(34.3%)确定了癫痫类型。Video-EEG监测可发现短暂轻微的癫痫发作及痫样放电引起的一过性认知损伤的表现。结论Video-EEG在排除非癫痫性发作、确定癫痫性发作的类型、评价脑电-临床关系方面可提供准确可靠的证据,可进一步提高癫痫的临床诊断水平  相似文献   

16.
Alternating hemiplegia in children is a rare form of "complicated" migraine. There are a number of similarities to seizure disorders and correct diagnosis may prove difficult. The clinical features of 6 patients with alternating hemiplegia are presented together with the results of electrophysiological, radiological, and biochemical studies. While there were a number of clinical similarities between the patients, extensive investigations failed to demonstrate significant abnormalities. Although a diagnosis of a seizure disorder was suggested at some time in all of the patients, in only 2 was it certain there was a fit. Headaches occurred in the eldest patient (although not always with a hemiplegic attach) while in the younger patients misery often accompanied their attacks. Intellectual status was impaired in 5 patients, although in 2 of these the cause was most likely to be perinatal difficulties. Response to various forms of treatment was generally not encouraging and concern is expressed that this alternating hemiplegia of childhood may carry an unfavourable prognosis.  相似文献   

17.
Alternating hemiplegia of childhood (AHC) is a rare disorder with diagnosis based on clinical criteria, as no laboratory, neuroradiological or genetic markers are currently available. The pathogenic mechanisms are still an enigma. Some hypotheses have been proposed such as hemiplegic migraine variant, epileptic mechanism, channelopathy and mitochondrial disorder, but none of these has been confirmed. Our aim was to analyze the results of metabolic studies performed on a series of 157 European patients who fulfilled diagnostic criteria for AHC. We tried to find a common metabolic abnormality, related with AHC. We did not find significant abnormalities in basic metabolic screening, at different ages. Neurotransmitters in cerebrospinal fluid (n = 26) were normal in all of the patients. Mitochondrial respiratory chain enzyme activities were analyzed in 19 muscle biopsies; in 4 cases, different MRC enzyme deficiencies were demonstrated, ranging from mild-unspecific deficiencies to more profound and probably primary defects. Although we did not find specific metabolic markers in our series, some metabolic disorders such as pyruvate dehydrogenase deficiency, MELAS, cerebral glucose transporter defect and neurotransmitter deficiency can exhibit symptoms similar to those of AHC and need to be ruled out before a diagnosis of AHC can be established. Further studies including high-throughput diagnostic technologies seem necessary to elucidate the etiology of this severe and enigmatic disorder.  相似文献   

18.
??Children partial epilepsy manifesting hypermotor seizures?? analysis of 7 cases and literatures review.????CHEN Qian??ZHANG Gui-zhen??JIANG Li-li??WANG Yang??ZHONG Di-xiao??XU Ke-ming.Capital Institute of Pediatrics??Beijing 100020??China
Absract??Objective??To approach the clinical characteristics of childhood partial epilepsy presenting HMS. Methods ??From Jun. 2003 to Jua. 2009 in Capital Institute of Pediatrics??Video-EEG was performed on 7 children who met the H. Lüders semiology diagnosis criteria??analyzed the clinical episode by reviewing the videotapes??observe the ictal and interictal EEG manifestations and follow up the effect on antiepileptic drugs. Results??Totally 29 attacks were recorded in 7 cases by Video-EEG monitor. The seizures lasted from 10 to 84 seconds?? 22 of which occurred during sleep and 7 during awakeness.HMS consisted of mild or marked agitation and HM behavior including claping??waving arms??boxing??tapping??scratching??kicking or horizontal movements of trunk and pelvis while lying on the bed.The non-HM signs included eyes and head??neck??trunk and limbs deviation??dystonic posturing??flushing and fear or angry expression on the face. Lateral or bilateral sharp or spike waves at frontalpole and frontal leads were found in all cases except one in the interictal EEG??while ictal EEG demonstrated frontalpole or frontal onset rhythmic low amplitude fast activity at lateral or bilateral leads in all the cases ??immediately covered by motor artefacts and recovered by primary background activity after the episode. Conclusion??HMS??as a manifestation of partial epilepsy presents marked agitation and HM behavior characteristics that may accompany with dystonic posturing and expression??ictal and interictal EEG demonstrates lateral or bilateral epileptic waves at frontalpole or frontal leads. Seizures can be controlled satisfactorily by carbamazepine or oxcarbazepine.  相似文献   

19.
Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder characterized by early-onset recurrent distinctive hemiplegic episodes commonly accompanied by other paroxysmal features and developmental impairment. De novo mutations in ATP1A3 were recently identified as a genetic cause of AHC. To describe the entire Danish cohort of paediatric AHC patients we approached neuropaediatricians nationwide. All currently acknowledged Danish patients ≤16 years with AHC were genetically tested and seen by the same child neurologist (PU). Ten patients; seven girls and three boys were identified. Mean present age was 10.0 years (range 1–16). Mean age at presentation was 7.4 months (range 1–18 months). Sequencing of ATP1A3 in all ten patients revealed a pathogenic mutation in seven. Two females with moderate psychomotor impairment were heterozygous for the known p.G947R mutation, whereas one severely retarded boy was heterozygous for the common p.E815K mutation. The prevalent p.D801N mutation was identified in two moderate to severely retarded children. Interestingly, in a set of monochorionic male twins a novel p.D801E mutation was identified, underscoring that the asparagine at position 801 is a mutation hotspot. Three girls aged 5–13 years did not reveal any ATP1A3 mutations. They were rather mildly clinically affected and displayed a normal or near-normal psychomotor development. This is the first study of AHC in the Danish paediatric population. The patients harboured a wide range of psychomotor difficulties. Patients with no mutation detected tended to be less severely affected. Prevalence was approximately 1 per 100,000 children.  相似文献   

20.
Familial hemiplegic migraine is a distinctive form of migraine with autosomal dominant inheritance. The patients undergo attacks of migraine complicated by hemiplegia. Seizures have not been reported as comprising a part of this syndrome. We describe three generations of a family with hemiplegic migraine and focal seizures occurring concurrently with the migrainous attacks. There were five affected family members whose clinical features included unilateral headache and transient hemiplegia. Two family members also had focal seizures during the migrainous attacks. One of the patients was treated with carbamazepine with good results. The only associated neurological finding was ataxia which was found in the oldest patient. The presence of focal seizures during an episode of hemiplegic migraine suggests that the two phenomena of migraine and focal seizures may share the same underlying pathophysiology.  相似文献   

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