不同发作类型癫痫患儿血清神经元特异性烯醇化酶水平研究

目的探讨不同发作类型癫癎患儿血清神经元特异性烯醇化酶水平变化与脑损害之间的关系。方法按照1981年国际抗癫癎联盟制定的癫癎发作类型分类标准,共明确诊断190例癫癎患儿（强直-阵挛发作41例、强直性发作34例、阵挛性发作22例、肌阵挛发作12例、无张力性发作17例、失神发作22例、单纯部分性发作21例及复杂部分性发作21例）,于癫癎发作72 h内施行长程视频脑电图观察和血清神经元特异性烯醇化酶检测。结果不同发作类型癫癎患儿血清神经元特异性烯醇化酶水平均高于正常对照组（P=0.000）,其中以肌阵挛发作组[（32.42±6.62）ng/ml]水平最高,除与强直-阵挛发作组（P=0.062）外,与其他各发作类型之间差异均有统计学意义（P=0.000）;而其他各类型之间差异无统计学意义（均P>0.05）。秩相关分析显示,癫癎患儿血清神经元特异性烯醇化酶水平与长程视频脑电图异常程度呈正相关（r₁=0.613,P=0.000）。结论癫癎发作后血清神经元特异性烯醇化酶水平即升高,提示癫癎发作对患儿脑组织有一定损害;而且癫癎放电对神经元损害越严重、血清神经元特异性烯醇化酶水平升高越明显,不同发作类型中以肌阵挛发作、强直-阵挛发作患儿血清神经元特异性烯醇化酶水平最高,提示这两种发作类型对脑组织的损害高于其他类型。     

血清神经元特异性烯醇化酶在癫癎患者中的应用价值

目的 探讨癫痫患者发作后不同时间神经元特异性烯醇化酶（NSE）的动态变化。方法 采用放射免疫法测定20例癫痫患者发作后48h内、2-4d、5-7d血清中NSE水平，并与22例正常健康体检者进行对照。结果 癫痫患者发作48h内及2～4d血清NSE水平与对照组比较有显著性差异（t=4．31，2．57；P〈0．01，0．05）。结论 癫痫发作后血清NSE水平升高可能与脑神经元损害有关。     

癫痫持续状态患者血清神经元特异性烯醇化酶的变化

目的 研究癫痫强直一阵挛持续状态和复杂部分持续状态患者血清神经元特异性烯醇化酶(NSE)水平变化。方法 运用酶联免疫双抗法测定癫痫持续状态患者(包括强直一阵挛持续状态14例和复杂部分发作持续状态10例)发作后不同时段血清中NSE水平，并与健康对照组及癫痫对照组比较。结果 发作后2d两组癫痫持续状态患者血清NSE水平均升高，发作后3dNSE水平开始降低，发作后7d强直一阵挛组NSE恢复正常，而复杂部分发作组NSE水平仍高于对照组。结论 癫痫持续状态，尤其是复杂部分发作持续状态可造成脑神经元损伤，需紧急处理。     

神经元特异性烯醇化酶与急性颅脑创伤患者预后关系研究

目的探讨急性颅脑创伤患者血清和脑脊液神经元特异性烯醇化酶表达变化与病情严重程度和预后关系。方法共89例急性颅脑创伤患者根据入院时Glasgow昏迷量表(GCS)评分分为轻型、中型、重型和特重型颅脑创伤组,于伤后12 h内分别检测血清(89例)和脑脊液(18例)神经元特异性烯醇化酶表达水平,Spearman秩相关分析评价其与颅脑创伤程度和预后的相关性。结果与对照组相比,颅脑创伤各组患者血清神经元特异性烯醇化酶表达水平升高(均P0.05),且特重型组和重型组高于中型组和轻型组(均P0.05)。脑挫裂伤患者血清神经元特异性烯醇化酶表达水平高于弥漫性轴索损伤(P=0.025)、硬膜下血肿(P=0.031)和硬膜外血肿患者(P=0.021)。血清神经元特异性烯醇化酶表达水平与GCS评分(rs=-0.327,P=0.024)和Glasgow预后分级评分(rs=-0.252,P=0.049)均呈负相关关系。特重型和重型颅脑创伤患者脑脊液神经元特异性烯醇化酶表达水平均高于血清(P=0.039,0.031)。结论神经元特异性烯醇化酶表达变化可以作为辅助评价急性颅脑创伤程度、分型诊断和判断预后的实验室指标,且脑脊液神经元特异性烯醇化酶水平较血清更敏感。     

癫痫发作与假性发作患者脑脊液神经元特异性烯醇化酶含量变化

采用放免分析法分析癫痫发作和假性发作患者发病后24小时内脑脊液神经元特异性烯醇化酶（NSE）含量变化。结果：癫痫发作组15例脑脊液NSE含量为27．63±6．39（μg／L）,假性发作组11例脑脊液NSE为9．85±1．43,正常对用组16例NSE为10．18±1．42;癫痫发作组与正常对照组和假性发作组比较均呈显著差异（P＜0．01）,正常对照组与假性发作组比较无显著差异（P＞0．05）。结论：癫痫发作后有一定程度的脑神经元损害;脑脊液NSE检查对癫痫发作与假性发作有鉴别价值。     

癫痫患者血清和脑脊液神经元特异性烯醇化酶的测定

目的 探讨癫痫发作对脑神经元的损伤。方法 应用酶联免疫反应法动态测定癫痫发作后患者血清和脑脊液（CSF）中神经元特异性烯醇化酶（NSE）的含量。结果 癫痫组血清和CSF中NSE含量在发作后明显升高，血清NSE水平在发作后第1天最高，1周左右开始下降，2周左右降至正常；抽搐发作及频繁发作时，血清和CSF中NSE升高更明显。结论 癫痫发作引起血清和CSF中NSE水平的升高；癫痫发作导致神经元损伤，抽搐发作及频繁发作时神经元损伤更严重。     

癫痫病人血清中NSE浓度的变化(摘要)

神经元特异性烯醇化酶（ＮｅｕｒｏｎＳｐｅｃｉｆｉｃＥｎｏｌａｓｅ，ＮＳＥ）是反映脑损害的一种灵敏的、有价值的生化学指标。本研究采用酶联免疫法测定癫痫病人血清中ＮＳＥ的浓度，探讨癫痫发作过程中ＮＳＥ的变化。材料和方法：选择有明确癫痫发作的病人２２例，...     

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.     

癫痫患者血清、脑脊液神经元特异性烯醇化酶的测定及意义

目的探讨癫痫患者疴性发作后对神经元和血脑屏障的损伤。方法采用酶联免疫法测定癫痫患者在痢性发作后2d内血清和脑脊液（CSF）中神经元特异性烯醇化酶（NSE）的含量，与非神经系统疾病的神经症对照组对比分析。结果患者组CSF中NSE较对照组升高，差异有统计学意义；但血清中NSE含量与对照组差异无统计学意义。结论癫痫患者癫痫发作后脑脊液中NSE升高，提示疴性发作对中枢神经的神经元有损伤；而血中NSE正常，提示血脑屏障正常。     

全面性强直-阵挛发作间期脑血流量改变的磁共振动脉自旋标记研究

目的应用MRI脉冲式动脉自旋标记（PASL）技术,研究全面性强直．阵挛发作患者发作间期局部脑血流量改变,阐述全面性强直一阵挛发作可能的神经病理生理学机制。方法选择29例诊断明确、病程〉1年且发作〉3次的全面性强直一阵挛发作患者作为研究对象,以年龄、性别、利手性相匹配并例数相当的正常健康志愿者作为对照。通过siemens3．0TMRI扫描仪采集全脑PASL数据,通过两独立样本t检验比较全面性强直．阵挛发作患者发作间期相对正常人脑血流量改变的脑区。结果与对照组相比,全面性强直一阵孪发作患者发作间期脑血流量的改变以降低为主（P〈0．05）,主要包括双侧丘脑、脑干和小脑,以及右侧楔前叶部分皮质区域;而且发作间期双侧丘脑局部脑血流量改变与发作时间（r=-0．090,P=0．643）及发作频率（r=-0．115,P=0．551）无明显相关关系。结论全面性强直-阵挛发作患者在发作间期以丘脑、脑干和小脑等脑区血流灌注降低为主,支持特发性全面性癫癎的“中脑癫癎理论”。这些脑区可能与特发性全面性癫癎的病理生理学机制密切相关。     

Use of topiramate in childhood generalized seizure disorders

Topiramate is a sulfamate derivative of the naturally occurring monosaccharide D-fructose. It was initially approved in the United States as adjunctive therapy for partial seizures in 1997. However, there is increasing evidence that it is effective in the treatment of generalized seizures and epilepsy syndromes. Initially, open-label studies using topiramate as add-on therapy in children with refractory generalized seizure types were performed. These showed improvement in patients with the following generalized seizure types: typical and atypical absence, atonic, myoclonic, generalized tonic-clonic, and juvenile myoclonic epilepsy. Double-blind, placebo-controlled multicentered studies in patients with refractory primary generalized tonic-clonic seizures and epilepsy syndromes were performed. The median reduction in seizure frequency for primary generalized tonic-clonic seizures was 56.7% for topiramate and 9% for placebo. Additionally, 13.6% of topiramate-treated patients were primary generalized tonic-clonic seizure free for the study period. In the topiramate-treated juvenile myoclonic epilepsy patients, primary generalized tonic-clonic seizures were reduced > 50% in 73% of patients. Open-label extension showed that primary generalized tonic-clonic seizures were reduced >50% in 63% of topiramate-treated patients for > or = 6 months, and 16% were primary generalized tonic-clonic seizure free > or = 6 months. Accumulating evidence suggests that topiramate has a broad spectrum of antiepileptic effect. Moreover, life-threatening organ toxicity has not been attributed to topiramate. Topiramate is an effective treatment for refractory generalized seizure types and epilepsy syndromes encountered in children.     

Epilepsy With Myoclonic Atonic Seizures: An Electroclinical Study of 69 Patients

Epilepsy with myoclonic-atonic seizures is characterized by myoclonic-atonic, absence, tonic-clonic, and eventually tonic seizures, appearing in previously normal children at ages 18-60 months. We analyzed the electroclinical features, treatment, and outcome of 69 patients with myoclonic-atonic seizures; these patients were followed between 1990 and 2012 at the Juan P. Garrahan Pediatric Hospital, Buenos Aires, Argentina. No structural or metabolic etiology was identified. Based on the electroclinical features and evolution, two groups could be distinguished. The first group of 39 patients with myoclonic and myoclonic-atonic seizures with or without generalized tonic-clonic seizures and absences associated with generalized spike- and polyspike-and-wave paroxysms had excellent prognoses. The second group of 30 patients had myoclonic jerks and myoclonic-atonic seizures associated with other seizure types including tonic seizures; some had myoclonic status epilepticus and cognitive deterioration. The interictal EEG showed frequent generalized spike- and polyspike-and-wave paroxysms. In 16 patients, the seizures remitted within 3.6 years. The two groups were distinguished in retrospect, when enough time had elapsed to evaluate cognitive deterioration and different seizure types. In conclusion, epilepsy with myoclonic atonic seizures is an epileptic syndrome with a broad clinical spectrum and variable prognosis.     

Normal CSF neuron-specific enolase and S-100 protein levels in patients with recent non-complicated tonic-clonic seizures

PURPOSE: Increased concentrations of the nervous-system-specific proteins neuron-specific enolase (NSE) and S-100 protein (S-100) have been measured with lesions in the CNS. Elevated levels of serum NSE (s-NSE) have been found in status epilepticus, but also after single epileptic seizures. Because larger studies addressing cerebrospinal fluid (CSF) levels of NSE or S-100 have not been performed, we measured CSF NSE and S-100 after tonic-clonic seizures to search for evidence of neuronal and glial damage. METHODS: 22 consecutive patients with single, previously undiagnosed and untreated tonic-clonic seizures were studied. Serum and CSF samples were collected within 24 h after seizure. 18 serum and CSF samples were measured from a control group. RESULTS: The mean CSF NSE was 8.9 ng/ml (range 0-28 ng/ml) and s-NSE 8.2 ng/ml (range 5-15 ng/ml) in the patient group. The mean concentrations in the control group were 13.1 ng/ml (range 3-24 ng/ml) and 8.0 ng/ml (range 5-12 ng/ml) respectively. The mean CSF S-100 was 3.17 microg/l (range 1.45-7.02 microg/l) and serum S-100 0.05 microg/l (range 0-0.32 microg/l), and in controls 3.19 microg/l (range 1.52-5.13 microg/l) and 0.08 microg/l (range 0-0.28 microg/l). CONCLUSION: There were no significant differences between the mean concentrations of NSE or S-100 in CSF and serum between the epileptic group and controls. These results do not confirm the previous observation of elevated NSE-levels after tonic-clonic seizures, which argues against neuronal or glial damage after uncomplicated tonic-clonic seizures in unmedicated patients.     

Characteristics of Seizures in a Population-Based Series of Mentally Retarded Children with Active Epilepsy

Summary: Purpose: The characteristics of seizures were analysed in a population-based study of active epilepsy in 6-to 13-year-old mentally retarded children. Methods: The search procedure included diagnostic registers, EEG registers, and registers of the Education of the Subnormal. Medical files were scrutinized, and clinical examinations and interviews with parents or caretakers or both were performed. Results: The median age of seizure onset was 1·3 years, 3·1 for children with mild retardation and 0·8 for children with severe retardation. Among the 98 children identified, current seizure groups were partial in 20, generalized in 59, and mixed in 19. The prevailing seizure types were tonic-clonic, myoclonic, atypical absences, and partial complex seizures, present in 42, 33, 23, and 23 children, respectively. A total of 46 children had more than one seizure type. Seizures every day/week occurred in 44 children. There was a constancy between seizure type at onset and later seizure type. Neonatal seizures (n = 25), infantile spasms (n = 12), and status epilepticus (n = 37) occurred independent of one another. Prognostic factors for poor neurologic outcome were early onset of epilepsy, infantile spasms as onset type, and prior neonatal seizures. Children with only partial seizures less frequently had severe mental retardation, cerebral palsy, and visual impairment than those with only generalized seizures. Conclusions: Epilepsies in children with mental retardation are characterized by severe seizure manifestations. The brain damage giving rise to mental retardation and epilepsy is probably the main factor in terms of seizure outcome.     

Factors Influencing Effectiveness of Thyrotropin-Releasing Hormone Therapy for Severe Epilepsy in Childhood: Significance of Serum Prolactin Levels

Various factors possibly influencing responsiveness to thyrotropin-releasing hormone (TRH) therapy were studied in 38 children (20 M, 18 F) with severe epilepsy. Mean age at treatment was 4.7 years (range; 0-18 years). Seizure type was infantile spasms (IS) in 16, generalized tonic seizures in 8, secondarily generalized partial seizures in 4, generalized tonic-clonic seizures in 2, atypical absence in 5, myoclonic seizures in 1, and atonic seizures in 2 cases. All seizure types were classified by ictal EEGs documented by simultaneous EEG-VTR according to the International Classification of seizures, except for two with atonic seizures and one with IS. Factors analyzed were sex, age, etiology, neurologic abnormality, seizure types, seizure frequency, EEGs, duration of TRH therapy, and serum hormone [human growth hormone (HGH), prolactin (PRL), thyroid-stimulating hormone (TSH)] levels before and after TRH therapy. We showed that: (a) serum PRL level was significantly correlated to effectiveness of TRH therapy (the higher the PRL, the greater the response rate); (b) serum basal PRL decreased significantly, especially in good responders; and (c) serum basal PRL was elevated especially in patients with IS, which responded more to TRH therapy. These interesting findings seen in severe epilepsy of childhood deserve further neuroendocrinologic study.     

Levetiracetam in the treatment of childhood epilepsy

Epilepsy is a common pediatric neurologic disorder that is difficult to manage in a substantial portion of children. Levetiracetam (LEV) is a novel antiepileptic drug (AED) that has recently been approved as add-on treatment for various seizure types in epilepsy populations that include children: for refractory partial seizures in epilepsy patients ≥4 years old, for myoclonic seizures in juvenile myoclonic epilepsy patients ≥12 years old, and for primary generalized tonic-clonic seizures in idiopathic generalized epilepsy patients (≥6 years old with FDA approval; ≥12 years old with EMEA approval). A review of published pediatric studies indicates that the efficacy of LEV is best established for partial seizures; however, results from recent double-blind and open-label trials indicate that adjunctive LEV also controls generalized seizures – particularly myoclonic and generalized tonic-clonic – in children and adolescents with primary generalized epilepsy. LEV was well-tolerated in pediatric studies. The most common adverse events (AEs) reported were sedation related. Behavioral AEs were among the most commonly reported events in some trials; conversely, improvements in behavior and cognition were also frequently reported. LEV appears to be a safe and effective AED with unique characteristics that benefit the treatment of children with epilepsy.     

癫痫患者神经元特异性烯醇化酶和胰岛素样 生长因子1的变化及临床意义

目的观察癫痫发作3 d内患者血清神经元特异性烯醇化酶(NSE)和胰岛素样生长因子1(IGF-1)浓度的变化及其临床意义。方法选取63例特发性癫痫患者作为病例组,以37例年龄及性别相匹配的体检健康者作对照组。采用ECLIA、ELISA测定血清NSE和IGF-1的浓度。结果病例组血清NSE和IGF-1浓度与对照组比较明显升高,差异有统计学意义(P<0.05)。血清NSE和IGF-1ROC曲线下面积分别为0.767和0.663。癫痫患者血清NSE和IGF-1浓度之间存在相关性(r=0.379,P<0.01)。结论血清NSE、IGF-1浓度在痫性发作后3 d内升高,提示其可作为判断痫性发作后早期脑损伤及机体早期启动神经保护的生化指标,具一定临床应用价值。癫痫患者血清NSE和IGF-1浓度之间存在相关性,提示它们可能共同参与了癫痫的发病过程。     

Epilepsy in severely handicapped children

Clinical and electroencephalographic studies were performed to elucidate the characteristics of epilepsy in severely handicapped children. The subjects were 56 severely mentally and physically handicapped children whose ictal seizures were documented by simultaneous EEG-VTR monitoring. Seizure types were infantile spasms in 17 (30.4%), atypical absence in 5 (8.9%), myoclonic seizures in 3 (5.4%), generalized tonic-clonic seizures in 2 (3.6%), secondary generalized partial seizures in 11 (19.6%), and undetermined in 4 (7.1%). Epilepsy types were also classified by the ictal seizure types and clinical courses: West syndrome in 27 (48.1%), Lennox-Gastaut syndrome (LGS) (at onset) in 5 (8.9%), partial epilepsy in 13 (23.2%) and others (at onset) in 11 (19.8%). Among 29 cases with West syndrome, 22 (81%) developed LGS, and among 11 cases with others group, 64% developed LGS. After all, LGS appeared in 60.7% of all 56 severe epileptic children associated with severe physical and mental handicaps.     

Amantadine hydrochloride for refractory generalized epilepsy in adults

Amantadine hydrochloride has been shown in several open studies to benefit children with refractory generalized epilepsy. We used amantadine as adjunctive therapy in 10 adolescents and adults with generalized tonic-clonic, myoclonic, or absence seizures refractory to therapeutic levels of valproate, carbamazepine, phenytoin, and benzodiazepines. Seven patients were men and 3 were women aged 18-29 years, and 8 of 10 patients were mentally retarded. All patients had generalized epileptiform paroxysms on EEG, with generalized or absence seizure recorded in 9. Five patients had both absence and tonic-clonic seizures, and 2 had all three seizure types. Amantadine was added to the existing regimens in weekly increments to 400 mg/day. Two patients had greater than 90 per cent seizure reduction, both with vomiting and somnolence. Two patients had seizure reduction between 50 and 90 per cent, 1 with anorexia and sleepiness. Three patients had no change in seizures, and 3 had worse tonic-clonic seizures. Amantadine may have some antiepileptic efficacy of unknown mechanism, but it may worsen generalized tonic-clonic seizures and is likely to be of limited value in adults.     

学龄期癫癎患儿认知功能状况与相关因素分析

目的探讨学龄期癫癎患儿的认知功能及其相关因素的关系。方法调查新近确诊的38例发作控制在75%以上且时间超过一年的学龄期癫癎患儿的临床资料,运用韦氏儿童智力量表测定所有癫癎患儿治疗前后的认知功能,同30例正常儿童进行对照,并进行统计学分析。结果癫癎患儿的智商较正常对照组明显下降(P<0.01);癫癎患儿治疗后总智商与病程、发作频率及每次发作时间呈正相关(γ=0.523,P=0.013;γ=0.432,P=0.043;γ=0.487,P=0.048),与发病年龄呈负相关(γ=-0.452,P=0.046);癫癎患儿单药治疗控制发作1年后平均智商从81.97提高到90.93,具有统计学意义(P<0.05),二药治疗平均智商从85.89提高到88.78,无统计学意义(P>0.05)。结论癫癎患儿智能存在不同程度的缺陷,与发病年龄、病程、发作频率、发作持续时间有关,药物控制癫癎发作对患儿认知功能有益。