磁共振氢谱在婴儿痉挛症中的应用

婴儿痉挛症(infantile spasms,IS)是婴儿时期特有的难治性癫(癎)综合征,依病因不同分为症状性、隐源性和特发性[1],其确切的发病机制不清.     

婴儿痉挛症的研究进展

婴儿痉挛症(infantile spasms,IS)又名West综合征,是一种严重的、与年龄相关的隐源性或症状性、全身性癫痫综合征。以典型的痉挛发作、脑电图表现为高度失律以及病后智力发育倒退或停滞为特点。发病原因复杂多样,发病机制尚不完全明确。治疗上临床上目前主要以药物治疗为主,近年来,外科治疗以及生酮饮食疗法为该病提供了新的治疗策略,根据脑电图的情况可判断预后。现就婴儿痉挛症的病因、发病机制、治疗及疾病预后进行综述。     

婴儿痉挛症31例

婴儿痉挛(Infantilc spasm's,IS)是婴儿期常见的以癫(癎)发作为主要特征的综合征,其病因复杂,具有典型的惊厥方式,脑电图改变和精神运动发育障碍,预后不良,早期诊断及时治疗可以改善其精神运动发育,减少后遗病[1].我院自2000-02～2007-06共收治婴儿痉挛症31例,现报告如下.     

婴儿痉挛症临床及CT分析(附16例报告)

婴儿痉挛症又称Ｗｅｓｔ综合征 ,是以癫痫发作、明显的智能障碍、发育迟滞、弥漫高电位慢波活动兼有尖、棘波发放等为主要特征 ,好发于 4～ 12月婴儿 ,我院小儿神经组近 5年来诊治 16例婴儿痉挛症患儿 ,并分析其临床及ＣＴ表现 ,现报告如下 :1　临床资料16例中 ,男 10例 ,女 6例 ,年龄 2月～ 11月 ,就诊时间在病后 3天～ 3个月 ,其中早产 5例 ,过期产 3例。有缺氧缺血性脑病史 8例 ,颅内出血病史 3例 ,1例曾患化脓性脑膜炎 ,4例无特殊病史。神经系统症状 :点头、肢体向躯干屈曲的肌阵挛发作或全身抽搐发作等 ,其中 9例智力发育落后于正常儿…     

Vigabatrin在婴儿期癲痫综合征(EPS)治疗中的作用

作者对不同类型的婴儿及儿童EP(癫痫epilepsie EP)及EPS(癫痫综合征epilepsy syndrome EPS)患者用Vigabatrin治疗后的疗效进行分析评价。 1.部分性发作:文献资料认为Vigabatrin对部分性发作的显效率约50％～80％,治疗后发作次数可减少50％以上。作者随机治疗43例儿童EP患者42％为此类发作,其中60％患者发作减少50％以上。 2.West综合征:Chiron等报道了一组难治性症状性婴儿痉挛症患者70例,年龄由2个月到13岁,其发病都在1岁前,66例在治疗前曾用过其它抗癫痫药,68例发育迟缓,37例为原发性EP,33     

伴腺垂体功能减退症的空泡蝶鞍综合征1例并文献复习

空泡蝶鞍综合征(empty sella syndrome,ESS)是指蛛网膜下腔疝入蝶鞍,致使垂体受压而出现的一系列临床症状,可表现为头痛、视力损害、内分泌异常、肥胖等症状,约20％ ～50％患者伴有内分泌异常,出现部分性或全垂体功能减退,甚至发生垂体危象[1];10％患者出现高催乳素血症[2].本文报道一例伴腺垂体功能减退症及高催乳素血症的空泡蝶鞍综合征,临床出现幻觉及痛性痉挛等少见表现.     

West综合征的遗传学病因与相关治疗进展

West 综合征(West syndrome,WS)是一种年龄依赖性癫痫综合征,发生率为 2/10000～5/10000存活婴儿,男性患病率略高,多为3 个月至2 岁起病,90％起病于婴儿,故又被称为婴儿痉挛症(infantile spasms),其病因复杂,发病机制并不清楚,据统计有200多个致病因素与其相关[1]....     

硫酸镁联合促肾上腺皮质激素治疗婴儿痉挛症开放性临床研究

研究背景婴儿痉挛症是一种以痉挛发作、脑电图高度失律和精神运动发育迟滞为特征的难治性癫癇,抗癫癇药物治疗效果欠佳。促肾上腺皮质激素作为一线治疗药物存在感染和高血压等不良反应,本研究旨在通过开放性临床试验评价硫酸镁联合促肾上腺皮质激素治疗婴儿痉挛症的疗效和耐受性。方法共计55例婴儿痉挛症患儿接受统一标准的硫酸镁联合促肾上腺皮质激素治疗,比较治疗前后痉挛发作频率和脑电图改变,治疗过程中通过监测患儿生命体征、实验室指标和药物不良事件评价药物耐受性。结果治疗2周后痉挛发作控制有效率为78.18%（43/55）、脑电图改善率为55.77%（29/52）,其中无发作25例（45.45%）、脑电图恢复正常6例（11.54%）。不同发病年龄[≤4个月和〉4个月（χ2=0.595,P=0.441）]、病程[≤2个月和〉2个月（Fisher确切概率法：P=0.735）]和病因学[特发性或隐源性和症状性婴儿痉挛症（Fisher确切概率法：P=1.000）]对痉挛发作控制有效率,以及不同发病年龄（χ2=1.325,P=0.250）、病程（χ2=2.668,P=0.102）和病因学（χ2=2.215,P=0.145）对脑电图改善率之差异均无统计学意义;治疗期间无一例患儿发生高血压等不良事件。29例患儿经长期随访（治疗后1、3和12个月）无痉挛发作患儿比例基本维持不变（χ2=0.945,P=0.815）。结论硫酸镁联合促肾上腺皮质激素方案治疗婴儿痉挛症疗效肯定且耐受性良好。     

CASK相关婴儿痉挛症1例报告并文献复习

目的 提高对编码钙/钙调蛋白依赖性丝氨酸蛋白激酶(CASK)相关癫痫性痉挛及相关综合征的认识.方法 对确诊为CASK突变伴有婴儿痉挛症(IS)的1例患儿的临床资料进行总结并进行相关文献复习.结果 ①男患,出生后22d出现顽固性便秘、腹胀,发育落后及惊厥发作.体格检查发现小头畸形、腹胀及肌张力低下.影像学检查提示先天性巨...     

婴儿痉挛症的脑电图及脑地形图分析

婴儿痉挛症是新生儿,婴儿的一种较常见的癲痫。发病早,形式特殊,多伴有发育迟缓或智力低下,因发病短促,症状特异,经常不能及时确诊及治疗,我们将近年内观察的21例婴儿痉挛症脑电图(EEG)及脑地形图(BEAM)的结果分析如下。 1 临床资料与方法 1.1 一般资料 本组患儿21例,男13例,女8例,最小年龄2个月,最大年龄24个月,2～6个月者5例占23.8％,7个月～12个月者14例占66.7％,13个月～24个月者2例占9.5％,平均年龄为9个月。一岁     

Epilepsy and anomalies of neuronal migration: MRI and clinical aspects

Neuronal migration disorders are the result of disturbed brain development. In such disorders, neurons are abnormally located. In diagnosing these conditions, magnetic resonance imaging is superior to any other imaging technique. This enables us to improve our knowledge of the clinical correlates of neuronal migration. With reference to migrational disorder, a retrospective study of all 303 patients with epileptic seizures referred for magnetic resonance imaging during a 3-year period was performed, 13 patients (aged 12-41, mean age 27) were identified. They represent 4.3% of the entire study group. Of the patients with known epilepsy, 6.7% and of the mentally retarded, 13.7% had migrational disorders. Four patients had schizencephaly as the dominant finding, one was classified as hemimegalencephaly, 2 had isolated heterotopias, and 6 had localized pachy- and/or poly-microgyria. The clinical pictures are complex. Ectopias of grey matter are recognised foci of epilepsy, but from an epileptological and a clinical viewpoint little attention has been given to these disorders. The present study shows that malmigration is not rare in epilepsy patients, especially not in the mentally retarded.     

Classification of methods in transcranial Electrical Stimulation (tES) and evolving strategy from historical approaches to contemporary innovations

Transcranial Electrical Stimulation (tES) encompasses all methods of non-invasive current application to the brain used in research and clinical practice. We present the first comprehensive and technical review, explaining the evolution of tES in both terminology and dosage over the past 100 years of research to present day. Current transcranial Pulsed Current Stimulation (tPCS) approaches such as Cranial Electrotherapy Stimulation (CES) descended from Electrosleep (ES) through Cranial Electro-stimulation Therapy (CET), Transcerebral Electrotherapy (TCET), and NeuroElectric Therapy (NET) while others like Transcutaneous Cranial Electrical Stimulation (TCES) descended from Electroanesthesia (EA) through Limoge, and Interferential Stimulation. Prior to a contemporary resurgence in interest, variations of transcranial Direct Current Stimulation were explored intermittently, including Polarizing current, Galvanic Vestibular Stimulation (GVS), and Transcranial Micropolarization. The development of these approaches alongside Electroconvulsive Therapy (ECT) and pharmacological developments are considered. Both the roots and unique features of contemporary approaches such as transcranial Alternating Current Stimulation (tACS) and transcranial Random Noise Stimulation (tRNS) are discussed. Trends and incremental developments in electrode montage and waveform spanning decades are presented leading to the present day. Commercial devices, seminal conferences, and regulatory decisions are noted. We conclude with six rules on how increasing medical and technological sophistication may now be leveraged for broader success and adoption of tES.     

Hepatic Considerations in the Use of Antiepileptic Drugs

Summary: Virtually all of the major antiepileptic drugs (AEDs) can cause hepatotoxicity, although fatal hepatic reactions are rare. The mechanisms, incidences, and risk profiles for such reactions differ from drug to drug. With carbamazepine and phenytoin, hepatotoxicity may be due to drug hypersensitivity. Although the profiles of patients at risk have not been well-defined for these two antiepileptic drugs, it would appear from reports in the literature that older adolescents and adults are at higher risk than children of developing serious or fatal hepatotoxicity. Once hepatotoxicity develops, mortality rates are 10–38% with phenytoin and 25% for carbamazepine. The risk profile for valproate fatal hepatotoxicity has been more clearly defined. Those at primary risk of fatal hepatic dysfunction are children under the age of 2 years who are receiving multiple anticonvulsants and also have significant medical problems in addition to severe epilepsy. The risk is considerably lower for patients over the age of 2 years on valproate monotherapy. In contrast to the risk profile with other AEDs, adults receiving valproate as monotherapy have the lowest risk of hepatotoxicity. Fatal hepatic dysfunction coincident with valproate may be the result of aberrant drug metabolism. Concomitant use of AEDs that induce microsomal P450 enzymes (e.g., phenytoin and phenobarbital) may enhance the production of a toxic metabolite, and hence the greater risk of hepatotoxicity with polypharmacy.     

Vascular Malformations and Epilepsy: Clinical Considerations and Basic Mechanisms

Summary: Vascular malformations (VMs) are associated with epilepsy. The natural history of the various VMs, clinical presentation, and tendency to provoke epilepsy determine treatment strategies. Investigations have probed the mechanisms of epileptogenesis associated with these lesions. Electrophysiologic changes are associated with epileptogenic cortex adjacent to VMs. Putative pathophysiologic mechanisms of epileptogenesis include neuronal cell loss, glial proliferation and abnormal glial physiology, altered neurotransmitter levels, free radical formation, and aberrant second messenger physiology.     

Neonatal Seizures: Problems in Diagnosis and Classification

Summary: The clinical identification of neonatal seizures is critical for the recognition of brain dysfunction; however, diagnosis is often difficult because of the poorly organized and varied nature of these behaviors. Current classification systems are limited in their ability to communicate motor, autonomic, and electroencephalo-graphic features of seizures precisely and to provide a basis for uniform effective diagnosis, therapy, and determination of prognosis. Recent investigations of neonates, utilizing bedside electroencephalographic/polygraphic/ video monitoring techniques, have provided the basis for improved diagnosis and classification of seizures in the newborn. These studies have demonstrated that not all clinical phenomena currently considered to be seizures require electrocortical epileptiform activity for their initiation or elaboration. In addition, the specific clinical character of the phenomena considered to be seizures, the clinical state of the infant, and the character of the EEG indicate the probable pathophysiological mechanisms involved and suggest probable etiologies, prognosis, and therapy. Similarities between animal models that demonstrate reflex physiology and neonates with motor automatisms and tonic posturing suggest that these clinical behaviors may not be epileptic in origin but, rather, primitive movements of progression and posture mediated by brainstem mechanisms. Although not all clinical behaviors currently considered to be neonatal seizures may have similar pathophysiological mechanisms, they are clinically significant because they all indicate brain dysfunction.     

Valproate Monotherapy in the Management of Generalized and Partial Seizures

Summary: For decades, therapeutic tradition has promoted the concept of polypharmacy in the management of epilepsy. In recent years, however, studies have shown that, for most patients, monotherapy can provide comparable or better seizure control than administration of multiple anticonvulsants, while diminishing the potential for adverse reactions, drug interactions, and poor compliance. Valproate is an important monotherapeutic agent that is highly effective in the control of idiopathic primary and secondarily generalized epilepsies, and partial seizures that do not generalize. Comparative studies have found that valproate is at least as effective as phenytoin and carbamazepine in the treatment of generalized and partial seizures. Given the similar efficacy, other factors such as pharmacokinetics and side effects may therefore determine anticonvulsant selection for monotherapy.     

Carbamazepine Efficacy and Utilization in Children

Summary: Carbamazepine is effective for preventing partial and generalized tonic-clonic seizures in children. Although absence epilepsies are more common in children than adults, an estimated 80% of children with epilepsy have seizure types or epilepsies that are potentially responsive to carbamazepine. The differential diagnosis of ictal staring is an especially important issue in children because absence and atypical absence seizures are more prevalent in children than adults. Age-related pharmacokinetic differences and drug interactions are major considerations in children. On average, children have higher clearance rates of carbamazepine, shorter half-lives, and higher ratios of carbamazepine-10, 11-epoxide to carbamazepine than adults. In addition, children with severe epilepsy are more likely to require multiple-drug therapy, which can lead to complex drug interactions. When carbamazepine is administered along with valproate, drug protein binding interactions can cause intermittent side effects.     

Un nouveau cadre conceptuel de travail pour la psychiatrie

In an attempt to place psychiatric thinking and the training of future psychiatrists more centrally into the context of modern biology, the author outlines the beginnings of a new intellectual framework for psychiatry that derives from current biological thinking about the relationship of mind to brain. The purpose of this framework is twofold. First, it is designed to emphasize that the professional requirements for future psychiatrists will demand a greater knowledge of the structure and functioning of the brain than is currently available in most training programs. Second, it is designed to illustrate that the unique domain which psychiatry occupies within academic medicine, the analysis of the interaction between social and biological determinants of behavior, can best be studied by also having a full understanding of the biological components of behavior.     

Special Pharmacokinetic Considerations in Children

Summary: Pediatric patients have greater degrees of pharmacokinetic variability and unpredictability than adults. This variability results from the effects of pharmacogenetics, age and growth, prior and current comedication, and disease. Newborns with seizures have the least predictable dosage requirements, and their needs change as drug-eliminating mechanisms mature in the neonatal period. Infants have the highest relative capacities to eliminate antiepileptics of any age group and require the largest relative doses. In addition to age-related trends, children demonstrate the same drug-specific, pharmacokinetic phenomena that adults do, including nonlinear phenytoin elimination, nonlinear valproate binding, and autoinduction of carbamazepine. Intercurrent illness and drug interactions further modify the age-related pharmacokinetic patterns in children and make dosage requirements even more unpredictable. Recent studies have shown that febrile illness can affect drug elimination, sometimes decreasing drug levels by 50% or more. Intermittent treatment with benzodiazepines administered either orally or rectally can be an important adjunct and help minimize this type of problem for children with marginally controlled epilepsy. Intermittent benzodiazepines are also helpful for children who have febrile seizures and who need only occasional antiepileptic protection.