Benign Myoclonic Epilepsy of Infancy

ABSTRACT. We present a case of benign myoclonic epilepsy of infancy and analyze the characteristic electroclinical findings. We wish to emphasize the usefulness of recognizing this entity among myoclonic epilepsies in children to enable early treatment and to obtain a good prognosis.     

Self induced photosensitive epilepsy

The authors report a case of a 12-year-old girl who had rare self induced photosensitive epilepsy. She used to move her right hand over the right eye while simultaneously rubbing the forehead since the age of 8. During these episodes she was lost in herself. Lately these episodes were followed by brief spell of unconsciousness. The EEG examination, in its third attempt, revealed bilateral multiple symmetric spikes on photic stimulation. She admitted that she often induced the episode herself and derived pleasure out of it. She responded well to Sodium valproate     

Memory function in childhood epilepsy syndromes

OBJECTIVE: Children with epilepsy are at risk of specific cognitive deficits. We aimed to compare and characterize the memory function of children with childhood absence epilepsy (CAE), frontal lobe epilepsy (FLE) and temporal lobe epilepsy (TLE). METHODS: Epilepsy syndrome was identified by clinical data, seizure semiology, interictal and ictal electroencephalogram (EEG). Seventy children aged 6-18 years with CAE, FLE or TLE had neuropsychological assessment including memory function. After adjusting for epilepsy variables, neuropsychological results of the syndrome groups and normative data were compared. RESULTS: Children from all three syndrome groups were at risk of memory difficulties. The duration of epilepsy correlated negatively with memory function. Children with TLE had the worst memory function, significantly lower in verbal memory tasks than children with CAE (P = 0.02) and children with FLE (P = 0.01). The performance of children with TLE was significantly below the normed mean across all verbal and most visual tasks. Compared to the normed means, children with FLE had results that were statistically lower in some verbal and visual tasks, and children with CAE were lower in two visual tasks only. CONCLUSIONS: This study demonstrates memory dysfunction in three common childhood epilepsy syndromes. Children with TLE had the greatest impairment, children with FLE had memory difficulties not previously reported, and children with CAE had subtle memory deficits. Qualitative differences were also evident. Longer duration of intractable epilepsy was associated with reduced memory ability. Memory function and its potential impact on academic achievement are vital considerations when managing children with epilepsy.     

常以癫痫形式发病的遗传代谢病

遗传代谢病是一组以生化代谢异常为特征的单基因遗传病。癫痫发作是遗传代谢病常见的临床表现之一。已知至少5%的癫痫患者是由于遗传代谢病导致。各种各样的小分子代谢病（氨基酸、有机酸、糖、脂肪酸、金属、维生素、神经递质相关代谢障碍）和细胞器代谢病（线粒体、溶酶体、过氧化物酶体）均可表现为癫痫发作或癫痫综合征。遗传代谢病患者临床表现无特异性，生化检测和基因分析是诊断的主要工具。一些代谢性癫痫经过治疗可能减轻症状和改善预后。本文概述了代谢性癫痫的临床特点、辅助检查和治疗。     

Sulthiame in childhood epilepsy

BACKGROUND: Sulthiame is a central carbonic anhydrase inhibitor found to be effective for both partial and generalized seizures. It has been in use in some European countries and in Israel for over 30 years. The aim of the present study was to evaluate the efficacy and tolerability of sulthiame in childhood epilepsy by conducting a multicenter, retrospective study of patients who received this drug. METHODS: The charts of 125 consecutive epilepsy patients treated with sulthiame as monotherapy or add-on therapy were reviewed. RESULTS: Twenty-nine out of 39 patients with benign focal epilepsy of childhood became seizure-free. Total seizure control was also achieved in 17 of 42 patients with symptomatic, non-refractory localization-related epilepsy, and in all 10 cases with juvenile myoclonic epilepsy. Complete normalization of the EEG occurred in 13 of 20 patients with benign partial epilepy of childhood. Side-effects were minimal and caused discontinuation of treatment in only seven children. CONCLUSION: The high tolerability, efficacy, convenience of use and low cost suggest that sulthiame should become a first line drug in the benign partial epilepsies of childhood and juvenile myoclonic epilepsy. It also has a role as add-on treatment in other partial and myoclonic epilepsies.     

P-糖蛋白与难治性癫(癎)的相关性研究进展

癫(癎)耐药机制的研究已引起越来越多人的重视.P-糖蛋白(P-glycoprotein,Pgp)是近年来研究的热点之一,在体内主要起转运作用,其编码基因的多态性也影响着它的表达.该文从Pgp的编码基因多态性、多药转运蛋白假说、浓度平衡转运学说、Pgp抑制后效应方面就Pgp与癫(癎)耐药的相关性进行综述.     

Early classification of childhood focal idiopathic epilepsies: Is it possible at the first seizure?

PurposesTo evaluate the possibility of early syndrome classification of idiopathic partial epilepsies in children at the first seizure.Patients and methodsIn this observational study we prospectively evaluated 298 patients, aged between 1 month and 17 years and consecutively referred for the first unprovoked focal seizure. The whole cohort included 133 patients; the final analysis was carried out on 107 (59 males) individuals. Age at the first seizure ranged between 2.3 and 13.0 years. Clinical and EEG data of all patients were independently reviewed by two medical doctors. Patients were followed-up for at least 5 years, with a mean period of follow-up of 6.9 years.ResultsAfter the first seizure, a specific syndrome could be diagnosed in eighty (74.7%) children. In particular, Childhood Epilepsy with Centro-Temporal Spikes (CECTS) 42.9% of cases, Panayiotopoulos Syndrome (PS) 28.9%, idiopathic childhood occipital epilepsy of Gastaut (ICOE-G) 2.8%. Unclassified cases were 25.4%. At the end of the follow-up, the diagnosis was confirmed in 72 of 80 children (90%): BCECTS 89% of patients, PS 90% and ICOE-G 100%: among the unclassified cases, in 11 patients (40.7%) the diagnosis did not change, whereas 16 patients (59.3%) evolved into other syndromes or into atypical forms.ConclusionsAt the onset an initial diagnosis is possible in the majority of cases; epilepsy syndromes can be identified at the time of the initial diagnosis and at follow up this diagnosis has not to be revised in 90% of the cases.     

Eating epilepsy or feeding epilepsy in an infant

A five month old infant is reported with Eating Epilepsy (feeding epilepsy/feeding related epilepsy). This is an uncommon type of reflex epilepsy in children, and should be considered if the history and investigations for gastro esophageal reflux and apparent life threatening event are negative. A clear stepwise history helps in diagnosis.     

Progressive myoclonic epilepsies: Recent genetic advances

The progressive myoclonic epilepsies are a rare group of debilitating epileptic encephalopathies characterized by myoclonic seizures, progressive neurological dysfunction and dementia. In the past year advances in gene mapping have isolated gene loci for the majority of progressive myoclonic disorders, paving the way for specific diagnosis, more accurate prognosis and risk calculation, as well as opening the potential for prenatal and pre-symptomatic diagnosis in at risk families.     

儿童癫标准过度换气量化脑电图研究

目的　研究标准过度换气量化脑电图对小儿癫诊断的临床价值。方法　应用“F L Y-2”型神经生理信息工作站 ,分析 40例癫患儿及 40例正常儿童过度换气前后不同时段脑电图样本 ,计算脑电图信号的功率谱密度 ,进行统计分析 ,比较两组间的差异。结果 　 1过度换气 3min时癫患儿其慢波 (δ、θ)较正常儿童明显增多 ( P<0 .0 5 )。全导α 2波较正常对照组减少。停止换气后 30 s时 ,正常儿童脑电图已恢复至换气前水平 ,癫患儿 EEG慢波 (δ、θ波 )仍多于对照组。结论　过度换气使癫患儿脑电图明显慢波化 ,对脑电图无棘波发放的癫患儿有辅助诊断的作用     

345例儿童癫痫和癫痫综合征发作类型临床分析

目的探讨儿童癫痫和癫痫综合征发作类型的分布。方法回顾分析2018年2-8月在2家医院儿童癫痫专科门诊就诊的345例患儿的临床资料,并按照最新分类方案统计发作类型的分布情况。结果 345例癫痫患儿中男176例、女169例;癫痫起病年龄3岁145例(42.0%),～6岁96例(27.8%),～12岁97例(28.1%),～18岁7例(2.0%)。345例患儿中未归为癫痫综合征159例(46.1%),发作类型为局灶性发作83例(52.2%)、全面性发作74例(46.5%)、起始不明发作2例(1.3%);可诊断为癫痫综合征186例(53.9%),伴中央颞区棘波儿童良性癫痫63例(33.9%)、良性婴儿癫痫24例(12.9%)、婴儿痉挛18例(9.7%)、Dravet综合征18例(9.7%)及儿童失神癫痫13例(7.0%),发作类型为局灶性发作146例次(58.6%)、全面性发作103例次(41.4%)。结论儿童癫痫发病以婴幼儿期最多,局灶性发作较全面性发作多,半数患儿诊断为癫痫综合征。     

Sudden unexplained death in children with epilepsy: a cohort study with an eighteen-year follow-up

Aim: Sudden unexplained death is a significant cause of mortality in adults with epilepsy. Only a few data exist about this risk in childhood. Methods: Cases of sudden unexplained death in epilepsy (SUDEP) up to the age of 18 y occurring at our hospital between 1984 and 2001 were identified. The incidence rate was calculated on the basis of diagnosed epileptics registered with a statutory disability insurance scheme. Results: Four cases of SUDEP were identified during the 18-y period. The incidence of SUDEP was 4.3 per 10 000 patient-years. All children showed polytherapy-refractory epilepsy, developmental retardation and early-onset epilepsy. Two witnessed cases had shown no previous signs of seizure.

Conclusion: SUDEP is rare in childhood. Children with uncomplicated epilepsy seem not to be at risk.     

Circulating neural antibodies in unselected children with new-onset seizures

Objective

The role of autoimmunity and neural antibodies is increasingly recognized in different forms of seizures and epilepsy. Their prevalence in new-onset epilepsy has also recently been the focus of several clinical cohorts in the adult and pediatric population, with positive titers in 10–11% of cases. Our aim was to determine the seropositivity at the first seizure onset in a non-selective group of children.

��ﻼ������������Ը߰�Ѫ֢���ٴ��о�

目的探讨癫痫患儿服用丙戊酸(VPA)后高氨血症的发生情况及意义。方法 2006年1月至2010年6月青岛大学医学院附属医院儿科门诊、神经科门诊和病房单用VPA且资料完整的癫痫患儿78例,测量其用药后血氨的变化,分析伴或不伴症状的高氨血症与VPA药物剂量、药物浓度、癫痫病因的相关性。结果单用VPA的癫痫患儿发生VPA相关性高氨血症21例,其中有症状者13例。特发性和隐源性癫痫(ICE)组中的血氨值明显高于症状性癫痫(SE)组(P<0.05),但服用VPA剂量及血VPA药物质量浓度均低于SE组(P<0.05)。无症状-ICE组服用VPA剂量低于无症状-SE组(P<0.05)但血氨浓度和血VPA质量浓度与无症状-SE组差异无统计学意义(P>0.05);而有症状-ICE组血氨浓度高于有症状-SE组(P<0.05),但服用VPA剂量及血VPA质量浓度低于有症状-SE组(P<0.05)。ICE组内与SE组内无论是否有症状,其血氨、服用VPA剂量和血VPA药物质量浓度差异皆无统计学意义(P>0.05)。结论临床医生应密切关注服用VPA的癫痫患儿,一旦发生高氨血症应予停药。     

伴中央-颞区棘波的儿童良性癫35例临床和脑电图特征

目的探讨伴中央-颞区棘波的儿童良性癫(BECTS)的临床和脑电图(EEG)特征。方法对2003年7月-2008年12月在本院癫门诊就诊的35例BECTS患儿的临床资料、EEG结果、药物治疗反应及预后进行回顾性分析。结果本组35例BECTS患儿的起病年龄为2.5～14.0岁,其中6～10岁为发病高峰(62.9%)。表现为局限性发作22例:一侧面部抽搐、流涎、咽喉发声、肢体强直或阵挛,部分继发全面性强直阵挛发作。仅表现为全面强直阵挛发作者13例。发作与睡眠密切相关,26例仅在睡眠期(包括午睡)发作,且多出现于入睡后不久或清醒前。所有患儿发作间期EEG背景活动正常,可见一侧或双侧中央-颞区尖波/棘波,发放频度于入睡后明显增加,睡眠期EEG监测可提高阳性率。应用小剂量抗癫药物单药治疗疗效好,25例在用药3～4个月停止发作,本组33例已停止发作,停止发作的年龄为4.5～16.0岁,12例已停止药物治疗。结论BECTS多发生于学龄期儿童,表现为局限性发作,也可全面泛化,发作与睡眠密切相关,睡眠期EEG监测具有重要诊断价值,EEG表现为一侧或双侧中央-颞区尖波/棘波,小剂量抗癫药物单药治疗反应良好,预后一般良好。     

国际抗癫痫联盟2017年版癫痫分类特点及其解读

国际抗癫痫联盟(ILAE)从1909年开始一直在改进癫痫分类法,尤其当1960年提出这个分类方法的新概念之后取得了迅速的发展。1985年,由于新知识的不断积累和激烈的学术争鸣,产生了具有里程碑意义的"ILAE癫痫和癫痫综合征分类",并于1989年进行了修订。后来这个分类对全球范围癫痫的医疗和研究产生了巨大影响[1]。