年龄依赖性癫癎性脑病的治疗进展

年龄依赖性癫性脑病是 1976年由日本学者大田原俊辅提出 ,其包括大田原综合征 (早婴型癫性脑病伴爆发抑制 ,Ohtahara综合征 ,EIEE)、婴儿痉挛 (West综合征 )、Lennox -Gastaut综合征 (Lennox -Gastautsyndrome,LGS)。具有以下特点 :1.在特定的年龄阶段发病 ;2 .有特定类型的临床发作 ;3.持续性特异性样放电 ;4 .伴智力落后 ;5 .病程进展 ,随年龄增长可演变为另一型。多数治疗困难、预后不良。但抗癫新药的出现也为控制癫性脑病提供更多的治疗选择。本文将对年龄依赖性癫性脑病的治疗进展做一综述。　　一、Lennox -Gastau…     

年龄依赖性癫痫性脑病患儿的血清细胞因子变化

目的 探讨白细胞介素2(IL-2)、肿瘤坏死因子α (TNFα)和干扰素α (IFNα)在年龄依赖性癫痫性脑病(ADEE)患儿血清中的变化。方法 采用双抗体夹心酶联免疫吸附试验(ELISA)检测20例ADEE患儿血清中IL-2,TNFα和IFNα的水平,年龄和性别相匹配的20例正常儿童为对照组。结果 癫痫组血清IL-2,TNFα和IFNα水平均明显高于对照组分别为(379.53±44.86) ng/L比(239.66±21.03) ng/L;(962.42±107.69) ng/L比(501.62±38.93) ng/L;(586.12±84.86) ng/L比(329.56±30.43) ng/L。(t=2.59,3.51,2.71,P分别<0.05,0.01,0.05)。相关分析发现ADEE患儿血清IL-2与TNFα水平之间呈显著正相关(r=0.671,P<0.01)。结论 ADEE患儿存在免疫功能异常,细胞因子参与了免疫病理损害过程。     

年龄依赖性癫痫性脑病患儿的血清细胞因子变化

目的 探讨白细胞介素2(IL-2)、肿瘤坏死因子α (TNFα)和干扰素α (IFNα)在年龄依赖性癫痫性脑病(ADEE)患儿血清中的变化。方法 采用双抗体夹心酶联免疫吸附试验(ELISA)检测20例ADEE患儿血清中IL-2,TNFα和IFNα的水平,年龄和性别相匹配的20例正常儿童为对照组。结果 癫痫组血清IL-2,TNFα和IFNα水平均明显高于对照组分别为(379.53±44.86) ng/L比(239.66±21.03) ng/L;(962.42±107.69) ng/L比(501.62±38.93) ng/L;(586.12±84.86) ng/L比(329.56±30.43) ng/L。(t=2.59,3.51,2.71,P分别<0.05,0.01,0.05)。相关分析发现ADEE患儿血清IL-2与TNFα水平之间呈显著正相关(r=0.671,P<0.01)。结论 ADEE患儿存在免疫功能异常,细胞因子参与了免疫病理损害过程。     

DNM1基因变异相关发育性癫痫性脑病基因型及表型特点研究北大核心CSCD

目的总结DNM1基因变异相关发育性癫痫性脑病患儿的基因型及临床表型特点。方法回顾性收集2017年6月至2021年10月北京大学第一医院儿科门诊就诊的15例DNM1基因变异相关癫痫患儿资料, 分析其基因变异及临床特点。结果 15例患儿中, 男8例, 女7例;癫痫起病年龄为15 d~22月龄, 中位起病年龄为8月龄。15例DNM1基因变异均为新生杂合变异, 其中错义变异13例、移码变异1例、无义变异1例, 8例变异位点为尚未报道的新变异。癫痫发作类型包括:痉挛发作15例、局灶性发作9例、不典型失神发作2例、强直发作2例。7例患儿有多种发作类型, 9例首次发作为痉挛发作。15例均有发育落后, 其中11例在出现癫痫发作前即有发育落后。脑电图背景节律减慢3例, 发作间期显示高度失律13例;8例监测到临床发作, 其中痉挛发作7例, 强直发作1例。头颅磁共振检查示额颞区蛛网膜下腔增宽6例、大脑皮质萎缩2例、胼胝体发育不良3例。15例均诊断为发育性癫痫性脑病, 其中13例符合婴儿痉挛症。末次随访年龄1~7岁, 予多种抗癫痫药物联合治疗后, 2例发作缓解, 1例(同卵双胎之小)2岁时因重症肺炎死亡, 12例仍有间断发作, 其中1例由婴儿痉挛症转型为Lennox-Gastaut综合征。结论 DNM1基因变异相关发育性癫痫性脑病多在婴儿期起病, 高峰起病年龄为8月龄。癫痫发作类型主要为痉挛发作和局灶性发作, 发育落后可出现在癫痫发作之前。临床多表现为婴儿痉挛症, 少数患儿可转型为Lennox-Gastaut综合征。     

类细胞周期蛋白依赖性蛋白激酶5基因新生变异致癫痫性脑病1例

目的:探讨类细胞周期蛋白依赖性蛋白激酶5 (CDKL5)基因新生变异致早发性婴儿癫痫性脑病2型(EIEE2)的临床特点、诊治现状和存在的问题。方法:回顾性分析2019年8月12日就诊于南京医科大学附属儿童医院新生儿内科的1例CDKL5基因新生变异致EIEE2患儿的病史资料、辅助检查及诊治特点,并结合相关文献,总结该病的...     

WWOX基因复合杂合变异致早发性癫痫性脑病1例

对2020年4月在济南市儿童医院神经内分泌科住院治疗的1例早发性癫痫性脑病患儿的临床资料进行回顾性分析。患儿,男,1月龄时因"抽搐4 d"入院,发作形式为强直发作、强直痉挛发作,伴有喂养困难、体质量增长慢、全面发育迟缓,脑电图示多灶性放电、不典型高度失律,头颅磁共振成像显示髓鞘化落后,家系全外显子组测序示 W...     

ARV1基因变异致婴儿早发性癫痫性脑病一例并文献复习

目的:总结 ARV1基因变异致婴儿早发性癫痫性脑病的临床表型及遗传学特点。 方法:回顾性分析复旦大学附属儿科医院2020年6月接诊的1例 ARV1基因变异致婴儿早发性癫痫性脑病患儿的临床资料,并以"癫痫性脑病""癫痫""ARV1基因"和"ARV1gene" "epilepsy""sei...     

托吡酯单药治疗与添加治疗年龄依赖性癫癎性脑病对照研究

目的　探讨早期有效控制年龄依赖性癫性脑病 (ADEE)的理想药物。方法　选择ADEE患儿 48例 ,其中 2 1例初治单用托吡脂治疗 (初治组 ) ;传统一线抗癫药 (AEDs)治疗效果不佳 2 7例添加托吡脂治疗。结果　托吡脂早期单药治疗完全控制发作 11例 ,添加治疗 4例 ,经统计学处理有显著性差异 (P <0 .0 5) ;单药治疗显效时间 12 .2 8± 7.0 6d ,有效剂量 3± 1.3 7mg/ (kg·d) ,较添加组 3 3± 11.98d、6.78± 2 .0 4mg/ (kg·d)显效快、有效剂量小 ,经统计学处理有显著性差异 (P均 <0 .0 1)。结论　TPM治疗ADEE早期单药较添加效果好 ,ADEE一经确诊可早期选择TPM治疗     

The psychological development of children of epileptic parents. I. Study design and comparative findings

We studied the genetic, neurobiological, teratogenic and psychosocial risks for the development of children born to epileptic parents in (a) children of epileptic mothers with intrauterine exposure to anticonvulsants, (b) children of epileptic mothers without intrauterine exposure to anticonvulsants and (c) children of epileptic fathers. In addition, three matched control groups were also considered. The longitudinal design of the study covered newborns to children of six years of age. A wide range of developmental and psychological tests and a structured interview for the assessment of psychiatric symptoms were used. It was shown that teratogenic factors are operant, whereas there was no indication that the condition of epilepsy in the parents per se had any effect on the developmental outcome of the children. The possible teratogenic effect of anticonvulsants should be studied in more detail.     

The offspring of epileptic mother

The offspring of an epileptic mother is an issue-currently getting attention because of its several implications. A complex interaction between epilepsy during pregnancy and its adverse impact on foetus, labor, neonate, congenital malformation, psychosocial and medico-social concern and treatment challenges of such cases is increasingly being realised. Some of the significant observations has been reviewed extensively in this article. Maternal epilepsy is likely to adversely affect the off-spring at its various stages of development amounting to increased morbidity and mortality. Increased seizure frequency during pregnancy with resultant increased risk is well documented but its mechanism is poorly understood. Low apgar score, increased still birth rates (1.3 to 14%) in offspring of epileptic mother (OEM) is reported. So also, the neonatal and perinatal deaths are twice more common in OEMS than normal control. Small for dates, and prematurity in OEM is reported to be 7 to 10% and 4–11% respectively. Adverse impact on labor and delivery like preclampsia, abruptio placentae, polyhydramnios, assisted delivery, cesarean section and IUGR poses particular challenges to the obstetrician. Pediatrician's alertness is needed to anticipate and deal with the bleeding manifestation due to deficiency of Vit-K dependent clotting factors and various anticonvulsant drug (AED) withdrawal symptoms. Significant risk of developing congenital malformation is the result of epilepsy perse and the AED used during pregnancy. AED exposure leads to other distinct clinical syndromes, the orofacial clefts and cardiac anomalies being the commonest manifestation. Epilepsy in mother but not in father has significant adverse impact. Management strategies in the context, of available observation has been discussed.     

癫痫儿童生活质量的研究

目的研究癫痫儿童的生活质量。方法应用美国癫痫生活质量量表，对１９２例癫痫儿童进行生活质量的评估，探讨影响因素并与正常儿童进行比较。结果癫痫儿童的生活质量明显低于正常儿童，主要表现在对发作的恐惧、长期用药的担忧、认知功能的障碍及社会交往的困难。即使发作已被控制，其生活质量并无明显改善。生活质量高低因发作类型不同而各异。结论对癫痫儿童应加强综合治疗，特别要进行心理干预，才能提高其生活质量。