1943例儿童癫痫病因及其与癫痫性脑病的相关性分析

发布时间：2018-03-17 06:28

本文选题：儿童癫痫　切入点：病因分析　出处：《山东大学》2017年硕士论文　论文类型：学位论文

【摘要】：目的:回顾性分析1943例儿童癫痫的发病原因及发生癫痫性脑病的相关影响因素。方法:1.建立癫痫调查表,收集2004年1月-2016年1月于山东大学齐鲁医院小儿神经科确诊的1943例癫痫儿童的基本信息、体格检查、病史资料、辅助检查、治疗及病情控制情况等;2.所有病例随访1年以上;3.对所有的癫痫儿童进行病因分类,并根据是否存在进行性神经精神功能障碍,将患儿分为癫痫性脑病组和非癫痫性脑病组;4.统计方法,使用分类计数资料两组间比较采用卡方检验四格表法,应用SPSS 19.0软件对1943例计数资料进行X2检验,其中P0.05表明差异具有统计学意义。结果:1.1943例癫痫患者中,男1151例,女792例,男女之比为1.45:1,起病年龄0-16岁,其中70.5%在3岁以内起病,中位数是1岁3月;2.病因分布:遗传性即由明确基因突变引起的共49例(占2.52%);结构性即影像检查有明确结构异常的共623例(占32.06%),前三位病因分别为:先天脑发育异常305例、生后中枢系统感染130例、围生期脑损伤111例;代谢性即通过遗传代谢筛查及各种化验检查明确代谢异常的共43例(占2.21%),以甲基丙二酸血症13例、线粒体病12例、苯丙酮尿症4例为主;未知病因性即病因不明的共 1228 例(占 63.2%);3.随访至少至确诊癫痫后1年,发生癫痫性脑病的癫痫儿童共519例(占26.7%);4.癫痫脑病组和非癫痫性脑病组相比较,两组出生异常病史(P=0.034)、热性惊厥史(P0.0001)、起病年龄分布(P0.0001)和不同病因分布(P0.0001)的差异有统计学意义,两组在神经系统疾病家族史的差异无统计学意义(P0.05);结构性病因中,两组患儿在先天性脑发育异常(P=0.034)和围生期脑损伤(P0.0001)中的分布差异具有统计学意义,在中枢系统感染病史中的分布差异无统计学意义。结论:1.癫痫的发病率在婴幼儿期及学龄前期较高,1岁以内最高,以后随着年龄增长逐渐降低,男性略多于女性;2.在癫痫发生的已知病因中,结构性病因占比例最大,先天脑发育异常、中枢系统感染、围生期脑损伤又是结构性病因中最重要的构成;3.在结构性病因中,3岁以前最多见于先天脑发育不良和围生期脑损伤,随年龄增长降低,3岁以后中枢系统感染成为儿童癫痫最主要的病因;4.癫痫性脑病多发生于低年龄组,出生史异常、先天脑发育异常可增加发生癫痫性脑病的风险,具有热性惊厥病史的患儿显示良性倾向(除Dravet综合征外);5.加强围生期管理,加强对颅脑先天畸形及先天代谢性疾病的筛查,是降低儿童癫痫患病率、癫痫性脑病发生率及提高国民人口素质的重要措施。
[Abstract]:Objective: to retrospectively analyze the causes of epilepsy in 1943 children and the related influencing factors of epileptic encephalopathy. Methods: 1. To collect the basic information, medical examination, medical history and auxiliary examination of 1 943 epileptic children diagnosed in Department of Pediatric Neurology, Qilu Hospital, Shandong University from January 2004 to January 2016. 2. All cases were followed up for more than one year. The etiology of all epileptic children was classified according to the existence of progressive neuropsychiatric dysfunction. The children were divided into epileptic encephalopathy group and non-epileptic encephalopathy group. The statistical method was used to compare the classified counting data between the two groups by chi-square test four-grid table method, and the X2 test was performed by SPSS 19.0 software. Results there were 1151 males and 792 females in 1.1943 patients with epilepsy. The ratio of male to female was 1.45: 1. The onset age was 0-16 years old, and 70.5% of them started within 3 years of age. The median was 1 year old in March. The etiological distribution was 49 cases (2.522%) caused by a definite gene mutation, and 623 cases (32.06%) with structural or imaging abnormalities. The first three causes were: 305 cases of congenital brain dysplasia. There were 130 cases of postnatal central system infection, 111 cases of perinatal brain injury, 43 cases (2.21%) of metabolic disorders identified by genetic metabolic screening and various laboratory tests, 13 cases of methylmalonic acidemia, 12 cases of mitochondrial disease, 13 cases of postnatal central nervous system infection and 111 cases of perinatal brain injury. 4 cases of phenylketonuria, 1228 cases (63.2%) of unknown etiology, 519 cases of epileptic encephalopathy (26.7%) were followed up until at least one year after the diagnosis of epilepsy. The comparison between epileptic encephalopathy group and non-epileptic encephalopathy group, There were significant differences between the two groups in the history of abnormal birth, febrile convulsion, age distribution of onset (P 0.0001) and the distribution of different etiology (P 0.0001). There was no significant difference in family history of nervous system diseases between the two groups (P 0.05). There were significant differences between the two groups in the distribution of congenital cerebral dysplasia (P0. 034) and perinatal brain injury (P0. 0001). There was no significant difference in the distribution of central nervous system infection history. Conclusion 1. The incidence of epilepsy is the highest in infancy and early school age, and then decreases gradually with the increase of age. Among the known causes of epilepsy, structural causes account for the largest proportion, congenital brain dysplasia, central nervous system infection, Perinatal brain injury is also the most important component of structural etiology. 3. The most common structural etiology is congenital brain dysplasia and perinatal brain injury before the age of 3 years. Central nervous system infection is the main cause of epilepsy in children after 3 years of age. Epileptic encephalopathy occurs in younger age group, birth history abnormality and congenital cerebral dysplasia may increase the risk of epileptic encephalopathy. Children with a history of febrile convulsion showed a benign tendency (except for Dravet syndrome). Strengthening perinatal management and screening for congenital craniocerebral malformations and congenital metabolic diseases could reduce the prevalence of epilepsy in children. Incidence of epileptic encephalopathy and important measures to improve the quality of the national population.
【学位授予单位】：山东大学
【学位级别】：硕士
【学位授予年份】：2017
【分类号】：R742.1

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