本文關(guān)鍵詞：良性嬰兒癲癇的臨床特點及PRRT2基因突變檢測　出處：《山東大學》2017年碩士論文　論文類型：學位論文

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【摘要】：研究目的:良性嬰兒癲癇(benign infantile epilepsy,BIE)是臨床常見的兒童癲癇類型,總體預后良好,病程自限,曾被稱為嬰兒良性部分性癲癇。隨著對該疾病的認識不斷加深,臨床診斷BIE的患兒2歲后仍有發(fā)作的病例報道逐漸增多,而且隨著大家對高級神經(jīng)活動的重視,發(fā)現(xiàn)了部分患兒出現(xiàn)一定程度的認知障礙、語言發(fā)育落后。關(guān)于該疾病的分子遺傳學研究也不短取得新進展,有研究證實少數(shù)BIE的患兒存在PRRT2基因突變。為了能夠在發(fā)病初期準確判斷疾病預后、指導治療,本文收集了 35例BIE的臨床資料,對比分析其臨床特點、腦電圖改變、影像學、治療效果等,并對患者進行PRRT2基因突變篩查,以尋求早期評估預后的客觀指標。方法:1.收集2013年7月至2016年6月于山東省千佛山醫(yī)院住院的35例BIE的臨床資料,分析其性別,首次發(fā)病年齡,臨床發(fā)作特點,腦電圖檢查、其他輔助檢查及治療等情況,并隨訪其預后轉(zhuǎn)歸。用Microsoft Excel進行數(shù)據(jù)分析:計量資料用均值±標準差、最大值、最小值表示;計數(shù)資料則用例數(shù)、百分數(shù)表示。2.收集患者外周血DNA,采用PCR擴增和Sanger測序的方法篩查PRRT2基因突變。結(jié)果:1.一般情況:35例患者中,男性18例(51.43%),女性17例(48.57%)。最小發(fā)病年齡為2月,最大發(fā)病年齡為1歲11月,平均發(fā)病年齡為10.72±6.746個月。其中在1歲以內(nèi)發(fā)病者23例(65.71%),1歲～2歲發(fā)病者12例(34.29%)。所有患兒發(fā)病前后精神運動發(fā)育正常,無圍產(chǎn)期高危因素,無外傷、中樞神經(jīng)系統(tǒng)感染等其他情況所致腦損害。31例(88.57%)患兒無熱性驚厥或癲癇家族史;4例有癲癇家族史。2.臨床特點(1)叢集性35例患者中有18例(51.43%)發(fā)病初期存在叢集性發(fā)作,最多者11次/日。其余17例(48.57%)患兒為單次發(fā)作。(2)持續(xù)時間35例患兒病程中141次驚厥發(fā)作,其中43次(30.50%)持續(xù)時間1min,86次(60.99%)持續(xù)時間在1-3min,12次(8.51%)持續(xù)時間3-5min。(3)發(fā)作類型根據(jù)患兒家長描述發(fā)作時表現(xiàn),發(fā)作類型有局灶性發(fā)作(6例,17.14%)、局灶性發(fā)作繼發(fā)全面性發(fā)作(11例,31.43%)以及全面性發(fā)作(18例,51.43%)。3.腦電圖(EEG):所有患兒至少完善一次視頻腦電圖檢查,平均為2.1次。所有患兒腦電圖背景活動正常。3例(8.57%)患者監(jiān)測到共16次發(fā)作。異常放電均為局灶起源,1例患兒起源于右額區(qū),1例起源于右側(cè)中央、頂區(qū),1例起源于枕區(qū)。15例(42.86%)患兒雖未監(jiān)測到發(fā)作,但病程初期及隨訪期間睡眠期癇性放電持續(xù)存在,3例(8.57%)患兒在病程初發(fā)作間期腦電圖正常,但隨訪過程中睡眠期出現(xiàn)癇性波發(fā)放,放電主要來源于單側(cè)或雙側(cè)的中央、中線區(qū),少部分來源于枕部及后顳區(qū)。其余14例(40%)患兒為正常腦電圖。4.CT/MRI 30例患兒行顱腦CT(4例)或MRI(26例)檢查,29例(96.67%)無異常,1例(3.33%)提示髓鞘發(fā)育不良。另外5例因檢查失敗家長拒絕。5.腦脊液檢查12例患兒完善腦脊液檢查。所有患兒腦脊液壓力、常規(guī)、生化、培養(yǎng)等檢測均未見異常。6.其他輔助檢查入院后完善血尿便常規(guī)、肝腎功、心肌酶、電解質(zhì)等生化檢查。血常規(guī)及生化檢查中血象輕度增高者3例;谷草轉(zhuǎn)氨酶輕度增高者6例;CKMB輕度增高者9例;輕度低鈉血癥1例;余未見明顯異常。35例患兒完善血糖檢測,其中1例輕度增高,余未見異常。部分患兒同時伴有胃腸炎表現(xiàn),5例患兒完善大便輪狀病毒抗原檢測,其中3例檢測結(jié)果為陽性,2例陰性。7.PRRT2基因突變篩查結(jié)果實驗對35例患者進行了 PRRT2基因測序,未篩查出PRRT2突變。8.治療和隨訪15例患兒因初期發(fā)作不頻繁,家長拒絕抗癲癇藥物治療,其中12例無復發(fā),3例患兒復發(fā)后加用抗癲癇藥物后均已控制,其中2例選擇丙戊酸鈉,1例左乙拉西坦。20例患兒首次就診后即開始接受單藥抗癲癇治療。18例患兒在口服抗癲癇藥物后1月內(nèi)停止發(fā)作,其中1例在開始治療后2周出現(xiàn)1次胃腸炎誘發(fā)驚厥,后未再復發(fā)。2例患兒在3歲后仍有驚厥發(fā)作,發(fā)作類型同前�；純弘S訪時間在5-36個月,平均時長16.7個月。多數(shù)患兒在3歲前停止發(fā)作。其中末次發(fā)作年齡=1歲者14例(40.00%),1歲～2歲者16例(45.71%);3例(8.58%)患者末次發(fā)作時間在2～3歲,2例(5.71%)患兒末次發(fā)作年齡3歲。隨訪期間患兒精神運動發(fā)育無明顯異常。結(jié)論:(1)BIE具有自限性,總體預后良好,多數(shù)患者在抗癲癇治療后短期內(nèi)停止發(fā)作。(2)少數(shù)以BIE的臨床表現(xiàn)起病的患兒,其臨床經(jīng)過并非呈良性、自限性,需要較長時間的抗癲癇藥物治療。(3)本組2例3歲后仍有癲癇發(fā)作的患兒起病年齡分別為1歲11月和1歲9月,較平均年齡偏大。(4)本組BIE患兒未檢測到PRRT2基因點突變。
[Abstract]:Research purposes: benign infantile epilepsy (BIE) is a common type of childhood epilepsy. Its overall prognosis is good and its duration is limited. It has been called benign partial epilepsy in infants. With the deepening of the understanding of the disease, the number of children who have been diagnosed with BIE has increased gradually after the age of 2 years old. And with the attention of advanced nervous activity, a number of children developed a certain degree of cognitive impairment and language development. The molecular genetic study of the disease has also made new progress. Studies have shown that a small number of BIE children have PRRT2 gene mutations. In order to accurately determine the prognosis of the disease in the early stage of the disease and guide the treatment, this paper collected the clinical data of 35 cases of BIE, comparative analysis of the clinical characteristics, EEG, imaging, treatment, and patients with PRRT2 gene mutation screening, objective index to seek early prognosis assessment. Methods: 1.. The clinical data of 35 cases of BIE from July 2013 to June 2016 in Qianfo Hill Hospital of Shandong province were collected, and their gender, age of onset, clinical seizure characteristics, EEG examination, other auxiliary examinations and treatment were analyzed, and the prognosis of patients was followed up. Microsoft Excel is used for data analysis: the measurement data are expressed with mean standard deviation, maximum value and minimum value; count data are represented by use case number and percentage. 2. the peripheral blood DNA was collected and the PRRT2 gene mutation was screened by PCR amplification and Sanger sequencing. Results: 1. general cases: of the 35 patients, 18 were male (51.43%), and 17 (48.57%) were female. The minimum age of onset was February, the maximum age of onset was 1 years in November, and the average age of onset was 10.72 + 6.746 months. Among them, there were 23 cases (65.71%) and 12 cases (34.29%) from 1 to 2 years of age under 1 years of age. All the children had normal mental motor development before and after the onset of the disease. There was no high risk factors for perinatal period, no brain damage caused by other cases such as trauma and central nervous system infection. 31 cases (88.57%) had no febrile convulsion or family history of epilepsy; 4 had a family history of epilepsy. 2. of the clinical characteristics (1) of the 35 patients with cluster, 18 (51.43%) had a series of episodes at the beginning of the onset, with a maximum of 11 times per day. The remaining 17 cases (48.57%) were single episodes. (2) duration of seizures occurred in 35 children, including 43 (30.50%) duration 1min, 86 times (60.99%), duration 1-3min, 12 times (8.51%) duration 3-5min. (3) the types of seizures were described according to the parents' seizures. There were focal seizures (6 cases, 17.14%), focal attacks followed by generalized seizures (11 cases, 31.43%), and generalized seizures (18 cases, 51.43%). 3. electroencephalogram (EEG): all children had at least one video electroencephalogram at least once, averaging 2.1 times. The background activity of electroencephalogram in all children was normal. A total of 16 episodes were monitored in 3 (8.57%) patients. The abnormal discharge is the focal origin, 1 children originate in the right frontal area, 1 cases originate in the right central and top area, and 1 cases originate in the occipital region. 15 cases (42.86%) were not detected during the attack, but the course of initial and follow-up period of sleep epileptic discharge persisted, 3 cases (8.57%) patients in the early course of interictal EEG was normal, but the process of follow-up period of sleep epileptic wave discharge, discharge mainly from unilateral or bilateral central, midline area and a little from the occipital and posterior temporal area. The rest of the 14 cases (40%) were normal electroencephalogram. 30 cases of 4.CT/MRI were examined with craniocerebral CT (4 cases) or MRI (26 cases), 29 cases (96.67%) had no abnormality, 1 cases (3.33%) showed myelin dysplasia. The other 5 cases were rejected by the parents who failed to check. 5. cerebrospinal fluid examinations were performed in 12 cases, and the cerebrospinal fluid examination was perfected. No abnormality was found in all children's cerebrospinal fluid pressure, routine, biochemical, and culture. 6. other auxiliary examination after admission to improve the routine hematuria, liver and kidney work, myocardial enzymes, electrolytes and other biochemical tests. 3 cases of blood routine and biochemical examination in 6 cases of mild increased; aspartate aminotransferase increased slightly; 9 cases of slightly increased CKMB; 1 cases of mild hyponatremia; no other abnormalities. 35 cases of children improved blood glucose test, of which 1 cases were slightly higher, and no abnormalities were found. Some of the children were accompanied by gastroenteritis, 5 cases improved the detection of stool rotavirus antigen, of which 3 cases were positive, 2 cases were negative. The 7.PRRT2 gene mutation screening test showed that the PRRT2 gene was sequenced in 35 patients, and the PRRT2 mutation was not screened. 8., 15 children with treatment and follow-up were not treated with antiepileptic drugs because of infrequent initial attacks, of which 12 cases did not recur. 3 cases were controlled after the use of antiepileptic drugs after recurrence. 2 of them were valproate and 1 left Ne Laci Staw. 20 cases of children began to receive single drug antiepileptic treatment after the first visit. 18 cases were stopped after oral antiepileptic drugs in January, of which 1 cases had 1 gastroenteritis induced convulsions 2 weeks after the beginning of treatment, and no recurrence was found. 2 children at the age of 3 after a seizure, seizure types. The children were followed up for 5-36 months, with an average length of 16.7 months. Most of the children cease their seizures before the age of 3. Among them, the last attack age was =1 years old, 14 cases (40%), 1 to 2 years old 16 cases (45.71%), 3 cases (8.58%) patients had the last attack time in 2~3 years old, 2 cases (5.71%) children last attack age 2 years old. There was no obvious abnormal mental movement in the children during the follow-up period. Conclusion: (1) BIE is self limiting, and the overall prognosis is good. Most patients stop in the short term after antiepileptic treatment. (2) a few children with BIE clinical manifestations are not benign and self limiting, and need a long time of antiepileptic drugs. (3) the onset age of 2 children with epileptic seizures after 3 years of age was 1 year November and 1 year September, the average age was larger than the average age. (4) PRRT2 gene point mutation was not detected in children with BIE in this group.
【學位授予單位】：山東大學
【學位級別】：碩士
【學位授予年份】：2017
【分類號】：R742.1

【參考文獻】

相關(guān)期刊論文 前10條

1 王佩佩;趙玲玲;;輕度胃腸炎伴良性驚厥的研究現(xiàn)狀[J];中國全科醫(yī)學;2016年18期

2 張卉;時偉麗;肖海;吳東;秦利濤;廖世秀;;一個發(fā)作性運動誘發(fā)性肌張力障礙家系的PRRT2基因突變研究[J];中華醫(yī)學遺傳學雜志;2016年01期

3 張遠達;冀超玉;李榮敏;張小龍;張瑜;董青偉;韓立坡;;輕度胃腸炎伴嬰幼兒良性驚厥264例臨床分析[J];臨床兒科雜志;2015年10期

4 王華;;良性家族性嬰兒癲癇分子遺傳學研究與診治[J];中國實用兒科雜志;2015年07期

5 楊小玲;張月華;許小菁;于曉莉;張秀菊;楊志仙;王爽;吳曄;劉曉燕;吳希如;;良性家族性嬰兒癲癇家系臨床表型和PRRT2基因突變分析[J];中華兒科雜志;2014年11期

6 申延豐;安仁哲;;小劑量托吡酯單藥治療嬰兒良性部分性癲癇療效觀察[J];中國實用兒科雜志;2014年06期

7 石凱麗;韓虹;朱鐳;范三麗;;血清一氧化氮及一氧化氮合酶體系與輕度胃腸炎合并嬰幼兒良性驚厥的相關(guān)性研究[J];中國藥物與臨床;2014年03期

8 馬秀偉;侯豫;辜蕊潔;何芳;王三梅;封志純;;良性嬰兒癲癇的臨床及發(fā)作期腦電圖特征[J];中華臨床醫(yī)師雜志(電子版);2013年22期

9 郝云鵬;張月華;楊小玲;許小菁;楊志仙;王爽;劉曉燕;吳希如;;良性嬰兒癲癇49例臨床和腦電圖特點[J];中國實用兒科雜志;2013年05期

10 常琳;王小姍;;中國癲癇流行病學調(diào)查研究進展[J];國際神經(jīng)病學神經(jīng)外科學雜志;2012年02期

相關(guān)博士學位論文 前1條

1 李海燕;新的BFIC致病基因的定位、候選克隆及BFNC的KCNQ3基因突變檢測[D];中南大學;2006年

，

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