儿童热性惊厥临床特征及其变化趋势

目的 探讨热性惊厥(FS)患儿的临床特征及其变化趋势.方法 回顾性总结2004~2013年10年间收治的1 922例FS患儿的临床资料,分析其临床特征及前后5年的变化趋势.结果 1 922例FS患儿中,男女比例为2.27 : 1,平均发病年龄3.0±1.8岁,发病年龄高峰为1~3岁.单纯型1 556例(80.96%),复杂型366例(19.04%).2008~2013年FS患儿1 202例,比2004~2008年(720例)增长了66.9%,且复杂型FS患儿比例升高(21.13% vs 15.56%)(P<0.05).与2004~2008年相比,2009~2013年单纯型FS患儿在惊厥发病年龄、发作时体温、抽搐持续时间及合并症发生率等方面差异均无统计学意义(均P>0.05);而复杂型FS患儿的发病年龄更小,发作时体温更低,抽搐时间更长,且出现心肌损伤、低钠血症等合并症的发生率更高(均P<0.05).结论 10年间FS患儿病例数呈上升趋势,复杂型FS发生率升高,且各临床特征均向不利方向变化,应重视复杂型FS的及时诊断和治疗.     

全面性癫癎伴热性惊厥附加症一家系随访分析

目的　探讨全面性癫伴热性惊厥附加症 (GEFS )的临床意义。方法　回顾性分析GEFS 一家系的临床发作情况 ,作详细的体格检查。进行脑电图、2 4h动态脑电监测 ,部分患者作头颅CT检查。结果　先证者Ⅳ12 ,以抽搐频发 3d入院 ,生后 8个月开始高热惊厥 (FS)。此次发作为无热性频发全面性强直 阵挛发作。该家系 5代共 36人 ,其中有 14名患者 ,男 8例 ,女 6例 ;患者年龄 4岁 5个月～ 82岁 ,除Ⅰ2 发作类型不详外 ,Ⅱ2 、Ⅲ1、Ⅲ4、Ⅲ6、Ⅳ1、Ⅳ11、Ⅳ17为FS ,Ⅳ2 、Ⅳ12 、Ⅳ13 、Ⅳ14 为FS ,Ⅴ1为FS 和失神发作。除Ⅳ13 、Ⅳ14 目前给予丙戊酸镁治疗外 ,其他患者已减量停药或未用药 ,均无发作。全家系成员智能发育、全身及神经系统检查均正常。 3例行头颅CT检查 ,均正常。结论　GEFS 为常染色体显性遗传性疾病 ,具有显著的遗传异质性和表型异质性。认识该综合征对诊断和鉴别诊断儿童时期的癫具有重要的临床意义     

热性惊厥发病机制及干预治疗的研究进展

热性惊厥是一种常见的小儿神经系统惊厥性疾病。临床上分为单纯性热性惊厥及复杂性热性惊厥。目前已在热性惊厥的定义、病因、发病机制、治疗和远期预后等方面进行了广泛而深入的研究,但尚存争议。该文就近年热性惊厥在遗传学、离子通道、免疫学、神经递质机制及治疗、预防对策等方面的研究进展进行综述,旨在提高广大医务人员对该病的正确认识。     

全面性癫痫伴热性惊厥附加症家系的临床分析

目的：探讨全面性癫癎伴热性惊厥附加症（GEFS+）的临床表型及遗传规律。方法：首先对15个GEFS+家系的先证者进行详细的问诊及体格检查,建立完善的家系图谱,部分患者行EEG、头颅CT或MRI检查,按照国际分类法对癫癎发作和癫癎综合征进行分类,然后进行临床分析。结果：15个家系共196名成员,75例患有癫癎,其中64例表型与GEFS+一致（1例去世）,男性38例,女性26例,性别差异无显著性（P>0.05）。发作起始年龄均在儿童期。表现为热性惊厥(FS)者44例,FS伴肌阵挛1例,热性惊厥附加症(FS+)者13例,FS+伴失神发作2例,FS+伴肌阵挛1例,FS+伴局灶性发作3例。结论：GEFS+具有表型异质性和遗传异质性,常见表型为FS和FS+,少见的表型为FS+伴失神发作、FS+伴肌阵挛发作、FS+伴局灶性发作等。GEFS+家系中父母一方患病,男女发病机率均等,符合常染色体显性遗传。［中国当代儿科杂志,2007,9（5）：436-440］     

Prolactin levels in febrile and afebrile seizures

Transient hyperprolactinaemia has been reported to follow unprovoked seizures, a finding proposed to be useful in the differential diagnosis of epilepsy. There is also evidence that patients with unprovoked seizures may have high baseline prolactin levels, which could be of value in detecting those predisposed to epilepsy after a first convulsive attack. The purpose of this study was to examine whether prolactin levels are elevated: (1) postictally in febrile seizures and (2) interictally in afebrile seizures. In 17 children with simple febrile seizures, mean postictal prolactin value (370±160 mU/l, mean±SD) was significantly higher (0.001) than the mean baseline value of 18 seizure-free controls (202±136 mU/l). The mean baseline prolactin values were not significantly different: (1) in ten children with afebrile versus ten seizure-free controls and (2) in 18 children with febrile seizures associated with high risk for subsequent afebrile seizures versus 23 children with febrile seizures but unlikely to suffer from afebrile seizures.Conclusion Postictal prolactin levels may be a useful marker of recent febrile seizures, while baseline prolactin levels do not appear to have any prognostic significance in afebrile seizures.     

Circadian and seasonal variation of first febrile seizures

Time of occurrence of 188 first febrile seizures (FS) was recorded, both by four 6-hour periods and by hourly intervals. The frequency of events was significantly ( P < .001) increased from 6 to 11.59 pm with a peak between 5 and 8 pm . A seasonal peak was observed in January.     

616例小儿热性惊厥首次发作的临床特点及危险因素分析

目的了解热性惊厥患儿首次发作的临床特点及危险因素,指导临床医师对有危险因素的患儿采取相应干预措施,降低热性惊厥的发生。方法选取我院2016年8月至2018年8月收治的616例首次热性惊厥患儿为研究对象,回顾性分析患儿的临床特征及首次发作危险因素,并随机抽取同期发热但无惊厥发作(既往也无惊厥病史)的601例患儿为对照组。结果616例热性惊厥患儿,男344例,女272例,汉族584例,蒙古族32例。1岁以下126例(20.5%),~3岁405例(65.8%),3岁以上85例(13.7%)。发作病因中以急性上呼吸道感染[53.6%(330/616)]、疱疹性咽峡炎[25.9%(160/616)]及幼儿急疹[10.5%(65/616)]居前3位。惊厥发作时体温在38.0℃及以上者570例(92.5%),16例(2.6%)患儿惊厥发作后出现发热。534例(86.7%)患儿在发热24 h内出现惊厥发作。608例(98.7%)患儿表现为全面强直阵挛性发作。惊厥持续时间<5 min 548例(89.0%)、~14 min 48例(7.8%)、~29 min 16例(2.6%)及≥30 min 4例(0.4%)。572例(92.9%)患儿在单次热程中仅1次惊厥发作。临床类型中单纯性热性惊厥占88.3%(544/616),复杂性热性惊厥占11.0%(68/616),惊厥持续状态占0.7%(4/616)。危险因素分析显示首次惊厥时年龄、低钠、低铁、低锌、剖宫产、异常出生史、抽搐前1周疫苗接种史及热性惊厥家族史在热性惊厥组和对照组中差异有统计学意义(P<0.05)。Logistic回归分析发现首次发热惊厥年龄、低铁、剖宫产、低钠及热性惊厥家族史是热性惊厥首次发作的独立危险因素(P<0.05)。结论热性惊厥首次发作多见于3岁以内婴幼儿,以单纯性热性惊厥为主,惊厥发作时体温高,易发生于发热后24 h内,病毒感染是最常见病因。引起热性惊厥首次发作的危险因素依次为首次发作年龄、低铁、剖宫产、低钠及热性惊厥家族史,针对危险因素采取相应的干预措施可降低热性惊厥的发生。     

咪达唑仑鼻腔给药治疗热性惊厥的临床研究

目的 探讨咪达唑仑溶液鼻腔给药对热性惊厥急救的的有效性及安全性.方法 对我院就诊36例热性惊厥儿童随机分成两组,研究组给予咪达唑仑0.2～0.3 mg/kg鼻腔内滴入,以安定0.2～0.3 mg/kg静脉注射给药为对照给,观察开始治疗时间、用药后控制发作时间、自患儿到达医院至发作控制的总时间、在控制惊厥方面的疗效及不良反应等指标.结果 在控制惊厥效果鼻腔内滴入咪达唑仑与静脉注射安定相同.在入院至开始治疗时间鼻腔内滴入咪达唑仑组为[(35.8±4.3)s],明显低于静脉注射安定组[(82.2±16.5)s],差异有显著性(P<0.05);用药控制时间鼻腔内滴入咪达唑仑组为[(162.4±15.6)s],与静脉注射安定组[(164.7±16.8)s]相比,差异无显著性;从入院至控制惊厥总时间上,鼻腔内滴入咪达唑仑组为[(209.2±26.1)s],明显低于静脉注射安定组[(339.6±42.4)s],差异有显著性(P<0.05).两组通过监测心率、呼吸、血压均未发现任何不良反应.结论 咪达唑仑溶液鼻腔给药使用方便,是一种安全、更为快速、有效的治疗热性惊厥的方法.     

SCNlA基因rs3812718多态性与全面性癫癎伴热性惊厥附加症的关系

目的 探讨SCNlA基因rs3812718基因多态性与全面性癫癎伴热性惊厥附加症（GEFS+）的相关性,以期为GEFS+的诊治提供潜在的分子靶点。方法 采用MassARRAY阵列基因分析系统的iPLEX技术检测50例GEFS+患者和50例健康对照的SCNlA基因rs3812718位点多态性、基因型频率、等位基因频率。结果 将SCN1A基因rs3812718位点的CC、CT、TT基因型频率在GEFS+组和对照组进行比较,TT基因型频率的差异有统计学意义;等位基因T的频率在GEFS+组和对照组间的差异有统计学意义（P < 0.05）。在三种遗传模式下（CT/CC、TT/CC、T/C）,GEFS+的发病风险分别是对照组的4.05倍（95% CI：1.04~15.69）、30.60倍（95% CI：6.46~144.85）和4.64倍（95% CI：2.54~8.48）。结论 SCNlA基因rs3812718基因多态性是GEFS+的危险因素,携带T等位基因人群的GEFS+发病风险可能增加。     

Theophylline-associated seizures and their clinical characterizations

BACKGROUND: To elucidate the basic mechanism of theophylline-associated seizures (TAS), the clinical symptoms, electroencephalogram (EEG) and neuroradiological imaging of eight pediatric patients were all retrospectively evaluated. METHODS: Patients whose seizures represented their first episode were selected, while patients with cerebrospinal fluid abnormalities including pleocytosis and protein elevation, present illness of head trauma, epilepsy, febrile convulsion or any psychomotor retardation were excluded although they were given theophylline. RESULTS: Eight patients, 3.5 +/- 1.7 years of age, thus fulfilled the definition of TAS in the past 5 years. Based on their seizure patterns, EEG findings, brain single-photon emission computed tomography and head magnetic resonance imaging, a total of seven of eight patients had either localized or unilateral dominant lesions. They all had fever, > or =38 degrees C, and six of eight patients had a family history of febrile convulsions and/or idiopathic epilepsy. Thereafter none of them had convulsions after the cessation of theophylline administration. Through the TAS event, a 6-year-old female patient was found to have a right deep lateral cerebral venous angioma. CONCLUSION: In infants with idiopathic low seizure threshold and fever, theophylline administration might possibly trigger a seizure. Moreover, based on these patients' clinical findings, some kind of cerebral vascular involvements is speculated to be related with TAS.     

Frequent fever episodes and the risk of febrile seizures: The Generation R Study

Aim

To examine the association between the number of fever episodes and the risk of febrile seizures.

Methods

This study was embedded in a population-based prospective cohort study from early foetal life onwards. Information about the occurrence of febrile seizures and fever episodes was collected by questionnaires at the ages of 12, 24 and 36 months. Analyses were based on 3033 subjects. The risk of febrile seizures was compared between children with frequent fever episodes (>2 per year), and children with only 1 or 2 fever episodes per year.

Results

The frequency of fever episodes was not associated with the risk of febrile seizures in the age range of 6-12 months. In the second and third year of life, having more than 2 fever episodes was associated with an increased risk of febrile seizures (odds ratios 2.02 [95% confidence interval 1.13-3.62] and 2.29 [95% confidence interval 1.00-5.24], respectively). In the age range between 6 and 36 months, we observed a significant trend between the frequency of fever episodes (<2, 3-4 or >4 per year) and the risk of febrile seizures (p-value for trend < 0.001). The association between the number of fever episodes and the occurrence of febrile seizures was stronger for children with recurrent febrile seizures.

Conclusion

Frequent fever episodes are associated with an increased risk of febrile seizures in the second and third years of life. Further studies are needed to identify the mechanisms underlying this association.     

纳洛酮对反复高热惊厥后神经细胞凋亡的影响

目的　探讨不同用药时间的纳洛酮对反复高热惊厥后神经细胞凋亡的影响。方法　利用热水浴惊厥模型隔日诱导 70只生后 15dSD大鼠发生 7次热惊厥 ,期间治疗组大鼠每次惊厥发作后分别于 5、30、6 0min ,2h腹腔注射 1mg/kg纳洛酮 ,而惊厥对照组大鼠上述时点腹腔注射等量生理盐水。末次惊厥后 2 4h处死大鼠 ,采用原位末端脱氧核苷酸生物素标记 (TUNEL)法分别测定大鼠海马结构及大脑皮层神经元凋亡情况 ;并应用透射电镜观察凋亡细胞超微形态学改变。结果　与惊厥对照组比较 ,大鼠热惊厥后 5、30、6 0min应用纳洛酮均可明显减少神经细胞凋亡 (P <0 .0 1) ;而惊厥后 2h给药 ,神经细胞凋亡率差异无显著性 (P >0 .0 5 )。惊厥后不同时间给药组间比较 ,发现TUNEL阳性细胞数有显著差异 (P <0 .0 5 ) ,提示纳洛酮愈早应用 ,凋亡发生愈少。结论　早期应用纳洛酮可明显减少高热惊厥脑损伤后神经细胞凋亡 ,从而有效地保护神经细胞     

Antipyretic effectiveness of acetaminophen in febrile seizures: Ongoing prophylaxis versus sporadic usage

A controlled clinical study compared the antipyretic effectiveness of acetaminophen administered at regular 4 h intervals (group 1,n=53) versus sproadic usage contingent upon a body temperature above 37.9°C (group 2,n=51) in 104 children presenting with simple febrile convulsions. The incidence of febrile episodes or temperature values were similar in spite of significantly larger amounts of acetaminophen administered to patients in group 1. Four and 4 children in groups 1 and 2, respectively, had a second episode of febrile seizures, in all of them within the first 24 h of admission. We conclude that the prophylactic administration of acetaminophen in children with febrile seizures is not effective in the prevention of fever, the reduction of its degree, or in preventing the early recurrence of febrile seizures.     

Prediction of febrile seizures in siblings: a practical approach

To quantify the risk of febrile seizures (FS) in relatives of children with FS and to predict the risk of FS in siblings, we calculated cumulative risks of FS in first degree relatives of 129 children with FS. The study was conducted as a prospective follow up study of FS recurrences at the outpatient clinic of the Sophia Children's Hospital in Rotterdam. Thirteen parents and 12 siblings had experienced FS, accounting for a 6-year cumulative risk of 7%. The risk of FS was increased in relatives of children with recurrent FS (12%). The risk of FS in siblings (10%) in our study was more than twice the average risk in a similar population (4%). A positive FS history in a parent, young age at onset in the proband, and recurrences in the proband were selected in a multivariable prediction model. If two or more of these risk factors were present, the risk of West European siblings to develop FS was 46% (hazard ratio 5.4). Conclusion The cumulative risk of FS in siblings of children with FS is increased. The age attained risk of FS can be estimated using a practical model incorporating three readily available risk factors. Received: 12 September 1996 and in revised form 19 August 1997 / Accepted: 5 September 1997     

Meropenem in the treatment of febrile neutropenic children

The aim of this retrospective study was to evaluate the clinical effectiveness of meropenem in immunocompromised children. Between January 1998 and December 2002 in the hemato-oncological units of our hospital meropenem was used in 87 febrile events diagnosed in 55 patients, and 328 bacterial cultures were evaluated. Microorganisms were detected and identified in 64 of the 328 hemocultures; there was a predominance of gram-positive strains (67%). In 49.4% the infection was documented microbiologically. In 16 additional cases the infection was proven clinically and 32.2% of the episodes were considered to be fever of unknown origin. The success rate of the meropenem therapy—excluding the proven fungal or coagulase-negative Staphylococcus infections—was 72.9% and for the whole cohort 49.4%. The results demonstrate that meropenem is effective and well-tolerated when used for the treatment of neutropenic cancer children.     

KCNT2基因变异致遗传性癫痫伴热性惊厥附加症一家系分析并文献复习

目的:总结 KCNT2基因突变所致遗传性癫痫伴热性惊厥附加症(GEFS ＋)一家系的临床特点及治疗情况,并进行文献复习。 方法:收集2019年5月在广州市妇女儿童医疗中心神经内科就诊的GEFS ＋患儿及其家族成员的临床资料;提取患儿及其父母、哥哥、外祖父母的外周血DNA,采...