Girl with a PRRT2 mutation and infantile focal epilepsy with bilateral spikes

This paper documents the case of a female Japanese patient with infantile focal epilepsy, which was different from benign infantile seizures, and a family history of infantile convulsion and paroxysmal choreoathetosis. The patient developed partial seizures (e.g., psychomotor arrest) at age 14 months. At the time of onset, interictal electroencephalography (EEG) showed bilateral parietotemporal spikes, but the results of neurologic examination and brain magnetic resonance imaging were normal. Her seizures were well controlled with carbamazepine, and she had a normal developmental outcome. EEG abnormalities, however, persisted for more than 6 years, and the spikes moved transiently to the occipital area and began to resemble the rolandic spikes recognized in benign childhood epilepsy. Her father had paroxysmal kinesigenic dyskinesia, with an onset age of 6 years, and her youngest sister had typical benign infantile seizures. Genetic analysis demonstrated that all affected members had a heterozygous mutation of c.649_650insC in the proline-rich transmembrane protein-2 (PRRT2) gene. This case indicates that the phenotypic spectrum of infantile seizures or epilepsy with PRRT2-related pathology may be larger than previously expected, and that genetic investigation of the effect of PRRT2 mutations on idiopathic seizures or epilepsy in childhood may help elucidate the pathological backgrounds of benign childhood epilepsy.     

复方小儿退热栓治疗小儿高热惊厥56例疗效及安全性观察

目的观察复方小儿退热栓治疗小儿高热惊厥的疗效及安全性。方法将112例患儿随机均分为2组,对照组予镇静、抗感染等对症处理,观察组在对照组基础上加用复方小儿退热栓治疗。结果对照组患儿治疗前平均惊厥次数为（4.3±1.8）次,治疗5 min后为（2.8±2.3）次（P〈0.05）。观察组患儿治疗前平均惊厥次数为（4.2±2.0）次,治疗后5 min后为（1.1±2.1）次（P〈0.05）,且治疗5 min后平均惊厥次数较对照组明显减少（P〈0.05）。与对照组相比,观察组患儿惊厥症状好转迅速,症状改善明显,患儿体温下降幅度超过1℃及住院治疗时间均明显缩短（P〈0.05）。观察组患儿治疗显效率和总有效率明显高于对照组患儿（P〈0.05）。两组患儿治疗过程中不良反应发生率比较未见明显差异（P〉0.05）。结论联合复方小儿退热栓治疗小儿高热惊厥的疗效确切、稳定、安全,值得临床推广。     

贫血与热性惊厥的相关性研究

目的:分析贫血与热性惊厥的相关性。方法:采用前瞻性研究,连续纳入2018年10月至2019年4月就诊于武汉大学人民医院东院儿科的发热患儿,伴有惊厥的纳入惊厥组,不伴有惊厥的纳入对照组。收集对照组和惊厥组患儿的临床资料如姓名、性别、年龄、发热的病因、热性惊厥的家族史、惊厥发作的类型、红细胞(RBC)、血红蛋白(Hb)、红细胞压积(HCT)、平均红细胞体积(MCV)、平均红细胞血红蛋白量(MCH)、平均血红蛋白浓度(MCHC)等;比较2组发热原因、阳性家族史及贫血情况。根据惊厥发作的类型、持续时间和惊厥发作的次数,进一步将惊厥组分为单纯性热性惊厥组和复杂性热性惊厥组,比较2组的阳性家族史。结果:本研究共纳入294例发热患儿,其中惊厥组154例(52.4%),对照组140例(47.6%)。2组性别、年龄、发热病因差异无统计学意义(P0.05)。导致发热最常见的疾病为急性上呼吸道感染(63.3%)。惊厥组中家族史阳性者33例(21.4%),对照组5例(3.6%),差异具有统计学意义(P=0.000)。惊厥组中单纯性热性惊厥组121例(78.6%),家族史阳性7例(5.8%);复杂性热性惊厥组33例(21.4%),家族史阳性26例(78.8%),差异有统计学意义(P=0.000)。惊厥组的贫血发生率低于对照组(P=0.010),Hb、HCT、MCV、MCHC均高于对照组(均P0.05);2组的贫血年龄分布均多见于12～36月龄,差异无统计学意义(P=0.212)。结论:发热伴惊厥患儿中贫血的发生率低于发热不伴惊厥的患儿,且为小细胞低色素贫血。     

优质护理干预对高热惊厥患儿预后的影响

目的分析优质护理干预对高热惊厥患儿预后的影响。方法选取我院收治的84例高热惊厥患儿作为研究对象,采用随机数字表法将其分为对照组(42例,常规护理)与观察组(42例,优质护理)。比较两组的临床相关指标、并发症发生情况及护理满意度。结果观察组患儿护理30 min后的体温低于对照组,惊厥消失时间及住院时间均短于对照组(P<0.05)。观察组患儿的并发症总发生率低于对照组(P<0.05)。观察组患儿家属的护理满意度高于对照组(P<0.05)。结论优质护理干预用于高热惊厥患儿,护理可有效缩短其惊厥消失时间,降低并发症发生率,改善预后,提升护理满意度。     

持续惊厥后海马神经营养因子表达及其影响因素

目的 观察持续惊厥(status convulsion, SC)发作后海马神经细胞内BDNF、NGF表达的规律,探讨年龄、惊厥持续时间对BDNF、NGF表达的影响.方法 选用幼年和成年Wistar鼠诱发SC,分别于30 min SC及3 hSC后不同时间点处死实验动物.采用免疫组化观察海马表达BDNF、NGF的细胞类型与定位,并应用酶联免疫吸附实验对海马BDNF、NGF含量进行定量分析.结果 ①Wistar 鼠BDNF、NGF主要分布于齿状回颗粒细胞和锥体细胞.②SC后,幼年和成年鼠海马BDNF、NGF的表达均呈增加趋势.但NGF增加的水平和持续时间均较BDNF明显为低,呈现双相升高的特点.③海马BDNF的表达与惊厥时程呈正相关性;而NGF表达却并未随惊厥时间的延长而增加.④无论是短时或长程的SC发作,幼鼠海马内BDNF的表达速度和强度均快于、强于成年鼠;且随惊厥发作持续时间的延长,此种年龄差异性更为明显.结论 ①SC主要诱发大鼠海马神经细胞BDNF表达,对NGF表达的影响较小.②SC后大鼠海马神经细胞BDNF的表达受惊厥持续时间和年龄的影响.幼年鼠的表达速度和强度均优于成年鼠,其差异与惊厥持续时间呈正相关(P＜0.05).     

Comparison between febrile and afebrile seizures associated with mild rotavirus gastroenteritis

PurposeWe aimed on identifying the differences of febrile and afebrile seizures associated with mild rotavirus gastroenteritis (RVGE) in the pediatric population.MethodMedical charts of pediatric patients who had been admitted between July 1999 and June 2011 due to RVGE were retrospectively reviewed. Subjects were ultimately divided into three groups; ‘no seizure’ (NS: patients without seizure), ‘febrile seizure’ (FS: patients with fever during seizure), ‘afebrile seizure’ (AFS: patients without fever during seizure). Comparisons between groups were carried out on demographic and clinical characteristics, laboratory test results, electroencephalogram findings, brain magnetic resonance imaging findings, antiepileptic treatment, and prognosis.ResultsAmong the 755 subjects who had been admitted due to mild rotavirus enteritis, 696 (90.3%) did not have any seizures, 17 (2.2%) had febrile seizures, 42 (5.5%) had afebrile seizures. The duration of gastrointestinal symptoms before the onset of seizures were significantly shorter in the FS group compared to the AFS group (1.3 ± 0.8 vs. 2.8 ± 1.0 days; p < 0.0001). A single seizure attack was significantly higher in the AFS group (3.0 ± 1.6 vs. 1.7 ± 1.0 episodes; p = 0.0003), and the frequency of seizures that were of focal type with or without secondary generalization were significantly higher in the AFS group (33.3% vs. 6.0%; p = 0.0139). All patients among the FS and AFS group had not received further antiepileptic treatment after discharge, and none developed epilepsy during follow up period.ConclusionDespite some differences in seizure characteristics, both febrile and afebrile seizures associated with mild RVGE were mostly benign with a favorable prognosis.     

氯胺酮的抗惊厥作用及对兔呼吸、血压的影响

目的观察氯胺酮在治疗士的宁惊厥时对兔呼吸、循环的影响。方法健康成年家兔50只,雌雄不拘,随机分成K1.25、K2.5、K5.0、NS和PB5.0组,每组10只。清醒状态局部麻醉作用下行股动脉插管、剑突穿线,测定兔股动脉血压和呼吸频率。兔耳缘静脉注射士的宁0.25 mg/kg制作惊厥模型,强直惊厥出现后立即静脉注射治疗药物。观察各组兔的死亡数、强直持续时间、呼吸频率和股动脉血压情况。结果氯胺酮大、中、小3个剂量组与NS组和PB5.0组相比,兔强直持续期明显缩短（P〈0.01）,且呈剂量依赖性（r=-0.8696,P〈0.05）。K2.5、K5.0和PB5.0组死亡均为零。氯胺酮各剂量组呼吸频率在注药后2-5 min内比基础值提高（P〈0.01）。氯胺酮各剂量组股动脉血压在注药后2、5 min时高于PB5.0组（P〈0.05）,在5、10 min时高于NS组（P〈0.05）。结论氯胺酮能对抗士的宁诱发的惊厥,明显改善惊厥兔的呼吸、循环。     

Serum sodium levels and probability of recurrent febrile convulsions

In a prospective study of 69 children with febrile convulsions, serum sodium levels were often lower than normal (52% had levels <135 mmol/l). The mean level (134.4±0.4 mmol/l) was significantly lower as compared to a group of children without fever (140.6±0.4 mmol/l,n=23) and as compared to a group with fever but without convulsions (137.6±0.6 mmol/l,n=31). The probability of a repeat convulsion within the same febrile period appeared to be significantly related to the serum sodium level.Conclusion Measurement of the serum sodium is a valuable investigation in the child with a febrile convulsion. The lower the serum sodium level, the higher the probability of a repeat convulsion. This knowledge may be of practical value in deciding whether to admit the child or allow it to return home and in advising parents or carers of the risk of a repeat convulsion.     

安定溶液舌下给药治疗小儿惊厥疗效观察

目的探讨安定溶液舌下给药治疗小儿惊厥的临床疗效及安全性。方法选择惊厥患儿92例,随机分为治疗组46例,舌下给药0.5mg/kg;对照组46例,直肠给药0.5mg/kg。比较两组控制惊厥显效率和总有效率及控制惊厥平均起效时间。同时观察治疗组的不良反应。结果治疗组显效率高于对照组(χ2=7.38,P=0.012),总有效率与对照组差异无统计学意义(χ2=0.548,P=0.714);治疗组平均起效时间较对照组短(t=5.42,P=0.000);治疗组除止惊后嗜睡、乏力外未见其它不良反应。结论舌下给药临床应用安全方便,止惊快速有效,值得临床推广。