ObjectiveTo study the clinical features of children with seizures as core symptoms of neuronal surface antibody syndromes. MethodsThe clinical data of neuronal surface antibody syndromes between December 2015 and December 2016 were obtained and analyzed. All children presented to hospital with seizures as core symptoms. ResultsThere were 1 male and 9 females in this study. The ages ranged from 3 years to 13 years. The disease course was between 3 and 14 days. All children presented to hospital with seizures as core symptoms.Two children had tonic seizures. one had tonic-clonic seizure. Seven had partial seizures. Among them, six children had status epilepticus and cluster attack. The other symptoms in the course of the disease were psychiatric symptoms and extrapyramidal symptoms.The anti-NMDAR antibody were found in 9 patients' CSF and blood. The LGI1 antibody was found in one patients' CSF and blood.The EEG test of 7 patients showed slow wave and sharp slow wave. Two showed spike wave. One showed slow wave.The MRI test of one patient showed abnormal. Ten cases were treated with IVIG and methylprednisolone during acute stage. The patients had been followed up for 3 to 6 months. Eight of them recovered completely. Two cases had seizures. Two cases diagnosed with anti-NMDAR related epilepsy received sound effects after treated with cyclophosphamide. ConclusionsConvulsion may be the first common symptom of neuronal surface antibody syndromes in children. Immune factors should be screened when children with acute seizures and status epilepticus. Accompanying psychiatric symptoms, autoimmune epilepsy should be considered. The most common neuronal surface antibody in children with neuronal surface antibody syndromes is NMDAR antibody. EEG usually shows slow wave and sharp slow wave during seizures. Brain MRI is usually normal. Immunotherapy is effective in the majority of patients as the first line treatment. When the first-line treatment failed, second-line immunotherapy such as cyclophosphamide shock therapy on a regular basis is helpful.
目的 研究利多卡因对海马的神经毒性是否会对大鼠空间学习记忆能力产生影响，并探讨大鼠空间学习能力的变化与海马CA3区锥体细胞数目的相关性。 方法 将成年Wistar雄性大鼠随机分为基础值组（n=7）和利多卡因惊厥组（n=40）。基础值组大鼠静脉给予生理盐水后使用Y迷宫测定大鼠的空间学习能力。利多卡因惊厥组大鼠尾静脉持续输注利多卡因造成惊厥，待大鼠恢复正常运动以后放入鼠笼重新饲养。并于惊厥后第1、3、5、7天从中随机抓取大鼠测试其空间学习能力以及组织学改变。根据对应天数将利多卡因惊厥组的40只大鼠随机细分为Day-1、Day-3、Day-5、Day-7亚组，每亚组10只。所有大鼠在测定空间学习能力之后立即处死，取出大脑并做石蜡包埋，冠状面切片后进行组织学检测，显微镜下评估海马CA3区锥体细胞状态。 结果 ① 基础值组和Day-1、Day-3、Day-5、Day-7亚组大鼠的Y迷宫穿梭次数分别为（25.2 ± 3.7）、（27.1 ± 8.1）、（36.9 ± 9.9）、（38.7 ± 10.6）、（40.6 ± 16.3）次，除Day-1亚组与基础值组比较差异无统计学意义（P＞0.05）外，其余各亚组与基础值组差异均有统计学意义（P＜0.05）；② 与基础值组单位面积（10.3 ± 4.5）个（异常锥体）细胞比较，利多卡因惊厥组大鼠海马CA3区异常锥体细胞数增加，Day-1、Day-3、Day-5、Day-7亚组计数值分别为13.0 ± 7.2、15.6 ± 5.0、19.6 ± 8.1、18.1 ± 5.1，且与大鼠Y迷宫穿梭次数呈正相关（r=0.711，P＜0.05）。 结论 利多卡因引起的惊厥使成年大鼠海马依赖性空间学习能力下降，利多卡因的神经毒性引起的海马异常锥体细胞增多可能是造成这一现象的一种原因。
目的 探讨热性惊厥患儿血清电解质和血糖的变化及其临床意义。 方法 选取2009 年6月－2010 年12月儿科住院的呼吸道感染并发热性惊厥患儿38例和呼吸道感染无惊厥患儿42例，分别作为观察组和对照组，测定和比较两组患儿血清电解质和血糖值。 结果 观察组血清钠离子浓度为（133.05 ± 1.74）mmol/L、氯离子浓度为（100.37 ± 1.79）mmol/L；对照组血清钠离子浓度为（142.19 ± 1.85）mmol/L、氯离子浓度为（104.57 ± 1.55）mmol/L，差异均有统计学意义（P＜0.01）；观察组和对照组血糖浓度依次为（6.93 ± 0.87）、（5.12 ± 0.55）mmol/L，差异有统计学意义（P＜0.01）。观察组在治疗后的血清钠离子、氯离子浓度分别为（140.89 ± 2.68）、（103.29 ± 1.94）mmol/L，均高于发生惊厥时的浓度（P＜0.01）；观察组在治疗后的血糖浓度为（5.31 ± 0.68）mmol/L，明显低于发生惊厥时，差异有统计学意义（P＜0.01）。 结论 婴幼儿发生热性惊厥时存在血钠、血氯水平降低和血糖升高，在热性惊厥患儿的治疗中应纠正血钠水平和高血糖。Objective To explore the clinical significance of the changes in serum electrolytes and blood glucose in the children with febrile convulsion. Methods Thirty-eight children with respiratory infection combined with febrile convulsion and 42 children with single respiratory infection diagnosed between June 2009 and December 2010 were selected as the observation group and control group, respectively. Serum electrolytes and blood glucose concentration were assayed and compared between the two groups. Results The concentrations of serum sodium and chloride were (133.05 ± 1.74) mmol/L and (100.37 ± 1.79) mmol/L in the observation group, while (142.19 ± 1.85) and (104.57 ± 1.55) mmol/L in the control group; the differences between the two groups were significant (Plt;0.01). The concentrations of blood glucose were (6.93 ± 0.87) mmol/L in the observation group and (5.12 ± 0.55)mmol/L in the control group; the difference was significant (Plt;0.01). After the treatment, the serum concentrations of sodium and chloride were (140.89 ± 2.68) and (103.29 ± 1.94)mmol/L in the observation group, which were higher than those before treatment (Plt;0.01). After treatment, the blood glucose concentration was (5.31 ± 0.68）mmol/L in the observation group, which was lower than that before the treatment (Plt;0.01). Conclusion Hyponatremia, low serum chlorine and hyperglycemia occurre in the febrile convulsion in children, which should be corrected in the treatment of febrile convulsion.
According to their seizure patterns and EEG findings, status epilepticus can be divided into convulsive status epilepticus (CSE) and nonconvulsive status epilepticus (NCSE). Patients with NCSE have well-established EEG abnormalities without typical convulsive convulsions and only altered mental status or mild motor symptoms. Due to its atypical clinical symptoms, NCSE is prone to delayed diagnosis, misdiagnosis, or missed diagnosis, resulting in irreversible brain tissue damage, severe impairment of consciousness, function, and behavior, and even death in NCSE patients. It is of great significance to actively prevent seizures, identify symptoms early, and standardize treatment to improve the prognosis of NCSE patients. At present, there is no relevant standard and consensus on NCSE diagnosis and care. Here, we reported a patient with NCSE who admitted to the Epilepsy Center of Beijing Tiantan Hospital on June 21, 2024. After precise treatment and nursing, the patient's symptoms were well controlled, his condition was stable, and he was followed up for 1 month after discharge, and the prognosis was good. This case report aimed to provide some clinical suggestions to related disease.
Genetic epilepsy with febrile seizures plus (GEFS+) is a new type of genetic epilepsy syndrome with a marked hereditary tendency. Febrile seizure is the most common clinical symptom, followed by febrile seizure plus, and with/without absence seizures, focal seizures, and generalized tonic-clonic seizures. Results of the polymerase chain reaction (PCR), exon sequencing and single nucleotide polymorphism (SNP) analysis showed that the occurrence of GEFS+ is mainly related to the mutation of gamma aminobutyric acid type A receptor gamma 2 subunit (GABRG2), but its pathogenesis was still unclear. The main types of GABRG2 mutations include missense mutation, nonsense mutation, frameshift mutation, point mutation and splice site mutation. All these types of mutations can reduce the function of ion channels on cell membrane, but the degree and mechanism of dysfunction are different, which may be the main mechanism of epilepsy. This article will focus on the relationship between GEFS+ and the mutation types of GABRG2 in recent years, which is of great significance for clinical accurate diagnosis, anti-epileptic treatment strategy and new drug development.
Objective To explore the clinical efficacy of levetiracetam (LEV) in preventing recurrence of complex febrile seizures. Methods 100 children with complex febrile seizures who visited Wuxi Children's Hospital from January 2017 to January 2020 were randomly divided into two groups, observation group (n=50, treated with oral LEV), including 28 males and 22 females, with an average age of (1.57±0.42) years; control group (n=50, treated with oral diazepam), including 26 males and 24 females, with an average age of (1.58±0.39) years. The incidence of adverse reactions, the recurrence rate, EEG changes and neural development after the treatment in both groups were observed. Results After treatment, the incidence of adverse reactions in the observation group was 4.00%, which was significantly lower (P<0.05) than that in the control group (18%). The recurrence rate of the observation group was 2.00%, which was significantly lower (P<0.05) than that in the control group (14%). The incidence of abnormal EEG in the two groups after treatment was lower than that before treatment (P<0.05), but there was no significant difference between the two groups (P>0.05). The results of neurodevelopmental assessment in both two groups were in the normal range before and after treatment, and there was no significant change (P>0.05). Conclusions LEV is effective in the treatment and prevention of complex febrile seizures recurrence, with high safety, less adverse reactions and improved prognosis.
ObjectiveTo report the clinical manifestations and genetic characteristics of a child with epilepsy caused by a de novo mutation in the HCN1 gene. MethodsThe clinical data and HCN1 gene mutation characteristics of a child with epilepsy admitted to our hospital in May 2020 were analyzed, and the relevant domestic and foreign literature were reviewed. ResultsA 7-month-old male child developed epileptic seizures for the first time, with various forms of seizures, beginning with atonic seizures, followed by febrile seizures, focal seizures, generalized tonic-clonic seizures, and absence seizures. During hospitalization, his cerebrospinal fluid (CSF), hematuria tandem mass spectrometry (HVMS), cranial imaging and other examinations showed no obvious abnormality. The results of genetic testing showed that there was a heterozygous missense mutation c.839A>C (p.Gln280Pro) in the second exon region of the HCN1 gene of the child, and neither of his parents carried the mutation, suggesting that the mutation is novel. According to the guidelines of America Society of Medical Genetics and Genomics (ACMG), the variation was rated as likely pathogenic. The child was diagnosed with HCN1 gene mutation-related epilepsy and was treated with a combination of levetiracetam and sodium valproate. The child’s epilepsy was well controlled and discharged when his condition was stable. Following up to now after discharge, the patient is prone to convulsions during the course of febrile disease, but his growth and development level is normal. Literature review shows that HCN1 gene mutation-related epilepsy is mainly de novo in patients, most of which are located in the 2nd and 4th exon regions. ConclusionsFor children with clinically unexplained early-onset epilepsy, gene sequencing should be performed as soon as possible to analyze possible genetic etiology, which will help confirm the diagnosis and guide treatment.