Febrile seizures (FS) are one of the most common neurological disorders in pediatrics, commonly seen in children from three months to five years of age. Most children with FS have a good prognosis, but some febrile convulsions progress to refractory epilepsy (RE). Epilepsy is a common chronic neurological disorder , and refractory epilepsy accounts for approximately one-third of epilepsies. The etiology of refractory epilepsy is currently complex and diverse, and its mechanisms are not fully understood. There are many pathophysiological changes that occur after febrile convulsions, such as inflammatory responses, changes in the blood-brain barrier, and oxidative stress, which can subsequently potentially lead to refractory epilepsy, and inflammation is always in tandem with all physiological changes as the main response. This article focuses on the pathogenesis of refractory epilepsy resulting from post-febrile convulsions.
Objective Using cortex convulsions threshold detector and electrical stimulation in rats cortex convulsions threshold model, compare the efficacy and aging of domestic lamotrigine (LTG) and imported LTG. Methods Electrical stimulation convulsions threshold model in rats after stability, 40 rats were randomly divided into A、B、C、D groups,AandBgroup were divided into three different dose groups: domestic LTG low dose (12.5 mg/kg/d), middle dose (25 mg/kg·d), high dose group (37.5 mg/kg·d); imported LTG low doses (12.5 mg/kg·d), middle dose (25 mg/kg·d), high dose group (37.5 mg/kg·d); Carbamazepine middle dose group (72 mg/kg·d); the control group (normal saline 2 ml/time). Recording electrical stimulation in rats cortex convulsions threshold model after administration, compare the differences before and after the administration. Results Three different dose groups of domestic LTG and imported LTG all hadahigher level of electrical stimulation cortex convulsions threshold, and showedadose-response relationship. Onset time of LTG after administration was 1 to 2 hours, peak time was 3 to 4 hours, maintaining time was 8 to 10 hours. Conclusion LTG can improve cortex convulsions threshold in the electrical stimulated rats, there was no significant difference with carbamazepine, and showedadose-response relationship; Repeat dosing for 4 days, both domestic and imported LIG can maintain effective anticonvulsive effect, the efficacy and the aging of two groups of LTG have no significant difference (P＞0.05).
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.
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.
ObjectiveTo study the clinical and EEG features, therapeutic response and prognosis of eyelid myoclonia-nonconvulsive status epilepticus (EM-NCSE) in children.MethodsCollected the clinical and EEG data of 3 children with EM-NCSE that were diagnosed in department of neurology in Qilu Children Hospital of Shandong university during the January in 2015 to August in 2016.Analysed the therapeutic response to antiepletic drugs(AEDs).ResultsAmong the three children, there were 2 girls and 1 boy.The age at the onset of the disease was from 6 to 10 years old.The average age of them is 8.67 years old.The clinical manifestations include mental confusion, dysphoria, winking and scrolling up the eyes.The typical vedio electroencephalography (VEEG) in the patients showed 3~6 Hz generalized spike and waves and polyspikes burst, especially in the frontal and the anterior temporal region.In addition, the eye closure and intermittent photic stimulation helped to induce discharges and clinical events as eyelid myoclonia (EM).ConclusionsEM-NCSE is one of the idiopathic and generalized epileptic disease and characterized by EM.Video EEG monitoring plays an important role in the diagnosis of this disease.The drugs of choice for treatment was diazepam.When the event was controlled, AEDs were effective for the following therapy.
ObjectiveUsing Quality in prognosis studies (QUIPS) analysis, this paper systematically reviewed the factors influencing the poor outcome of children with convulsive status epilepticus (CSE).MethodsTo longitudinal cohort studies on the prognostic evaluation of CSE mortality and mobidity in children.The retrieval time was from January 2008 to November 2019, and three system reviewers PUBMED, EMBASE, COCHRANE and other databases were used to search for literatures related carried out literature extraction and quality evaluation. According to the QUIPS analysis method, the included literatures were scored, the quality grade was divided, and the analysis variables of medium/high quality literatures with statistical significance were selected to draw a conclusion.ResultsQUIPS analysis was used to assess the literature quality, 17 medium/high quality literatures were included, and the factors with statistical significance (P<0.05) mentioned at least twice or more in≥2 medium/high quality literatures were selected, which were considered as important risk factors affecting prognosis.These factors include: etiology, age, duration of convulsion, refractory CSE, neuroimaging abnormalities.ConclusionFive risk factors indicating poor outcome of CSE in children were summarized. Due to the heterogeneity of various literature studies, Meta-analysis has not been completed, so it has certain limitations.
Objective To investigate the diagnosis and treatment of status epilepticus in hospitals of different levels and the knowledge of status epilepticus in clinical physicians, in order to better guide clinical education in the future. Methods From August 2014 to August 2015, a questionnaire was designed and used to investigate the general situation of the hospital, the diagnosis of status epilepticus and the clinical practice among trainee doctors and students in the epilepsy training class in the Neurological Intensive Care Unit and the Department of Neurology of West China Hospital, Sichuan University. The results of the investigation were statistically analyzed. Results Ninety questionnaires were distributed, and all the questionnaires were retrieved with validity. The number of investigated physicians was 42 (46.7%) from the Department of Neurology, 6 (6.7%) from the Department of Neurosurgery, 30 (33.3%) from the Intensive Care Unit and 12 (13.3%) from other departments. Twenty-seven (30.0%) physicians were from class Ⅲ grade A hospitals, 31 (34.4%) from class Ⅲ grade B hospitals, and 32 (35.6%) from class Ⅱ grade A hospitals. All the class Ⅲ hospitals and 53.1% of class Ⅱ hospitals had electroencephalograph monitoring facilities. The proportion of status epilepticus patients ranged from 0.5% to 10.0% in different hospitals. There were great differences in the identification and treatment of convulsive status epilepticus among different hospitals. Conclusions Status epilepticus is a common emergency. Questionnaire survey is an effective means to reflect the difference in identifying and treating the emergency among different departments and hospitals. It can guide clinical education and promote the identification and treatment of the emergency more accurately in doctors of all levels.