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.
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.
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.
Febrile seizure is one of the most common emergencies in children, accounting for about 30% of all types of children, and the most common among children aged 6 months to 5 years. At the same time, children in this age group are at the peak of growth and development, and the content of various trace elements in the body is prone to abnormalities. At present, there are few related studies on febrile seizure and trace elements in children. This paper summarizes the related studies on febrile seizure and trace elements in order to provide theoretical guidance for the prevention and treatment of febrile seizure
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.