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.
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.
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.
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.
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
ObjectiveTo explore the effects of cytokines on Febrile seizures (FS) in children with febrile seizures (Febrile seizures), febrile seizures duration and prognosis, and to explore the correlation between cytokines and the clinical manifestations and prognosis of FS. MethodsA retrospective analysis was performed on 121 children with FS (77 cases in the simple FS group and 44 cases in the complex FS group) who were treated in the pediatrics department of the Maternal and Child Health Hospital of Inner Mongolia Autonomous Region from January 2021 to October 2022 as the experimental group, including 71 males and 50 females, with a male-to-female ratio of 1.42:1, according to the type of attack (93 cases in the comprehensive group, 44 cases in the complex FS group). The focal group (28 cases) and convulsion duration (91 cases in <5 min group and 30 cases in ≥5 min group) were divided into groups, and 127 cases of children with fever but no convulsions were compared with the control group. In addition, 121 children with FS were followed up for 1 year by neurology specialist outpatient department and telephone follow-up. According to the follow-up, they were divided into the first course group, the relapse group and the secondary epilepsy group, so as to further explore the correlation between cytokines and the prognosis of children with FS. ResultsExperimental group compared with control group: Serum IL-1β (1.38 pg/mL), IL-2 (2.26 pg/mL), IL-4 (1.53 pg/mL), IL-6 (10.51 pg/mL), IL-10 (3.09 pg/mL), IL-12p70 (1.74 pg/mL), TNF-α (2.11 pg/mL), IFN-γ (46.56 pg/mL), IL-1β (1.38 pg/mL), IL-1β (1.26 pg/mL), IL-4 (1.53 pg/mL), IL-6 (10.51 pg/mL), IL-10 (3.09 pg/mL), IL-12P70 (1.74 pg/mL), TNF-α (2.11 pg/mL), IFN-γ (46.56 pg/mL). IFN-α (25.92 pg/mL) levels were higher, and the differences were statistically significant (P<0.05). There was no significant difference between the simple group and the complex group (P>0.05). <5 min group compared with control group: serum levels of IL-2 (2.32 pg/mL), IL-4 (1.53 pg/mL), IL-6 (9.65 pg/mL), IL-12p70 (1.74 pg/mL), TNF-α (2.11 pg/mL), IFN-γ (44.63 pg/mL), IFN-α (29.67 pg/mL) were higher, and the differences were statistically significant (P<0.05). Compared with control group, the levels of IL-2 (2.06 pg/mL), IL-6 (14.67 pg/mL), IL-12p70 (1.97 pg/mL), IFN-γ (58.56 pg/mL) and IFN-α (17.50 pg/mL) in ≥5 min group were higher, and the differences were statistically significant (P<0.05). ROC curve analysis showed that serum IFN-α had a high predictive value for FS onset, the cut-off point was 8.64pg/ml, and the sensitivity and specificity were 75.63% and 76.38%, respectively. There was no significant difference between the first course of disease group, relapse group and secondary epilepsy group. ConclusionSerum proinflammatory cytokines IL-1β, IL-2, IL-6, IL-12p70, TNF-α, IFN-γ, IFN-α and anti-inflammatory cytokines IL-4 and IL-10 are involved in the pathogenesis of FS. There was no correlation between the simplicity and complexity of serum cytokines. IL-2, IL-6, IL-12p70, IFN-γ, IFN-α were positively correlated with the duration of convulsion. When serum IFN-α>8.64 pg/ml, the possibility of FS attack increased.