Objective To investigate the relationship between peripheral blood immunoglobulin,erythrocyte sedimentation rate(ESR),homocysteine(Hey)and the severity of central nervous system vasculitis(CNSV)in children,as well as its impact on prognosis.Methods A total of 103 children with CNSV from February 2018 to February 2023 were selected as the study group,and 103 healthy children as the control group.The peripheral blood levels of immunoglobulin A(IgA),immunoglobulin G(IgG),immunoglobulin M(IgM),ESR and Hcy were compared between the 2 groups to evaluate the relationship between each index and the degree of CNSV disease[Birmingham vasculitis disease activity score(BVAS)]and its predictive value for prognosis.Results The levels of peripheral blood IgA,IgG,IgM,ESR and Hcy in the study group were higher than those in the control group of healthy children(P＜0.05);the BVAS scores and the levels of peripheral blood IgA,IgG,IgM,ESR and Hcy in children with active disease were higher than those in children with inactive disease(P＜0.05);the levels of peripheral blood IgA,IgG,IgM,ESR and Hcy were positively correlated with the BVAS scores in children with CNSV(P＜0.05);two cases were lost to follow-up after 6 months.Among the children with CNSV,76 had good prognosis and 25 poor prognosis.The levels of peripheral blood IgA,IgG,IgM,ESR and Hcy in children with poor prognosis were higher than those in children with good prognosis(P＜0.05);before and after correcting for other factors,peripheral blood IgA,IgG,IgM,ESR and Hcy were all independent factors affecting the prognosis of children with CNSV(P＜0.05);the area under curve(AUC)of peripheral blood IgA,IgG,IgM,ESR and Hey for predicting the prognosis of children with CNSV was 0.747,0.808,0.841,0.839,and 0.746,respectively,with optimal cutoff values of 350.58 mg/dL,1513.06 mg/dL,124.84 mg/dL,51.22 mm/h,and 13.66 pmol/L,respectively;the AUC of peripheral blood IgA,IgG,IgM,ESR and Hey for jointly predicting the prognosis of children with CNSV was 0.943(95％CI 0.878-0.979),with a sensitivity of 92.00％and a specificity of 93.42％,which was superior to individual prediction of each indicator.Conclusion Peripheral blood IgA,IgG,IgM,ESR and Hey are positively correlated with the severity of CNSV.Abnormally high expression increases the risk of poor prognosis,and the combined predictive value is reliable.

Research has shown mutations in the voltage-gated sodium channel gene SCN2A to be associated with developmental delays and infantile seizures in patients with early-onset epileptic encephalopathies (EOEEs). Here, we report the case of an infant with a de novo SCN2A mutation with EOEE who had medically refractory seizures that improved with a ketogenic diet (KD) implemented at an age less than 2 months. On the day of his birth, the infant presented with a pattern of convulsions with dozens of episodes per day. An initial video electroencephalogram revealed poor reactivity of background activity, with multiple partial episodes starting from the right temporal region, and abnormal electrical activity in the right hemisphere. The seizures previously were not controlled with successive therapy with phenobarbital, topiramate, and levetiracetam. Genetic testing revealed the presence of a mutation in the SCN2A gene (c.4425C>G, p.Asn1475Lys). The infant’s seizures decreased significantly with a combination of KD and medication. The present case exemplifies the potential for personalized genomics in identifying the etiology of an illness. Furthermore, the KD appears to feasible in infants younger than 2 months and might elicit good responses to EOEE associated with SCN2A mutation.