Background: Convulsive status epilepticus (CSE) is a common neurologic emergency with high morbidity and mortality. This single center study is aimed to assess changes of serum biochemical biomarkers after seizure, and their associations with the development of CSE. Methods: From January 2015 to October 2016, a total of 57 CSE patients, and 30 healthy controls without central nervous system diseases were enrolled in Children’s Hospital of Soochow University. CSE patients were further divided into viral encephalitis (VEN, 13 cases), primary generalized epilepsy (PGE, 30 cases), and complex febrile seizures (CFS, 14 cases). The levels of serum biochemical biomarkers were measured using the corresponding commercial ELISA kits. Logistic regression analysis was performed to identify the associations between these biomarkers and diseases. Results: At the 1^st and 4^th day of CSE, neuron-specific enolase (NSE; 1^st day: 20.553 ± 5.360, 4^th day: 10.094 ± 3.426) and vascular endothelial growth factor (VEGF; 1^st day: 153.504 ± 31.246, 4^th day: 138.536 ± 25.221) in the CSE group were increased compared to the control (NSE: 6.138 ± 1.941; VEGF: 119.210 ± 31.681). Both the levels of S-100 calcium binding protein B (S-100B; 1^st day: 0.738 ± 0.391) and C-reactive protein (CRP; 1^st day: 11.128 ± 12.066) were elevated at 1^st day of CSE (S-100B: 0.387 ± 0.040; CRP: 3.915 ± 2.064). For glial fibrillary acidic protein (GFAP), it was remarkably upregulated at 4^th day of CSE (3.998 ± 1.211). NSE (P = 0.000), S-100B (P = 0.000), CRP (P = 0.011), and VEGF (P = 0.000) at 1^st day of CSE, and NSE (P = 0.000), VEGF (P = 0.005), and GFAP (P = 0.000) at 4^th day of CSE were significantly associated with the occurrence of CSE. Besides, NSE (P = 0.002), S-100B (P = 0.001), and VEGF (P = 0.002) at 4^th day of CSE were significantly associated with VEN. Conclusions: The levels of serum NSE, S-100B, CRP, VEGF, and GFAP are associated with CSE.

Neuralgic amyotrophy (NA) is a neurological disease that occurs across all age groups, but its prognosis in children is controversial. The present report adds to the knowledge about its prognosis by describing four cases of pediatric NA in which the patients were treated with immunotherapy and followed up for 1 year. We also present a summary of relevant cases of pediatric NA treated with immunotherapy. The clinical features of the four present cases were similar to those of previously reported cases, and their symptoms improved after immunotherapy. At the 1-year follow-up, three of the children gained near complete recovery, and their improvement was significantly better than that observed at the 2-month follow-up. A review of the literature showed that most previously reported children with NA showed improvement after immunotherapy, but no more than half of the patients recovered fully. These findings indicate that in children with NA, immunotherapy is fairly effective and its benefits improve with time. Thus, long-term follow-up is needed in these patients to determine their prognosis.

Objective: In order to analyze the clinical characteristics of epileptic seizures in children with acute lymphoblastic leukemia (ALL) during treatment. Methods: The clinical and imaging data of children diagnosed as ALL with epilepsy seizures from January 2013 to December 2020 were retrospectively analyzed. Results: A total of 2217 children with ALL were admitted during the study, of whom 229 (10.33%) had epileptic seizures after ALL treatment. Among them, 45 (19.65%) were in the high-risk group and 184 (80.35%) were in the low-risk group. Epileptic seizures mainly occurred in the induction remission period (24.02%), maintenance treatment period (25.33%) and after bone marrow transplantation (21.40%). The common causes were MTX-related demyelinating encephalopathy (34.06%) and reversible posterior encephalopathy syndrome (PRES) (25.3%). The first symptom was mainly convulsion (34.50%). The first attack had a comprehensive attack and partial attack. Most patients stop themselves. 30 cases (13.10%) had acute recurrence of epilepsy (recurrence within 3 months after the first attack), and 49 cases (25.76%) had neurological dysfunction after follow-up. 36 cases developed symptomatic epilepsy. Among the 130 children who completed the follow-up, 78 (60.00%) had no obvious neurological sequelae, and 52 (40.0%) had neurological sequelae. Among the 52 cases, there were 34 cases of mild sequelae and 18 cases of severe sequelae, including 8 cases of epilepsy combined with cognitive impairment. Conclusion: Epileptic seizure is a common neurological complication during ALL treatment. The etiology and associated manifestations of the first epileptic seizure are diverse. Early neuroimaging and EEG examination are helpful for early diagnosis and treatment.

Objective: To summarize the clinical characteristics of a cohort of nine Chinese children with GNAO1 encephalopathy and analyze their genotypes. Methods: A retrospective study was conducted on nine children diagnosed with GNAO1 encephalopathy at the Neurology Department of two children’s hospitals between January 2019 and December 2022. Their clinical manifestations, genetic test results, cranial imaging, electroencephalography and treatment were summarized. Their prognosis was followed up. Results: All nine patients presented with moderate-to-severe psychomotor developmental delay and dystonia. Six patients exhibited neonatal or infantile-onset epilepsy, manifesting as generalized tonic-clonic seizure, myoclonic seizure, epileptic spasms, and were diagnosed with developmental and epileptic encephalopathy 17 (DEE 17). Two patients presented with choreoathetosis in infancy without epileptic seizure and were diagnosed with the neurodevelopmental disorder with involuntary movements (NEDIM). One patient presented with choreoathetosis at two years of age and developed focal seizures at six years of age, representing an intermediate phenotype. During a follow-up period of 0.8–3.5 years, one child died due to infection. The remaining eight continued to exhibit psychomotor retardation. Pathogenic or likely pathogenic de novo heterozygous missense variants in GNAO1 were identified in all nine cases. Among these, the variants c.17G > T (p.Ser6Ile), c.119G > C (p.Gly40Ala), and c.748 C > T (p.Leu250Phe) are novel. Conclusion: In conclusion, we analyzed the clinical characteristics and genetic variants of a cohort of nine Chinese children with GNAO1 variants and identified three novel GNAO1 variants. Our study expanded the spectrum of genotypes and phenotypes in GNOA1-associated encephalopathy.