ObjectiveTo observe the clinical efficacy of Xiao’er kang xian capsule added to anti-seizure medications (ASMs) in the treatment of children with refractory epilepsy and its influence on serum neuron-specific enolase (NSE) and cludter of differentiation 19+ (CD19+) levels. Methods A total of 60 children with refractory epilepsy were selected from the pediatric outpatient department and ward of Guangdong Provincial People's Hospital from February 2021 to June 2023. The study subjects were divided into two groups by numerical random method,with 30 cases in each group. The children with Xiao’er kang xian capsule added to the original treatment were the treatment group and the children without Xiao’er kang xian capsule added to the original treatment were the control group. The frequency, duration, EEG characteristics, adverse reactions and changes in serum NSE and CD19+ levels of the two groups were compared after treatment. Results Self-control before and after treatment in the treatment group: the frequency and duration of seizures were significantly reduced, with statistical difference (P<0.05). EEG discharge index in awake period and sleep period were significantly decreased, with statistical difference (P<0.05). After 6 months of treatment, comparison between the two groups of children: the seizure frequency of children in the treatment group was significantly decreased compared with the control group (P=0.03). There was a statistical difference (P<0.05), and the seizure duration in the treatment group was less than that in the control group (P=0.863), the clinical effective rate of treatment group 83.33% was higher than that of control group 63.33% (P=0.08), the effective rate of EEG in treatment group 80% was higher than that of control group 60% (P=0.091), serum NSE and CD19+ in treatment group were lower than that of control group, with no statistical difference (P>0.05). After 12 months of treatment, the frequency and duration of seizures in the treatment group were significantly decreased (P<0.05). The clinical efficacy and effectiveness of treatment group were significantly higher than that of control group (P=0.038). The incidence of adverse reactions in both groups was 16.67% (P>0.05). The effective rate of EEG in treatment group was significantly higher than that in control group (P=0.053). Serum NSE and CD19+ in treatment group were significantly lower than those in control group (P<0.05). ConclusionFor children with refractory epilepsy, the addition of Xiao’er kang xian capsule on the basis of the original treatment has obvious effect low adverse reaction and high safety. NSE and CD19+ can be used as monitoring indicators for the influence of the disease and prognosis evaluation during the treatment of children with epilepsy.
ObjectiveTo compare the efficacy and compliance of children children with refractory epilepsy receiving ketogenic diet (KD) in outpatient department with children receiving KD treatment in inpatient department. MethodsA retrospective study of 44 children with intractable epilepsy receiving the modified classical ketogenic diets in outpatient department from June 2014 to December 2015, who were followed-up during the third, sixth and twelfth month. Records of epileptic seizures and adverse reactions were used to evaluate the efficacy and retention rate of inpatient department KD treatment in children with refractory epilepsy, and compared with 104 children receiving KD treatment in inpatient department at the same period. ResultsThirty-four of the forty-four children comleted observation after 12-month follow-up, 15 cases had been seizure freedom, 22 cases had more than 50% reduction in seizure frequency, 12 patients had less than 50% reduction in seizure frequency.The total effective rate of the KD therapy in outpatient department was 64.7%, and the retention rate was 71%. 18 of of the 104 children with KD treatment in inpatient department at the same period comleted observation after 12-month follow-up, 3 cases had been seizure freedom, 5 cases had more than 50% reduction in seizure frequency, 13 cases had less than 50% reduction in seizure frequency.The total effective rate of the KD therapy in inpatient department was 27.8%, and the retention rate was 17.3%. ConclusionThe KD therapy in outpatient department is effective to children with intractable epilepsy, and there is a highly efficacy and compliance of children receiving KD in outpatient department comparing with children receiving KD in inpatient department. Therefore, it's optional to children with refractory epilepsy who can't received KD by inpatient department because of insufficient number of beds.
ObjectiveTo improve the knowledge of a rare disease named pyridoxine-dependent epilepsy.MethodsHigh-throughput sequencing and Sanger sequencing were used to validate the genes of epilepsy. Mutation gene validation was performed on two probands and their parents. Analyze clinical manifestations, electroencephalogram (EEG), imaging and prognostic features of the two probands.ResultsProbands 1, seizure onset at 4 months, progress as drug-refractory epilepsy, manifested as seizures types origin of multi-focal lesions. Head MRI and fluorodeoxyglucose-positron-based tomography (FDG-PET) were both normal. Gene detection showed that Aldehydedehydrogenase (ALDH7A1) gene has a complex heterozygous mutation contain c.1442G> and c.1046C> T.Proband 2, seizure onset at 5 months, manifested as a tonic-clonic seizure. Intermittent EEG and head MRI were both normal. Genotyping revealed ALDH7A1 gene contain a complex heterozygous mutation c.1547A> G and c.965C> T. Two cases were both seizure free by vitamin B6 therapy and gradually reduce the antiepileptic drugs.ConclusionsPyridoxine-dependent epilepsy may be late onset, some patient can be atypical and early experimental treatment can help to identify and the diagnosis should be confirmed by gene test.
ObjectiveTo investigate the clinical effect of Electro-Cortico-Graphy (ECOG) monitoring on refractory epilepsy caused by double pathology. MethodsA retrospective analysis was performed on 10 patients with refractory epilepsy who underwent surgical treatment in Hunan Brain Hospital from January 2020 to December 2021. The diagnosis of postoperative disease was dual pathology of medial temporal lobe sclerosis (MTS) and focal cortical dysplasia (FCD), and the effect of oral drugs was poor. All patients underwent full preoperative evaluation to determine the scope of excision of epileptogenic lesions. Cortical electrodes were used to monitor the location and scope of epileptic discharge during the operation. Epileptogenic lesions were excised, cortical heat cautery was performed, and then cortical EEG monitoring was performed to adjust the excision strategy. The patients were followed up for 24 to 48 months, and the prognosis was assessed according to the Engel scale. ResultsAmong the 10 patients, 1 patient had acute subdural hemorrhage after surgery, 1 patient had speech and naming disorders, but all of them were recovered at discharge. The other patients had no neurological defects such as intracranial infection, hemiplegia, aphasia, etc. Engel grade I was observed in 9 cases (90%) and Engel grade III was observed in 1 case (10%). ConclusionCortical electrode monitoring is safe and effective for refractory epilepsy caused by double pathological signs.
ObjiectiveTo explore the efficacy and safety of ketogenic diet therapy (KDT) in the rapidly progressive stage of childhood developmental epileptic encephalopathy Dravet syndrome (DS). Methods The clinical data of all patients who added KDT in the Children’s Hospital of Fudan University from 2011 to 2022 were retrospectively collected, and the age of <6 years was used as the criterion for the rapid progression of the disease. The clinica data, genotype and the efficacy of KDT were analyzed in DS patients who met the criteria. Results A total of 32 patients met the criteria for rapid disease progress, including 22 males and 10 females. The age at onset was (5.69±2.10) months. All patients had multiple seizure phenotypes and monthly seizures despite reasonable Antiseizure medications treatment. After 3, 6, 12, and ≥24 months, 93.8% (30/32), 87.5% (28/32), 53.1% (17/32), 34.4% (11/32) remained on the KDT, while 76.7% (23/30), 75.0% (21/28), 70.6% (12/17), 54.5% (6/11) showed >50% reduction in seizure. Status epileptius (SE) was reduced by 100% at 3 months, 71.0% at 6 months, 86.0% at 12 months. After 12 months, 14 patients experienced efficacy degradation. After 3 months, the EEG background rhythm showed improvement in 75.0% patients, interictal epileptic discharges was decreased in 54.5% patients and cognitive function was improved in 78.6% patients. At the initial stage of KDT, 62.5% (20/32) patients had transisent adverse reactions, including diarrhea, vomiting, fatigue, lethargy, hypoglycemia, and metabolic acidosis, but no mid- and long-term adverse reactions were found. ConclusionKDT is an efficective and safe treatment for DS. KDT can effectively control seizures, reduce the incidence of Status SE and shorten the duration of SE. With the prolongation of the KDT course, some patients experienced a degraded effect. KDT can improve abnormal EEG and cognitive function in DS patients. Pharmoco-resistant DS patients are suggested to receive KDT in the early stage of disease progression.
ObjectiveTo investigate the efficacy of vagus nerve stimulation (VNS) in patients with refractory magnetic resonance imaging (MRI)-negative epilepsy and to evaluate potential clinical predictors. MethodsA retrospective collection of efficacy data was conducted on 24 patients with intractable MRI-negative epilepsy treated with VNS, who were followed up for more than six months, at Beijing Tiantan Hospital and Beijing Fengtai Hospital from January 2016 to September 2023. Patients were divided into two subgroups based on their response to VNS: responders (≥50% reduction in seizure frequency) and non-responders (<50% reduction in seizure frequency). The relationship between preoperative clinical data and VNS efficacy was further analyzed to identify potential predictors of VNS efficacy. ResultsA total of 24 patients were included, with an average age of (14.26±8.39) years old. Seizure frequency was reduced by more than 50% in 37.5% of patients, and 8.3% of patients achieved seizure-free after VNS treatment. Preoperative seizure frequency and interictal epileptiform discharge type were significantly associated with VNS efficacy (P<0.05). Multivariate regression analysis showed that a monthly seizure frequency of less than 100 and focal interictal epileptiform discharges were independent predictors of VNS efficacy (P<0.05). ConclusionVNS is an effective treatment for patients with refractory MRI-negative epilepsy. Lower monthly seizure frequency and focal interictal epileptiform discharges are potential predictors of VNS efficacy. These findings provide important references for clinicians in selecting and evaluating patients for VNS treatment.
Magnetic resonance-guided focused ultrasound (MRgFUS) is an emerging therapeutic ultrasound modality that integrates the precise localization capabilities of magnetic resonance imaging with the non-invasive therapeutic properties of focused ultrasound (FUS). This technology enables accurate targeting of deep brain structures and facilitates the treatment of various central nervous system disorders, including essential tremor, Parkinson's disease, and chronic neuropathic pain, through mechanisms such as ablation of diseased tissue, modulation of neural activity, and disruption of the blood-brain barrier. However, its efficacy and safety in the treatment of drug-resistant epilepsy (DRE) remain subjects of ongoing research. Consequently, MRgFUS is under investigation to ascertain its effectiveness and safety profile for treating DRE. This review aims to summarize the current progress in the application of MRgFUS for DRE therapy.