Abstract:Neurocritical care conditions are common causes of death and disability in children.In nearly all pediatric neurocritical cases,various immune cells and factors form a complex and dynamic immune-inflammatory network.The imbalance of homeostasis in this inflammatory network system ultimately leads to immune injury.A comprehensive understanding of the occurrence and development process of immune-inflammatory responses in pediatric neurocritical care,along with emphasis on dynamic assessment of immune inflammation,is conducive to precision treatment and personalized treatment,improving the prognosis of pediatric neurocritical care and reducing the medical burden.

Abstract:Viral infection-associated encephalopathy refers to a group of acute brain dysfunction syndromes that occur during or following viral infections,on which no unified international consensus currently exists.In recent years,with advances in the understanding of imaging and immunology,subtypes such as acute necrotizing encephalopathy(ANE)have been gradually recognized.These disorders share common mechanisms,including abnormal immune-inflammatory responses and disturbances in the cerebral microenvironment.In clinical practice,early identification is crucial,and supportive treatment typically involves immunomodulation,blood purification,and neuroprotection.Prognosis varies significantly among different subtypes.Based on the characteristics of pediatric cases,this review explores the pathogenesis,clinical features,imaging characteristics and treatment progress to increase efficiency in recognition and intervention.

Abstract:With the promotion and popularization of cardiopulmonary resuscitation technology,the success rate of cardiopulmonary resuscitation has increased;however,the prognosis of patients after cardiopulmonary resuscitation has not been significantly improved.Brain damage is the main cause of death and disability.Therefore,reducing brain damage is the key and difficult point of treatment following cardiac arrest.This paper reviewed the measures of neuroprotection after cardiopulmonary resuscitation.

Abstract:To analyze a case of DeSanto-Shinawi syndrome with refractory epilepsy diagnosed in the Third Affiliated Hospital of Zhengzhou University,aiming to provide reference for clinicians in the diagnosis and treatment of related diseases.A female patient of 11 years old presented with refractory epilepsy,intellectual disability and facial dysmophism.Video-EEG showed focal seizures.She was treated with levetiracetam,topiramate,lacosamide and sodium valproate.Whole exome sequencing revealed a de novo mutation(c.1801delA,p.Ile601PhefsTer5)of WAC gene,leading to protein truncation,which was frameshift loss variant,and it had not been reported at home or abroad.DeSanto-Shinawi syndrome(DESSH)is a neurodevelopmental disorder syndrome caused by loss-of-function mutations in WAC gene.Only one report described a patient with electrical status epilepticus during sleep(ESES)at home.This case report provided reference for the clinical diagnosis and treatment of relevant diseases.

Abstract:Febrile infection-related epilepsy syndrome(FIRES)is a subtype of new-onset refractory status epilepticus(NORSE),characterized by refractory status epilepticus and poor prognosis,and may leave behind severe cognitive andbehavioral dysfunction and drug-resistant epilepsy,etc.In recent years,with the deepening of understanding of this disease,the treatment concept has also changed.It is advocated that on the basis of standardized anti-epileptic seizure treatment,early and timely immunotherapy and comprehensive support should be carried out.This article elaborates on the pathogenesis,clinical manifestations,treatment and prognosis of FIRES,with the aim of enhancing understanding and improving prognosis.

Abstract:Patients in the pediatric neurocritical care(NCC)often require invasive mechanical ventilation due to neurological-related respiratory failure.While guidelines exist for weaning and extubation in ICU patients,there are currently no clear recommendations for weaning and extubation strategies or timing for pediatric NCC patients.This article summarizes current research on weaning,extubation timing,and predictive indicators for pediatric NCC patients.Based on recommendations for ICU and NCC patients in the current guidelines,the timing of weaning and extubation in pediatric NCC patients are explored.

Abstract:To explore the clinical characteristics and prognosis of stroke-like episodes(SLE)in phosphomannomutase-2-related congenital disorders of glycosylation(PMM2-CDG).We analyzed retrospectively the clinical data of siblings who successively suffered from SLE which was definitely diagnosed as PMM2-CDG and made literature review related to the disease.The siblings both suffered from SLE and seizures.The 10-year-old brother experienced slight developmental delay and the 6-year-old sister was diagnosed with hypothyroidism.Whole exome sequencing and Sanger sequencing identified homozygous mutation(c.310C＞G,p.Leu 104Val)in the brother and sister,while their parents were heterozygous.They were diagnosed with PMM2-CDG.The literature review showed that the most common mutation site of PMM2-CDG was p.I132T in China,which was p.R141H in the literature reported abroad.SLE in PMM2-CDG patients are usually characterized by persistent high fever,disturbance of consciousness,symptoms of neurological defects,convulsion and headache caused by head trauma and viral infection,but the prognosis is good,and there are few cases of neurological sequelae.Invasive examinations such as lumbar puncture and neuroimaging under sedation should be avoided in case of aggravating the condition.Gene test helps to confirm the diagnosis.

Abstract:Objective This study aims to summarize and analyze the clinical features,genetic mutation characteristics,and gene-phenotype correlations in five pediatric patients with developmental epileptic encephalopathy caused by CACNA1A gene mutations,in order to provide a basis for early diagnosis,treatment strategy selection,and genetic counseling of this condition.Methods Clinical data,genetic results,and family verification reports were collected in five pediatric patients with developmental epileptic encephalopathy caused by CACNA1A gene mutations admitted to the Department of Neurology of Hebei Children's Hospital from its establishment(1989)to January 2023.Descriptive analysis was conducted on the patients' clinical characteristics,mutation types,and other relevant factors.Results Among the 5 pediatric patients with developmental epileptic encephalopathy,3 were male and 2 were female,with onset ages ranging from 2 months to 6 years and 8 months.Two cases were inherited mutations,while 3 were de novo mutations.There were four cases of missense mutations and one case of nonsense mutation.The initial seizure types varied:three were generalized tonic-clonic seizures,one was a focal seizure,and one was an absence seizure.Among them,one case was a generalized tonic-clonic seizure with status epilepticus complicated by acute encephalopathy.Four patients exhibited generalized developmental delay,while one had normal development.Video EEG findings included 1 case of generalized spike-and-wave activity intermixed with slow waves,1 case of frontal spikes,1 case of multifocal spikes,1 case of generalized spike-and-wave activity intermixed with slow waves,and 1 normal case.Cranial MR1 showed that there were 3 normal cases,1 case of demyelination with mild widening of the frontal-temporal subarachnoid space,and 1 case of focal demyelination,bilateral widening of the frontal-temporal subarachnoid space,widening of cerebellar sulci,and bilateral hippocampal swelling.During the 1-year follow-up,seizures resolved in 2 patients while 3 patients continued to experience intermittent seizures.Mutations located in the Ⅰ-S1 and Ⅳ-S6 regions of the Cav2.1 calcium channel carboxyl-terminal domain resulted in severe phenotypes,whereas mutations in the Ⅳ-S6 and Ⅲ-S2 regions led to mild phenotypes.Software prediction indicated that mutations in children with severe phenotypes diagnosed with drug-resistant epilepsy caused structural alterations in the protein;on the contrary,mutations in children with mild phenotypes did not induce structural changes in the protein.Conclusion The age of onset of developmental epileptic encephalopathy caused by CACNA1A mutations ranges from infancy to school age.Common seizure types are diverse,with most cases presenting as drug-resistant epilepsy.Severe cases may lead to status epilepticus and acute encephalopathy.The drug-resistant nature of seizures may be related to the location of the gene mutation and the resulting structural alterations in the protein.

Abstract:The clinical data of a child with parenteral infection of rotavirus admitted to Guangzhou Women and Children's Medical Center,Guangzhou Medical University in January 2023 were retrospectively analyzed,and the characteristics of the disease and diagnosis and treatment experience were analyzed based on the literature.A 1-year-old male child had vomiting,changes in stool traits and fever at onset,and he rapidly presented with convulsions,consciousness disturbance and shock.Cranial CT suggested acute necrotizing encephalopathy.Stool specimens were tested and showed weakly positive for rotavirus.CSF and blood samples were subjected to metagenomic next-generation sequencing(mNGS)and rotavirus was detected,Rotavirus infection was detected by local histopathology(hematoxylin-eosin staining,HE)in several organs,suggesting that rotavirus could cause damage to various organs through viremia.We should be alert to parenteral infection after rotavirus infection.

Abstract:This study interprets the 2024 consensus of the International League Against Epilepsy(ILAE)on the diagnosis and treatment of anxiety and depression in children and adolescents with epilepsy,and compares it with other international guidelines.By analyzing the differences in screening methods,diagnostic tools,treatment principles,and long-term management strategies,the study proposes a clinical diagnosis and management protocol.The findings indicate that anxiety and depression in children with epilepsy are often overlooked,emphasizing the critical importance of early identification and intervention.The study also discusses the necessity for family involvement and multidisciplinary management,highlighting the key role of combining psychotherapy with pharmacotherapy in improving patient outcomes.

Abstract:Transcranial direct current stimulation(tDCS)is a non-invasive brain stimulation technology that has developed rapidly in recent years.It has been widely used in adults and achieved good effects,and its application in children's neurodevelopmental diseases has also increased.Attention deficit hyperactivity disorder(ADHD)is the most common neurodevelopmental disorder,which has a serious impact on academic,life and social life of the child patients.tDCS can improve core symptoms and executive function deficits in children with ADHD and bring long-term effects by inducing neuroplasticity.This article reviews the principles,efficacy,and influencing factors of tDCS in the treatment of ADHD,providing reference for clinical application and technological advancements.

Abstract:To investigate the impact of NSF gene mutations on human nervous system development.A retrospective analysis of the clinical data of a case of NSF gene mutation was conducted,along with a review of relevant literature.The patient was a male infant who presented with symptoms at 3 months of age.He experienced frequent vomiting,followed by developmental regression and global developmental delay,accompanied by abnormal posture.Cranial magnetic resonance imaging revealed bilateral globus pallidus lesions.Genetic testing identified a de novo mutation in the NSF gene,specifically chr17:44668141-44772028,gain 1(exon:1-12)duplication.Considering the highly conserved nature of the NSF gene and its high expression in the nervous system of eukaryotes,along with the severe neurological impairment observed in this case,the mutation was considered pathogenic.NSF gene mutations may lead to developmental disorders of the human nervous system and affect brain function.Such mutations are rarely reported in human being,and the specific mutation identified in this patient has not been previously documented.This case expands the spectrum of NSF gene mutations and enhances the understanding of the pathogenicity of NSF gene mutations.

Abstract:Objective To summarize the clinical manifestations,genetic features and treatments of children with acute encephalopathy caused by ATP1A2 gene variants,in order to improve the understanding of the disease.Methods The clinical manifestations,treatment and genetic variant spectrum of eight children with acute encephalopathy caused by ATP1A2 gene variants diagnosed in the Department of Neurology of Beijing Children's Hospital,Capital Medical University from 2015 to 2024 were retrospectively summarized and analyzed,and the child patients were followed up.Results There were four males and four females.The age at onset was from 5 months to 5 years 9 months.The causes included fever in eight patients,the intake of large amounts of food in two patients and mild head trauma in one patient.The onset symptoms were coma in five patients and lethargy in three patients(one patient with dysphoria).The time of symptoms reaching peak was from onset to over 4 days.GTCS occurred in eight patients,hemiplegia occurred in four patients,and aphasia occurred in five patients.None of the eight patients had headache.Disturbance of consciousness lasted from 40 hours to 9 days,and hemiplegia and aphasia lasted from 19 days to 6 months and from 8 days to 26 days,respectively.Previous episodes of encephalopathy ranged from 0 to 6 times.Two patients respectively developed seizure without fever in 1 year 6 months old and 5 years 8 months old.Six patients had recurrent fever and convulsions between 5 months and 2 years 5 months old.Alternating hemiplegia occurred in 2 patients aged from 5 to 10 years old and lasted from 30 minutes to 3 days.Four patients had mild mental retardation.Single or bilateral cerebral cortical cytotoxic edema was shown in cerebral MRI in five patients during acute stage,mild cerebral atrophic changes were shown at recovery stage,and one of them had smaller right cerebral hemisphere,delayed myelination,and a malformed and deepened cerebral fissure in left occipital lobe.Generalized slow wave was observed in EEG in five patients during acute stage;periodic slow wave was observed in two patients;left frontal spike wave,spike slow wave and left frontal-origin subclinical seizures were detected in one patient during recovery stage.Six ATP1A2 gene variants were found in the 8 cases,including four inherited variants and four de novo variants.One novel variant c.2540T＞A(p.p.I847N),and two hot spot variants c.2563G＞A(p.G855R)and c.2143G＞A(p.G715R)were found.Conclusion Acute encephalopathy in children caused by ATP1A2 gene variants is likely to occur under stress of fever,head trauma,and intake of large amounts of food.The initial symptom is often coma,which is often combined with GTCS,hemiplegia,and aphasia.The course of the disease is reversible and can recur.Generally,headache does not occur in the acute stage,and it is easy to be misdiagnosed as viral encephalitis and cerebral infarction.Avoiding triggering factors and giving symptomatic treatment are the main treatment methods.

Abstract:Targeted Temperature Management(TTM)is a crucial neuroprotective strategy in pediatric neurocritical care,yet several key problems remain unresolved in its clinical application.Due to immature neurological development,high metabolic rates,and weak thermoregulation,children are more susceptible to secondary brain injury mediated by mitochondrial dysfunction,oxidative stress,and neuroinflammatory responses following acute neurological insults.TTM may exert neuroprotective effects by reducing cerebral metabolism,suppressing inflammation,and inhibiting apoptosis.However,the optimal implementation protocol(e.g.,target temperature,duration,rewarming rate)and the risk-benefit ratio in specific populations require further validation through large-scale clinical studies and long-term follow-up.

Abstract:For children with severe neurocritical conditions,analgesia and sedation are key components of treatment,ensuring patients' comfort during their stay in the intensive care unit and promoting neurological function recovery and improving prognosis.However,there are still differences in the management strategies of analgesia and sedation in children worldwide.This article summarizes the assessment and monitoring of analgesia and sedation in children with severe neurocritical conditions,as well as non-pharmacological and pharmacological treatment options,in order to standardize the application and safety assessment of analgesic and sedative drugs in children with severe neurological conditions,and ultimately promote the analgesia and sedation measures to develop towards evidence-based and precise drug treatment in children with severe neurocritical conditions.

Abstract:Autoimmune encephalitis(AE)is a disease in which autoimmune mechanisms lead to diffuse or multiple inflammatory lesions in the brain parenchyma,resulting in neurological dysfunction.AE combined with related tumors are called paraneoplastic AEs,and the paraneoplastic AE that is consistent with limbic encephalitis is called paraneoplastic limbic encephalitis.The clinical manifestations of pediatric AEs are complex and diverse,and they are very different from adult AEs in terms of clinical disease spectrum,incidence of concomitant tumors,clinical manifestations,disease process,treatment efficacy,and final prognosis.This article summarizes the research progress in the diagnosis and treatment of AEs in children in recent years,aiming to arouse the attention of clinicians to AEs and provide reference for clinical diagnosis and treatment.

Abstract:A 3-year-old and 1-month-old female child visited the Department of Pediatric Endocrinology of the First Affiliated Hospital of Sun Yat-sen University in November 2020 due to"breast development with accelerated growth for 1.5 years".After examination,she was diagnosed with central precocious puberty(CPP).After admission,pituitary magnetic resonance imaging(MRI),magnetic resonance angiography(MRA),magnetic resonance spectroscopy(MRS),diffusion-weighted imaging(DWI)+susceptibility weighted imaging(SWI)and other examinations were performed,and the diagnosis was vasculitis-related smoke syndrome.Due to poor control of bone age(BA)in the child after treatment with gonadotropin-releasing hormone analog(GnRHa),17-hydroxyprogesterone(170HP)was checked.The level of 170HP was elevated,and the adrenocorticotrophic hormone(ACTH)stimulation test was performed,which indicated the possibility of non-classical congenital adrenal hyperplasia(NCCAH).This case of CPP accompanied by vasculitis-associated smoke syndrome is rare,suggesting that vasculitis-associated smoke syndrome can also be a cause of CPP.

Abstract:Objective To investigate the relationship between obstructive sleep apnea(OSA)and allergic rhinitis(AR)in children,and to analyze the associated factors.Methods A retrospective analysis was conducted on the polysomnography(PSG)data,sleep questionnaire responses,and clinical records of 1,236 pediatric patients who underwent PSG at the Sleep Medicine Centre of the Children's Hospital affiliated to the Capital Institute of Pediatrics from January 2020 to May 2023.Patients included in the study had an apnea-hypopnea index(AHI)≥ 1 and complete questionnaires.Exclusion criteria comprised a history of asthma,neurological and muscular diseases,craniofacial anomalies,and previous adenoid tonsillectomy.Ultimately,1,137 patients with OSA aged 0-17 years were included.These patients were categorized into mild,moderate,and severe OSA groups based on their condition,and were further divided into AR and no-AR groups according to questionnaire and clinical information.The basic characteristics and PSG data of the two groups were compared,and Logistic regression was used to analyze the risk factors for OSA aggravation,R software(version 4.2.3)employed for statistical analysis.Results Of the 1,137 OSA patients,686 were male and 451 were female,with 476(41.9％)diagnosed with AR.The mean age of the AR group was 5.46 years,and their BMI was 16.80,which were 5.77 years and 17.20 in the no-AR group;these differences were not statistically significant.The AR group had a mean minimum oxygen saturation of 0.89,which was higher than the 0.88 observed in the no-AR group(P＜0.05).Additionally,the microarousal index averaged 0.85 events/h in the AR group,lower than the 1.01 events/h in the no-AR group(P＜0.05).No significant differences were found in the distribution of AR and no-AR groups across different OSA severity levels,and there was no significant correlation between moderate to severe OSA and the presence of AR.Conclusion The prevalence of AR is notably high among pediatric OSA patients.Furthermore,PSG parameters,specifically minimum oxygen saturation and microarousal index,are more favorable in patients with AR compared to those without AR.

Abstract:Currently,there are few reports on the long-term efficacy in familial male-limited precocious puberty(FMPP)in China.This article reports the clinical characteristics,genetic testing result,and the treatment effects and safety during a 9-year follow-up of a child with FMPP caused by an activating mutation of the LHCGR gene.The male patient presented with penis enlargement and accelerated growth at one year and six months old.Based on his serum testosterone level,LHRH stimulation test result,bone age and other auxiliary examinations,he was initially diagnosed with peripheral precocious puberty.Genetic detection revealed a missense mutation of the LHCGR gene exon11 in the patient and his mother,resulting in the mutation of amino acid 532 from leucine to arginine(p.L532A,a suspected new mutation site),and the boy was finally diagnosed with FMPP.After combined treatment with letrozole,medroxyprogesterone,and triptorelin acetate for more than 9 years,the child achieved a satisfactory final height without any obvious adverse reactions.This study accumulates experience in the diagnosis and treatment of FMPP and expands the mutation spectrum of the LHCGR gene.

Abstract:Chronic nonbacterial osteomyelitis is a rare autoinf-lammatory bone disease characterized by recurrent nonbacterial osteomyelitis.The lesions mainly affect long bones,spine,and anterior chest wall,presenting as nocturnal bone pain caused by single or multiple bone marrow inflammations.The disease progresses chronically and insidiously,with significant heterogeneity in clinical manifestations.Delayed treatment can lead to irreversible bone destruction.This article reviews and summarizes the disease from aspects such as pathogenesis,clinical manifestations,diagnostic criteria,differential diagnosis,and treatment strategies,aiming to improve pediatricians' understanding of the disease and provide a theoretical basis for standardized diagnosis and treatment.