Spinal muscular atrophy (SMA) is a common fatal and disabling neuromuscular disease in infants and young children, caused by the degeneration of spinal anterior horn motor neurons, leading to progressive muscle weakness and atrophy in the limbs. In recent years, the emergence and application of disease-modifying therapies are gradually changing the natural history of SMA. However, the efficacy of these therapies is closely related to factors such as the age at treatment initiation and the pre-treatment disease course. Pre-symptomatic treatment is more promising to enable the affected children to survive and achieve near-normal motor milestones. This consensus was developed by experts from relevant fields, focusing on the following themes: pre-symptomatic SMA diagnosis, treatment decision-making, follow-up management, and key points for parental communication, with the aim of providing standards and guidance for clinical practices of pre-symptomatic treatment of pediatric SMA.

Nocturnal enuresis is a common disease in childhood, which can be harmful to the children’s physical and psychological well-being. Standardized diagnosis and therapeutic approaches are very important for the efficacy and prognosis of enuresis. In recent years, with the accumulation of domestic and foreign clinical research evidence and the application of new diagnostic and therapeutic concepts, it is of great clinical significance to update and improve the consensus on the diagnosis and treatment of enuresis. Therefore, Chinese Cooperative Group for the Management of Pediatric Enuresis Affiliated to Pediatric Nephrology Committee of Chinese Medical Doctor Association has revised and updated the 2014 version of the "Expert Consensus on the Management of Monosymptomatic Nocturnal Enuresis in Chinese Children" based on the latest domestic and international evidence-based rationales and combined with clinical experience. The definition has been revised in accordance with international authoritative guidelines, and the diagnosis process and standardized terminology has been enhanced. The content of medical history collection has been updated to emphasize the differentiation of other diseases and comorbidities, and the recording method of the voiding diary has been revised to improve compliance. For monosymptomatic enuresis, the dosage adjustment and discontinuation plan of desmopressin have been added, and the specific dosage recommendations for second-line drug treatment have been refined. Additionally, a new section on non-monosymptomatic enuresis has been introduced, including treatment strategies and pharmacologic interventions. This consensus recommendations in a problem-oriented manner, delivering more comprehensive and structured guidance for the management of nocturnal enuresis.

Objective To understand the prevalence of respiratory syncytial virus (RSV) and co-positivity of other pathogens before, during and after COVID-19 pandemic, and to provide evidence-based support for improving the prevention and treatment of acute respiratory tract infections (ARTIs) in children. Methods The pathogen detection results of ARTIs children aged ≤16 years who were admitted to the Children's Hospital of Soochow University from January 2016 to May 2024 were retrospectively analyzed. The characteristics of RSV epidemics and mixed positivity for other pathogens in the first year of the COVID-19 epidemic (2020, Stage Ⅰ), the second and third years (2021-2022, Stage Ⅱ) and the post-COVID-19 epidemic (January 2023 to May 2024, Stage Ⅲ) were compared with those in the pre-epidemic period. Results The study included 83356 children with ARTIs, with 11277 (13.5%) testing positive for RSV, 5605 (6.7%) testing positive for RSV alone, and 5672 (6.8%) testing positive for RSV in combination with other respiratory pathogens. In RSV positive children, the detection rates of bacteria, other viral pathogens and atypical pathogens were 39.5%, 13.6% and 5.7%, respectively. RSV test positive rates decreased in 2020 and 2022, while RSV test positive rates increased in 2021, 2023 and 2024 compared with predicted positive rates. There were significant differences in age, epidemic period and season between single RSV positive group and mixed RSV positive group (P<0.001). In stage Ⅲ, the positive rate of RSV mixed with other pathogens was significantly higher than that of single RSV, and the difference was statistically significant (P<0.01). The detection rate of influenza A/B viruses, human parainfluenza virus, adenovirus, human metapneumovirus, Mycoplasma pneumoniae, Chlamydia pneumoniae and Haemophilus influenzae was significantly higher in children with RSV. Conclusions The COVID-19 pandemic had an adverse impact on the prevalence of RSV and the diagnosis and treatment of mixed-positive cases of other pathogens, and the resurgence of mixed-positive RSV and the escalation of infections should be monitored for a long time after COVID-19.

Objective To raise the awareness of Pneumocystis jirovecii pneumonia (PCP) in children complicated with severe pertussis, and to enable early diagnosis for improved prognosis. Methods The clinical data of children diagnosed with severe pertussis complicated by PCP from January 1, 2020 to December 31, 2023 were retrospectively analyzed. Results Five cases were enrolled, with one male and four females. The median age was 3.0(2.5-10.0) months, and the median hospital stay was 17.0(7.5-23.5) days, with three deaths recorded. All cases experienced apnea and hypoxemia, with 3 cases presented acute respiratory distress syndrome (ARDS), and 3 cases developed pulmonary hypertension and pertussis encephalopathy. The peak of leucocyte count were 43.8(25.2-87.8)×10⁹/L, which decreased to a post-treatment median of 8.5(5.0-36.5)×10⁹/L, and the median LDH was 942.0(466.5-1837.0) U/L. All 5 cases were treated with azithromycin before diagnosis of PCP, and co-trimoxazole combined with echinocandin were administered additionally for PCP, while 2 survivors were treated within 5 days. Conclusion PCP can occur in severe pertussis children without immunodeficiency, and there is a high risk of death when severe pertussis is complicated by PCP. When the routine treatment for severe pertussis in children has poor efficacy, it is necessary to be alert for Pneumocystis jirovecii infection. Early combined use of co-trimoxazole with echinocandin may improve prognosis.

Neural tube defects (NTDs) are a class of birth defects that can lead to death or disability. To further guide the prevention, screening, diagnosis, and management of NTDs, the Birth Defects Prevention and Molecular Genetics Branch of the China Maternal and Child Health Association and other organizations convened a panel of multidisciplinary experts for discussion. This panel referenced the latest domestic and international research progress and consensus guidelines, formulating the following expert consensus.

Objective To analyze the clinical characteristics and genetic variations in 8 children with metachromatic leukodystrophy (MLD), and to explore the correlation between genotype and clinical phenotype as well as the efficacy of allogeneic hematopoietic stem cell transplantation (allo-HSCT). Methods The study collected data from children diagnosed between 2013 and 2024, confirmed through whole exome sequencing, and found that all children had symptoms such as developmental delay, with ages at diagnosis ranging from 1 year and 3 months to 9 years and 6 months. Results Based on the age of onset and clinical manifestations, 4 cases were late infantile type, with 2 deaths; 4 cases were juvenile type, with a survival rate of 100%. Genetic sequencing revealed compound heterozygous variations in the ARSA gene, a total of 15 mutations, of which 3 were newly reported and all were deleterious variations. Three children received allo-HSCT treatment and all survived but with progression of symptoms. Conclusion MLD mainly manifests as central nervous system damage, and diagnosis should be confirmed in combination with clinical manifestations, ARSA enzyme activity, and genetic testing. Early diagnosis and treatment are crucial for improving prognosis, and allo-HSCT can increase survival rates, but the therapeutic effect is limited.

Objective To explore the risk factors of death from influenza A (H1N1)-associated encephalopathy (IAE) in children, and to provide evidence for early clinical diagnosis and intervention. Methods The clinical data of children with H1N1 IAE admitted to the hospital from January 2014 to December 2020 were retrospectively analyzed, and they were divided into the survival group and the death group according to prognosis. The risk factors associated with death in children with H1N1 IAE were analyzed by binary logistic regression. Results A total of 59 children (39 boys and 20 girls) with H1N1 IAE were included. The median age was 42 (21-73) months, and 66.1% (39/59) of the children were <5 years old. The median time between the onset of neurological symptoms and fever was 1 (0.5-2) days. Thirty-three patients (55.9%) had severe pneumonia and respiratory failure, and 1 of them had plastic bronchitis. Fifty-eight children were treated with oseltamivir. The median time from onset to use of anti-influenza drugs was 2 (1-4) days. Forty-eight patients were discharged from hospital with improvement and 11 died (18.6%). The median time from admission to death was 3 (1-5) days. Compared with the survival group, the death group presented higher incidences of consciousness disorder, respiratory failure, and brain herniation, a greater proportion of cases requiring mechanical ventilation treatment, a higher neutrophil count, elevated levels of procalcitonin, blood glucose, aspartate aminotransferase, alanine aminotransferase, and lactate dehydrogenase, a longer prothrombin time, a higher ratio of abnormal head CT findings, and a lower monocyte count. All the differences were statistically significant (P<0.05). The results of binary logistic regression analysis revealed that elevated neutrophil count and lactate dehydrogenase levels might be associated with the occurrence of death in children with H1N1 IAE (P<0.05). Conclusions For children with H1N1 IAE, the risk of death may increase with elevated neutrophil counts and lactate dehydrogenase levels.

Spinal muscular atrophy (SMA), a devastating hereditary neuromuscular disease, is often complicated by scoliosis. While scoliosis correction surgery is frequently indicated to correct spinal deformities, it is not without significant risks, including the potential for infection, hemorrhage, and neurological damage. Consequently, the management of perioperative medications is of paramount importance for the prevention and control of these complications, as well as for facilitating patient recovery. However, the distinctive physiological and pathological characteristics of SMA, coupled with the lack of standardized protocols, present considerable challenges in perioperative medication management. This review article offers an in-depth examination of the perioperative medication therapy management for patients with SMA undergoing scoliosis surgery. It aims to establish an evidence-based framework and provide a reference for the judicious use of drugs in clinical settings.

Febrile infection-related epilepsy syndrome (FIRES) is a rare and catastrophic epileptic encephalopathy that predominantly affects school-aged children.Characterized by a biphasic clinical course, FIRES manifests as rapid progression to refractory status epilepticus following a preceding febrile infection. The prognosis of FIRES is dismal: the acute-phase mortality rate is approximately 10%, and survivors often develop chronic refractory epilepsy and cognitive impairment. The pathogenesis of FIRES remains unclear, but neuroinflammation involving cytokines such as IL-6 may play a key role. Tocilizumab, a humanized monoclonal antibody targeting the IL-6 receptor, exerts anti-inflammatory effects by blocking IL-6 signaling. For FIRES patients unresponsive to conventional anti-seizure medications (ASMs), first-line immunotherapies, or ketogenic diet, tocilizumab is currently recommended as a second-line immunotherapeutic option. This review summarizes the background, mechanisms, clinical applications, safety profile, and challenges associated with tocilizumab in FIRES management, aiming to update clinicians on the latest advances in this field..

Objective To investigate the clinical efficacy of disease-modifying therapies (DMTs) in spinal muscular atrophy (SMA) patients with SMN1 gene compound heterozygous variants. Methods A retrospective analysis was performed on two cases with SMN1 compound heterozygous SMA, including clinical data, treatment approaches, and prognosis. Clinical findings were contextualized through a systematic literature review of analogous cases. Results Two SMA type I patients exhibited SMN1 compound heterozygous: a 4-year-old male (Patient 1) with exon 7 heterozygous deletion and c.188C>A variation, and a 1.7-year-old female (Patient 2) with exon 7 heterozygous deletion and c.683T>A variation. Patient 1 initiated rehabilitation at 7 months of age, received nusinersen treatment at 1 year and 6 months, added risdiplam as combination therapy at 3 years, and discontinued rehabilitation at 3 years and 10 months. Following DMTs, the patient showed slow progress in motor function, acquiring the ability to roll over to the side and sit with support, and is currently able to sit with assistance. Patient 2 started rehabilitation at 4 months of age, received risdiplam at 7 months, and switched to nusinersen treatment at 1 year and 5 months due to persistent darkening of skin color. The combination of DMTs and rehabilitation resulted in significant improvement in the patient's motor function, achieving milestones such as sitting independently and standing with support. Currently, she can stand independently for 7-8 seconds and take steps. Conclusion DMTs can improve the overall prognosis of children with compound heterozygous SMA and enhance their motor function.

Objective To report the use of tocilizumab in 2 cases of children with febrile infection-ralated epilepsy syndrome (FIRES), and provide a reference for its therapeutic application. Methods A retrospective analysis was conducted on the clinical manifestations, diagnostic and treatment processes, and therapeutic responses to tocilizumab in two FIRES patients admitted to the pediatric intensive care unit of our hospital in 2023, and the relevant literatures were reviewed. Results Neither patient responded to multiple antiepileptic drugs, anesthetics, ketogenic diet therapy, or first-line immunotherapy (high-dose methylprednisolone and high-dose intravenous immunoglobulin). Following second-line immunotherapy with tocilizumab, epileptic seizures were effectively controlled without adverse reactions. After 4-6 months of follow-up, one patient experienced recurrence of epileptic seizures. Conclusions Tocilizumab demonstrates efficacy as a second-line immunotherapy for FIRES, with good tolerability, and represents a promising treatment option.

Catecholaminergic polymorphic ventricular tachycardia is a hereditary cardiac channelopathy. Most cases are related to mutations in the RYR2 and CASQ2 genes, which severely disrupt the calcium homeostasis in cardiac cells. Excessive calcium release leads to delayed depolarization, ultimately leading to arrhythmia. This disease is seen in patients who experience syncope after intense exercise or stress-related emotions, as well as in patients with sudden cardiac arrest or even sudden cardiac death. It is mainly diagnosed through exercise stress testing and genetic testing. Standard treatment for CPVT relies on beta-blockers, while flucainide and left ventricular sympathetic nerve denervation are second-line treatments. Implantation of cardioverter defibrillators is suitable for patients at a high risk of sudden death, and some potential therapeutic interventions have also been identified. This review summarizes the genetics, pathophysiology, clinical features, diagnosis, and treatment strategies of CPVT, with the aim of providing clinical guidance.

Objective The pursuit of salvage treatment for refractory macrophage activation syndrome (MAS) associated with systemic juvenile idiopathic arthritis (sJIA) is of paramount importance. This paper aims to investigate the application options and therapeutic efficacy of ruxolitinib in the treatment of refractory sJIA-MAS. Methods A retrospective analysis was performed on the clinical data of a child with refractory sJIA-MAS and the outcome following the administration of ruxolitinib. Results An 11-year-old girl, diagnosed with sJIA for four years and having experienced two previous episodes of MAS, was admitted to the hospital due to active sJIA and developed MAS again during the treatment course. Despite three rounds of high-dose methylprednisolone pulse therapy in combination with cyclosporine A and tocilizumab (TCZ), her condition failed to improve, with persistent high fever and severe liver function impairment, among other abnormal laboratory indicators. After discontinuing TCZ and initiating ruxolitinib with an adjusted oral dose of 10 mg twice daily, the child's condition improved, enabling a smooth reduction of the hormone dosage. Ruxolitinib was discontinued after approximately three months of treatment, and there was no recurrence of the disease. Conclusion Ruxolitinib may potentially serve as a salvage treatment option for refractory sJIA-MAS.

Objective To investigate the types, clinical and imaging features and prognosis of chemotherapy-related cerebral lesion in acute lymphoblastic leukemia (ALL), so as to improve the clinicians' understanding of this kind of brain injury. Methods The clinical data of children with ALL who developed chemotherapy-related cerebral lesion after receiving chemotherapy alone from June 2015 to June 2023 were retrospectively analyzed. Results A total of 46 children (24 boys and 22 girls) with chemotherapy-related cerebral lesion were enrolled. The median onset age of ALL was 5.6(3.7-10.2) years old. The median age of children with cerebral lesion treated by chemotherapy was 6.6(4.7-10.3) years old. First cerebral lesion occurred 2.0(1.0-8.0) months after the first systemic chemotherapy, including 34 cases (73.9%) of encephalopathy, 9 cases (19.6%) of neurovascular complications, and 3 cases (6.5%) of isolated neurological symptoms. Neurological symptoms occurred in 38 children. Seizures were the most common (26 cases), followed by dizziness or headache, paralysis, visual disturbance, etc. The lesions in children with encephalopathy were mainly distributed around the lateral ventricles, semi-oval center, the parietal lobe, the occipital lobe, and the frontal lobe. The main neurovascular complications were intracranial hemorrhage and cerebral thrombosis, among which the superior sagittal sinus was the most common site of venous thrombosis.Among 38 patients with obvious neurological symptoms, 30 patients showed rapid improvement in clinical manifestations and had a good prognosis. At the follow-up of 22 months, 29 of the 32 children with neuroimaging abnormalities showed improvement after review. Conclusions The clinical and neuroimaging manifestations of ALL with chemotherapy-related cerebral lesion were diverse, and the overall prognosis was good. Few children had symptomatic epilepsy sequelae. Early neuroimaging is helpful for early detection and intervention of cerebral lesion and better optimization of ALL treatment.

An 43-month-old female baby, born in February 2021, got MLPA examination after birth because of the family history of SMA, and the results showed SMN1 gene exon 7, 8 homozygous deletions and two copies of SMN2 gene. The baby was admitted to the Department of Neurology of Shenzhen Children's Hospital for the first time in March 2021.Physical examination showed she had normal muscle strength and tone and good motor function, and therefore she was diagnosed with presymptomatic 5q SMA. Nusinersen intrathecal injection was given to the baby after all preparations were completed. She was subsequently multiple readmitted for the treatment and motor function assessment according to the medication plan. Up to now, the child has received a total of 14 treatments without interruption. And she was additionally treated with Risdiplam by her parents in January 2024. From the beginning until now, her breathing and eating functions have been normal, without scoliosis. Her motor development milestone is slightly delayed compared to normal children: head up stability and head up 90 degrees in prone position at 4-month, flip from supine position to prone position at 6-month, sit with hand support at 8-monthand sit alone at 9-month, walk by holding her one hand at 13-month, walk alone at 16-month, walk steadily at 19-month, play alone on a slide at 30-month, jump with both feet at 36-month, and her motor function score is lower than that of normal children. Currently, her various life skills and motor function performances are roughly similar to those of normal children of the same age.

Objective To analyze the clinical characteristics of pertussis in children and explore the independent risk factors for pertussis complicated by ordinary pneumonia and severe pneumonia. Methods A retrospective cohort study was conducted on the clinical data of 708 children hospitalized with pertussis in our hospital from August 2021 to June 2024. Patients were divided into three groups: pertussis without pneumonia (n=306), pertussis with ordinary pneumonia (n=316), and pertussis with severe pneumonia (n=86). Baseline clinical characteristics and laboratory indicators upon admission were compared. Multinomial logistic regression analysis (with the non-pneumonia group as the reference) was used to identify independent factors associated with ordinary and severe pneumonia. Results Among the 708 children, 400 were male (56.5%) and 308 were female (43.5%), with a median age of 4 months (1 month - 4 years), infants≤3 months accounted for 46.3%. The co-infection rate was 68.50%, with rhinovirus being the most common. Significant differences were found among the three groups in age, fever, underlying diseases, DTP vaccination status, WBC count, LYM% and Bordetella pertussis cycle threshold (BP-C_t) values (P<0.05). Post-hoc comparisons showed significant differences in these indicators for the severe pneumonia group compared to the other two groups, whereas no significant differences were observed between the ordinary pneumonia and non-pneumonia groups. Multinomial logistic regression analysis showed no statistically significant independent predictors for distinguishing ordinary pneumonia from non-pneumonia (P>0.05). However, for severe pneumonia, fever (OR=10.601, 95%CI: 5.235-21.466), underlying diseases (OR=5.576, 95%CI: 2.651-11.726), low BP-C_t value (high bacterial load) (OR=5.174, 95%CI: 1.911-14.005), and WBC>30×10⁹/L (OR=3.371, 95%CI: 1.520-7.474) were identified as independent risk factors. Conclusion Pneumonia is a common complication in hospitalized children with pertussis. While ordinary pneumonia is clinically difficult to distinguish from uncomplicated pertussis in the early stages, fever, underlying diseases, high bacterial load (low BP-C_t), and hyperleukocytosis serve as early warning indicators for the progression to severe pneumonia.

Objective To analyze the genetic polymorphism of antigenic genes and antimicrobial resistance phenotypes of Bordetella pertussis (BP) in Fuzhou and Youxi, Fujian Province, China, and to provide scientific evidence for optimizing vaccination strategies and antibiotic use. Methods A total of 336 nasopharyngeal swab specimens from suspected pertussis cases were collected from both regions in 2024. Bacterial culture, isolation, and identification were performed. Polymorphism and mutations were determined by analyzing seven antigenic genes (ptxP, ptxA, ptxC, prn, fim3, fim2, tcfA) and the 23S rRNA A2047 locus. A maximum-likelihood phylogenetic tree was constructed based on core-genome single nucleotide polymorphisms (cgSNPs). The minimum inhibitory concentrations (MICs) of macrolides, sulfonamides, and β-lactams were determined using the E-test method. Results Twenty-nine BP clinical isolates were successfully obtained (8.6%, 29/336). Antigenic gene profiling revealed that the predominant genotype was ptxP3/prn2/ptxC1/ptxA1/fim2-1/fim3-1/tcfA2 (55.2%, 16/29), with ptxP3/prn2/ptxA1 strains accounting for 72.4% (21/29). Four prn150 mutant strains were identified (13.8%, 4/29). Phylogenetic analysis demonstrated that the vaccine strain CS formed an independent evolutionary branch (Cluster A). The 2024 Fujian isolates exhibited significant genetic divergence from pre-2020 domestic strains, forming two major clusters: Cluster B (ptxP3/prn2/ptxA1, containing most Fujian isolates) and Cluster C (ptxP1/prn1/ptxA1, comprising historical isolates). The 23S rRNA A2047G mutation conferring macrolide resistance was detected in all isolates, with MICs > 90 mg/L. MICs for TMP-SMX ranged from 0.005 to 0.45 mg/L. MICs for β-lactams (ceftriaxone, cefotaxime, cefoperazone/sulbactam) ranged from 0.004 to 0.64 mg/L. Conclusion The epidemic strains of BP circulating in Fujian exhibit distinct antigenic gene evolutionary patterns and widespread macrolide resistance. These findings highlight the urgent need to strengthen molecular genotyping-based surveillance of vaccine components and optimize antimicrobial therapy based on susceptibility profiles.

Objective To investigate the clinical characteristics and prognostic factors of children with relapsed acute lymphoblastic leukemia (ALL). Methods A total of 458 newly diagnosed ALL children who treated with the Chinese Children's Leukemia Group (CCLG) protocol at hospital between February 2006 and December 2019 were selected. Results The overall relapse rate of childhod ALL in this center was 16.6% (76/458). The mortality rate among relapsed ALL children was 57.9% (44/76), and the 5-year overall survival (OS) rate for relapsed ALL children was 38.6% ± 5.9%. Grouped by time to relapse, the cohort included 26 cases of very early relapse, 30 cases of early relapse, and 20 cases of late relapse. There was a statistically significant difference in the 5-year overall survival rate (OS) among the three groups(P<0.001). When categorized by relapse site, 57 cases involved isolated bone marrow relapse, 12 cases had extramedullary relapse, and 7 cases exhibited combined medullary/extramedullary relapse. There was a statistically significant difference in the 5-year OS rate among the three groups (P<0.05). Among the 76 relapsed children, 11 discontinued treatment, while 65 received retreatment. Among them, 14 failed to achieve a second complete remission (CR2), whereas 51 attained CR2. There was a statistically significant difference in the 5-year OS rate between the two groups (P<0.001). Based on post-relapse treatment modalities,the patients were divided into allogeneic hematopoietic stem cell transplantation (Allo-HSCT) group (22 cases, 33.8%), chimeric antigen receptor T-cell immunotherapy (CART) group (8 cases, 12.3%), CAR-T combined with Allo-HSCT group (14 cases, 21.5%), and chemotherapy and/or targeted therapy group (21 cases, 32.2%). There was a statistically significant difference in the 5-year OS rate among the groups (P<0.001). Univariate prognostic analysis revealed that initial white blood cell count>100×10⁹/L, initial risk stratification, relapse time, relapse site, post-relapse risk stratification, post-relapse treatment modality, and failure to achieve CR2 were independent risk factors affecting the prognosis of relapsed ALL children (P<0.05). Multivariate analysis using the Cox regression model identified very early relapse and failure to attain CR2 after relapse as independent risk factors for poor prognosis in relapsed ALL children (P<0.05), while post-relapse treatment with CAR-T bridging to allogeneic hematopoietic stem cell transplantation (Allo-HSCT) was a protective prognostic factor. Conclusions The predominant relapse pattern in our center was early recurrence, with bone marrow being the main relapse site. Multivariate analysis revealed that very early relapse and failure to achieve CR2 were independent adverse prognostic factors (P<0.05). CART combined with Allo-HSCT significantly improved outcomes in children with relapsed ALL.

Pertussis is highly contagious. With the increase in the incidence rate of pertussis in recent years, pertussis outbreaks have even occurred in some areas. The recurrence of pertussis has attracted widespread attention, among which severe pertussis poses a great threat to the life and health of infants and young children. Elevated white blood cell count, pulmonary hypertension, non-vaccination and mixed infection are all associated with severe pertussis. Due to the lack of typical clinical symptoms and signs in infants and young children in the early stage, they often fail to receive timely diagnosis and treatment, which can easily lead to severe pertussis. Therefore, it is crucial to make an accurate diagnosis and provide timely treatment for pertussis. This article reviews the pathogenesis, treatment and prevention of severe pertussis in infants and young children, in order to deepen the clinician's understanding of severe pertussis and provide reference for the prevention and treatment of severe pertussis.

Duchenne muscular dystrophy (DMD) is a severe X-linked recessive neuromuscular disorder characterized by progressive muscle weakness and eventual fatality. In recent years, more and more gene therapies have emerged, and comprehensive care throughout the disease course remains crucial for maximizing patient’s survival and quality of life. This consensus, developed through literature review, expert consultations, and clinical experience, provides guidance for managing following aspects of care in non-ambulatory DMD patients, including respiratory, cardiac, rehabilitation, skeletal, nutritional, digestive, dermatological, cognitive, and psychological care. This aims to provide a scientific and practical support for families caring for non-ambulatory DMD patients.

Objective This study aims to investigate the clinical characteristics and risk factors of invasive fungal disease (IFD) following allogeneic hematopoietic stem cell transplantation (allo-HSCT) in children with transfusion-dependent thalassemia (TDT). Methods The clinical data of 424 children with TDT who received allo-HSCT from January 2021 to December 2022 were retrospectively analyzed, and the influencing factors of IFD after allo-HSCT were analyzed. Results A total of 424 TDT children undergoing allo-HSCT were included, 261 (61.6%) boys and 163(38.4%) girls, with a median age of 8.0 (5.0-11.0) years. Among them, there were 278 cases of haploidentical transplantation, 116 cases of matched or well matched related transplantation, and 30 cases of matched or well matched unrelated transplantation. All transplant patients received primary antifungal prophylaxis. A total of 30 patients (7.1%, 20 boys and 10 girls) had IFD, 25 patients (83.3%) were probable IFD and 5 (16.7%) were proven IFD. The median occurrence time of IFD was 39.0 (23.5-85.8) days after transplantation. The lung was the most common site of infection (24 cases, 80.0%). Cough (15 cases, 50.0%) and fever (10 cases, 33.3%) were the main symptoms. The pulmonary imaging findings were atypical (14 cases, 46.7%). The main fungal pathogen was Aspergillus (19 cases, 63.3%). Co-infection was detected in 17 cases (56.7%), and co-virus infection was most common. The median follow-up time was 16.0 (9.0-21.8) months, and the overall survival (OS) rate was (99.3±0.01) %. The OS rates of non-IFD group and IFD group were (99.7±0.003) % and (93.3±0.06)%, respectively, and the difference between the two groups was statistically significant (P<0.001). The results of binary logistic regression analysis indicated that poor graft function or graft failure, acute graft-versus-host disease (aGVHD) and antifungal prophylaxis of non-posaconazole were independent risk factors for development of IFD after allo-HSCT (P<0.05). Conclusions TDT children undergoing allo-HSCT and receiving primary fungal prophylaxis exhibited a low incidence of IFD, and IFD was associated with higher risk of death. Patients with a history of poor graft function/ graft failure, aGVHD or those receiving non-posaconazole prophylaxis faced a greater risk of developing IFD.

Objective To investigate the clinical features, diagnosis, treatment, and prognosis of the rare complication of infectious endocarditis (IE) in children with Mycoplasma pneumoniae pneumonia (MPP), aiming to enhance clinicians' understanding and facilitate early diagnosis of this condition. Methods A retrospective analysis was conducted on the clinical data of 5 children with MPP complicated by IE admitted to our hospital from January 2023 to November 2024. The analysis included clinical manifestations, laboratory tests, imaging findings, etiological test results, treatment, and follow-up information. Results The median age of onset was 9 years (5-9.5) years, with a male-to-female ratio of 3:2. All patients presented with fever and cough; only one exhibited concomitant subxiphoid pain. Median duration of fever was 12 (9.5-15) days, and vegetations were detected on echocardiography at a median of 10 (8-12) days after disease onset. Elevated D-dimer levels 5.09 (4.35-7.9) μg/mL and fibrin degradation products 10.56 (7.2-24.71) mg/L indicated marked hypercoagulability, while increased IL-6 55.45 (33.02-95.56) pg/mL and lactate dehydrogenase 746 (568.45-838.9) U/L suggested significant systemic inflammation and tissue injury. All children tested positive for MP nucleic acid in respiratory specimens; however, only one had MP DNA detected in blood via metagenomic next-generation sequencing (mNGS). All underwent surgical excision of vegetations, with histopathological examination confirming the diagnosis of IE. Postoperatively, all received antimicrobial therapy and anticoagulation. Among them, three patients with confirmed pulmonary embolism continued long-term anticoagulation for 1-6 months post-discharge. Follow-up echocardiography revealed no vegetation recurrence, and no patient reported symptoms such as dyspnea, chest pain, or wheezing during the monitoring period. Conclusion MPP-related IE presents with nonspecific and often insidious early manifestations, posing challenges for timely diagnosis. In pediatric patients with MPP and evidence of hypercoagulability, routine echocardiographic screening is strongly recommended to enable early detection of IE and prevent diagnostic delays. With prompt diagnosis and comprehensive management, the prognosis is favorable.

Objective To characterize the clinical features and independent risk factors for plastic bronchitis (PB) in children with pneumonia, and to develop and validate a clinically applicable nomogram for early risk stratification. Methods A retrospective analysis was conducted on the data of children hospitalized from January 2018 to January 2025, who were diagnosed with pneumonia and underwent bronchoscopy. Stratified sampling was used to divide the data into a training set and a test set at a ratio of 7∶3, ensuring that the PB incidence rate in both sets was approximately 7.0%. After collinearity analysis, variables were selected using LASSO combined with logistic regression, and then included in weighted logistic regression to establish a prediction model. A nomogram was constructed, and the model was validated through receiver operating characteristic (ROC) curves, calibration curves, and decision curve analysis (DCA) curves. Results Among 2697 eligible children, 190 (7.0%) developed PB. Bootstrap aralysis of the weighted cogistic regression model identified nine independent predictors: asthma history (OR=1.67, 95% CI: 1.24-2.15, P<0.001), tachypnea (OR=2.01, 95% CI: 1.54-2.64, P<0.001), fever duration (OR=4.00, 95% CI: 3.24-5.83, P<0.001), pleural effusion (OR=1.53, 95% CI: 1.19-1.94, P<0.001), airway obstruction on CT reconstruction (OR=2.42, 95% CI: 1.77-3.87, P<0.001), neutrophil-to-lymphocyte ratio (NLR) (OR=1.63, 95% CI: 1.28-2.25, P<0.001), platelet count (OR=0.54, 95% CI: 0.33-0.72, P<0.001), fibrinogen (OR=1.48, 95% CI: 1.12-2.08, P=0.004), and D-dimer (OR=1.46, 95% CI: 1.20-1.80, P=0.006). The nomogram demonstrated good predictive performance in the test set with an AUC of =0.921,（95% CI: 0.88-0.96; P<0.05). Conclusion PB is a rare but severe complication of pediatric pneumonia, associated with distinct and quantifiable clinical and laboratory features. The validated nomogram provides a practical, interpretable, and statistically robust tool for early identification of high-risk children—enabling timely bronchoscopic evaluation and intervention.

Objective To review the clinical features and genetic test results of a case of Shwachman-Diamond syndrome caused by SBDS gene mutation but misdiagnosed as idiopathic short stature. Methods Clinical data, laboratory and imaging results and genetic data were collected and followed up. Results The patient was a boy aged 10 years and 11 months. Clinical manifestations included short stature, anemia and thrombocytopenia were indicated by laboratory examination, and the peak value of growth hormone stimulation test was 31 μg/L. Trio whole-exome sequencing revealed the presence of c.258+2T>C and c.286T>C complex heterozygous mutation, inherited from the proband's mother and father respectively; His younger brother also carried the same SBDS gene complex heterozygous mutations and exhibited similar clinical features, including short stature, anemia, thrombocytopenia, and leukopenia. Notably, the c.286T>C has not been previously reported in the literature and represents a novel mutation site. Growth hormone treatment for half a year, the height increased by 2.1cm, indicating poor therapeutic efficacy. Regular outpatient follow-up shows that there is still anemia and thrombocytopenia. Conclusion presenting with short stature complicated by bone marrow failure should be evaluated for Shwachman-Diamond syndrome, and genetic examination should be improved. The c.286T>C mutation identified in this case is a novel mutation site. In this instance, growth hormone therapy proved ineffective.

A male infant, aged 1 month and 24 days, was diagnosed with immune thrombocytopenia (ITP) and autoimmune hemolytic anemia (AIHA). Whole-exome gene sequencing revealed compound heterozygous mutations of LRBA, confirming a diagnosis of LRBA deficiency with an ALPS-like phenotype. Despite treatments with corticosteroids, neonatal-like exchange transfusions, rituximab, and sirolimus, the ALPS-like symptoms persisted and were complicated by pulmonary infection and cytomegalovirus viremia. At 3 months of age, the patient underwent haploidentical hematopoietic stem cell transplantation (HSCT) using bone marrow from his father. Post-transplantation, successful engraftment of platelets and granulocytes was achieved, infections were controlled, and no severe complications occurred. Three months after transplantation, the infant developed grade Ⅱ skin graft-versus-host disease (GVHD), which resolved completely following treatment. Currently, more than 8 months after transplantation, the patient remains healthy with normalized immune function and no recurrence of the ALPS-like phenotype. This article retrospectively analyzed a case of a young patient with LRBA deficiency and an ALPS-like phenotype, evaluating the efficacy and safety of HSCT using bone marrow-derived hematopoietic stem cells from a haploidentical father. The study indicates that for children unresponsive to first-line treatments, HSCT should be considered as early as possible. In the absence of a fully matched donor, haploidentical donors and bone marrow-derived stem cells represent viable options that may enhance engraftment, reduce GVHD and infection risks, and improve transplantation outcomes. Further studies are required to optimize the treatment protocol and improve prognosis.

Objective To characterize the clinical and radiological features and prognosis of children with bocavirus pneumonia complicated by plastic bronchitis. Methods A retrospective analysis was conducted on the clinical data and follow-up results of 13 children diagnosed with bocavirus pneumonia complicated with plastic bronchitis in our hospital from January 2022 to January 2024. Results A total of 13 cases were included, including 7 males and 6 females, with a median age of 3.0 (1.0-5.0) years. Eight cases (61.5%) were hospitalized during summer. All patients presented with fever and cough; 7 (53.8%) had wheezing, and 3 exhibited tachypnea. The mean duration of fever was 3.92±1.26 days, with a peak temperature of 39.24±0.40 °C. Extrapolmonary complications included one case of toxic encephalopathy and one of erythema multiforme; no other organ dysfunction was observed. Laboratory findings revealed mild elevations in C-reactive protein (CRP) in 9 patients, with PCT and LDH were slightly elevated. Chest CT predominantly showed inflammatory consolidation, with atelectasis in 9 cases (69.2%) and small pleural effusions in 4 (30.8%). Bronchoalveolar lavage fluid analysis demonstrated marked eosinophilia. All patients underwent bronchoscopic removal of intraluminal casts and improved clinically, with a median hospital stay of 5.0 (4.5-6.5) days. During follow-up, one child developed recurrent wheezing and was subsequently diagnosed with asthma; the remaining patients had favorable outcomes. Conclusion Bocavirus pneumonia complicated by plastic bronchitis in children are more frequently observed during the summer months. The disease commonly presents with high fever, cough, and wheezing, with minimal elevation in inflammatory markers such as CRP, PCT, and LDH. Radiologically, consolidation and atelectasis are the predominant findings. The disease course is relatively short, and severe multi-organ involvement is uncommon. Overall, the prognosis is favorable.

Objective To explore the independent risk factors of severe refractory Mycoplasma pneumoniae pneumonia (SRMPP) complicated with bronchitis obliterans in children. Methods The clinical data of children with SRMPP admitted to the Department of Pediatrics from October 2021 to October 2023 were retrospectively analyzed. All patients were divided into two groups: one group had the sequelae of bronchitis obliterans (occluded group) and the other group had not bronchitis obliterans (non-occluded group), and the differences in clinical characteristics between the two groups were compared. Multivariate logistic regression was used to analyze the independent risk factors of SRMPP complicated with bronchiolitis obliterans, and receiver operating characteristic (ROC) curve was used to analyze the predictive value of each factor for SRMPP complicated with bronchiolitis obliterans. Results A total of 110 SRMPP children (60 boys and 50 girls) with a median age of 6.0 (4.0-8.0) years were included, 40 of whom were complicated with obliterated bronchitis. Multivariate logistic regression analysis showed that increased D-dimer level and plastic mucus plugs were independent risk factors for SRMPP complicated with bronchiolitis obliterans (P<0.05), while high levels of prealbumin were independent protective factor (P<0.05). ROC curve analysis showed that the areas under the ROC curve (AUC) of D-dimer increase, prealbumin decrease and plastic mucus plugs in predicting SRMPP complicated with bronchitis obliterans were 0.69, 0.74 and 0.70, respectively. Conclusions For SRMPP children with serum prealbumin level≤13.2 mg/dL,plasma D-dimer level≥1.85 mg/L, and plastic mucus plug formation, it is necessary to be alert to the occurrence of bronchitis obliterans.

Objective To investigate the clinical features, therapeutic strategies, and outcomes in pediatric patients with severe Mycoplasma pneumoniae pneumonia (SMPP) complicated by intracardiac thrombosis. Methods A retrospective analysis was performed on the clinical records of 19 children diagnosed with SMPP and concurrent intracardiac thrombosis admitted between January 2020 and May 2024. Results Among the 19 children, 13 were boys and 6 were girls, with a median age of 8 (7-10) years. All children presented with fever and cough, and 11 (57.89%) exhibited additional extracardiac thrombotic events. Laboratory findings revealed elevated levels of C-reactive protein 58.91 (25.62-98.19) mg/L, lactate dehydrogenase 559 (442-791) U/L, and D - dimer 6.06 (3.44-7.52) mg/L. The median time from symptom onset to diagnosis was 12 (10-17) days, with all thrombi identified via echocardiography; the majority (n=14, 73.69%) were located in the right ventricle. Six patients underwent immediate surgical intervention due to hemodynamic instability (shock), large thrombus size (diameter>30 mm), or presence of multiple mobile thrombi with high embolic risk. Thirteen patients initially received anticoagulation therapy; seven showed marked reduction in thrombus burden, while one experienced embolization during early treatment and five required conversion to surgical thrombectomy due to inadequate response. During follow-up (3-5 months), none of the 11 surgically treated patients developed new thromboses or cardiac complications. Among the 8 non-surgical cases, 6 achieved complete thrombus resolution within 3 months, while one patient was lost to follow-up and one experienced embolization.Conclusion Pediatric SMPP with intracardiac thrombosis presents with nonspecific symptoms and carries a significant risk of systemic embolization. Dynamic monitoring of echocardiography and D-dimer levels during the first 1-2 weeks of illness is recommended for early detection. Prompt anticoagulant or surgical management is associated with favorable outcomes; however, therapeutic decisions should be individualized based on thrombus morphology, hemodynamic status, and embolic risk.

Objective To investigate the clinical characteristics and risk factors for plastic bronchitis (PB) in children with macrolide-resistant Mycoplasma pneumoniae pneumonia (MRMPP). Methods A retrospective analysis was conducted on 156 children hospitalized with MRMPP in the Department of Respiratory between October 2023 and January 2024. Based on electronic bronchoscopy findings, patients were divided into a PB group (n=44) and a non-PB group (n=112). Clinical characteristics and laboratory indicators were compared between the two groups. Continuous variables showing statistical significance in univariate analysis were analyzed using receiver operating characteristic (ROC) curves to determine optimal cut-off values, which were then used to convert these variables into categorical variables. Independent risk factors were identified via multivariate binary logistic regression analysis. Results Univariate analysis revealed that the PB group had significantly higher incidences of pleural effusion, severe pneumonia, oxygen therapy support, as well as significantly longer hospitalization duration, older age, longer fever duration, and higher levels of C-reactive protein, procalcitonin, D-dimer, lactate dehydrogenase (LDH), and M. pneumoniae DNA in bronchoalveolar lavage fluid (BALF) compared to the non-PB group (all P<0.05). ROC curve analysis determined the optimal cut-off values for D-dimer, LDH, and BALF M. pneumoniae DNA to be 1.655 mg/L, 364.5 IU/mL, and 428500 copies/mL, respectively. Multivariate logistic regression analysis identified D-dimer>1.655 mg/L (OR=14.002, 95% CI: 4.063-48.251), LDH>364.5 IU/mL (OR=6.865, 95% CI: 2.251-20.933), and BALF M. pneumoniae DNA>428500 copies/mL (OR=12.306, 95% CI: 3.586-42.236) as independent risk factors for PB in MRMPP (all P<0.001). Conclusion Elevated levels of D-dimer, LDH, and M. pneumoniae DNA in BALF are independent risk factors for PB in children with MRMPP. Monitoring these indicators is crucial for the early identification of children at risk of developing PB.

Objective The aim of this study was to explore the clinical manifestations, genetic copy number variations, therapeutic responses, and prognostic factors associated with 17p13.3 microdeletion syndrome in pediatric patients. Methods A retrospective analysis was conducted on the clinical profiles, whole exome sequencing data, and therapeutic outcomes of five pediatric cases diagnosed with 17p13.3 microdeletion syndrome. Results All 5 patients presented with short stature, and those in cases 3 to 5 also exhibited cardiovascular abnormalities. Whole exome sequencing identified a 433kb to 1536kb deletion within the 17p13.3 chromosomal region, predominantly affecting the YWHAE and CRK genes without implicating the PAFAH1B1 gene. Following the exclusion of contraindications, cases 1 to 4 were administered recombinant human growth hormone (rhGH). While the initial response to rhGH treatment was promising with improvements in height, the long-term efficacy was suboptimal. Cases 4 and 5 underwent surgical correction for congenital heart disease as indicated. Conclusion Deletion of 17p13.3 can result in 17p13.3 microdeletion syndrome. Whole exome sequencing is instrumental in the prompt diagnosis of children exhibiting signs of congenital heart disease and/or short stature. Timely and appropriate interventions for cardiovascular and height-related issues are essential for improving the overall prognosis of affected children.

Objective To explore the efficacy and prognostic factors of allogeneic hematopoietic stem cell transplantation (allo-HSCT) in the treatment of high-risk acute T-lymphoblastic leukemia (T-ALL) in children, compare the efficacy differences of different treatment regimens, and explore the influence of pretreatment regimens on allo-HSCT in T-ALL patients. To compare the effects of two conditioning regimens, one containing cladribine (Cla) and the other without (fludarabine, Flu), in umbilical cord blood transplantation (UCBT), as well as the differences between this and the peripheral blood hematopoietic stem cell transplantation (PBSCT) based on total body irradiation (TBI). Methods A retrospective analysis was conducted on the clinical data of children with high-risk T-ALL who underwent allo-HSCT from February 2017 to March 2023. The Kaplan-Meier method was used to analyze the 3-year overall survival (OS) rate, leukemia-free survival (LFS) rate, cumulative incidence of chronic graft-versus-host disease (cGVHD), cumulative incidence of relapse (CIR), and cumulative transplant-related mortality (TRM) of the children. The Log-rank test was used to analyze the factors influencing the prognosis of high-risk T-ALL children. The differences in pre-treatment related toxic reactions, post-transplant infections, and 3-year OS rates among different pre-treatment regimens (UCBT-Cla group, UCBT-Flu group, and PBSCT-TBI group) were compared. Results Among the 23 children with high-risk T-ALL, 19 were boys (82.6%) and 4 were girls (17.4%), with a median age of 9.5 (1.9-14) years, and the median time from diagnosis to transplantation was 7.5 (6-29) months. Among the 23 high-risk T-ALL children, neutrophil engraftment was successfully achieved in all cases. The median time to engraftment was 18 (12 - 38) days for UCBT patients and 12 (11 - 15) days for PBSCT patients. The median time to platelet engraftment was 36 (27-61) days in UCBT recipients, with one case failing to achieve platelet engraftment; all PBSCT recipients achieved platelet engraftment, with a median time of 13 (9-25) days. Five children (21.7%) experienced grade ≥3 conditioning-related toxicities (primarily manifested as gastrointestinal reactions, oral mucositis, and infections), 14 had grade 1-2 toxicities, and 4 had no toxicities. No deaths occurred within 100 days post-transplantation among the 23 children. The incidence of grade Ⅲ-Ⅳ aGVHD was 26.1% (6/23). The 3-year cumulative incidence of cGVHD was (27.15 ± 13.33) %. Eighteen children (78.3%) experienced infections of varying severity and locations after transplantation, primarily pneumonia (10 cases), BK polyomavirus-associated hemorrhagic cystitis (7 cases), and invasive fungal infections (6 cases). The median post-transplant follow-up time was 34 (5-92) months. LFS was observed in 18 children, and 5 children died. The 3-year OS and LFS rate were both (77.5 ± 8.9) %. The 3-year CIR and TRM were (13.04 ± 7.19) % and (9.21 ± 6.4)%, respectively. The neutrophil and platelet engraftment times in the PBSCT-TBI group were significantly shorter than those in the UCBT-Cla and UCBT-Flu groups (P<0.05). No statistically significant differences were observed among the UCBT-Cla, UCBT-Flu, and PBSCT-TBI groups in terms of conditioning-related toxicities, incidence of aGVHD and cGVHD, post-transplant infections, or 3-year OS rate (P>0.05). The log-rank test revealed that central nervous system (CNS) involvement at initial diagnosis may be a high-risk factor affecting the overall survival (OS) of children with high-risk T-ALL (P<0.05). Age≥10 years, CNS involvement at initial diagnosis, pre-transplant disease status in second complete remission (CR2), and meeting the criteria for refractory leukemia may be high-risk factors for post-transplant relapse in high-risk T-ALL (P<0.05). Conclusions Allo-HSCT can effectively improve long-term survival in children with high-risk T-ALL and is associated with low TRM. CNS involvement at initial diagnosis is an important marker of poor prognosis. The cla-containing conditioning regimen in UCBT demonstrates potential for reducing relapse rates and improving survival outcomes. The Cla-containing conditioning regimen demonstrates potential in UCBT to reduce relapse rates and improve survival. The UCBT-Cla regimen may be a promising alternative option worthy of further investigation.

Objective To investigate the clinical and genetic characteristics of PRKAG2 cardiac syndrome (PCS) in Chinese pediatric patients. Methods A retrospective analysis was conducted on the clinical data and genetic testing results of patients diagnosed with PCS at Shanghai Children's Medical Center from September 1999 to October 2022. Results Seven pediatric patients were included in this study, six males and one female, with a median age of onset of 9.0 (3.0-12.0) years. Five patients had varying degrees of left ventricular hypertrophy, four had ventricular preexcitation, two had atrioventricular conduction block, and one experienced sinus arrest.Six variants in the PRKAG2 gene were identified among the seven patients, including two novel mutations (F293V, Q337H). During a median follow-up of 3.0 (2.0-3.8)years, one patient progressed to end-stage heart failure and underwent heart transplantation, one received a pacemaker due to complete atrioventricular block, and two underwent septal reduction therapy for left ventricular outflow obstruction (septal myectomy or septal radiofrequency ablation, respectively). Conclusions PCS is a rare cause of hypertrophic cardiomyopathy in children, often associated with conduction system abnormalities. It is crucial to consider screening for PCS in pediatric patients with hypertrophic cardiomyopathy who present with pre-excitation syndrome or bradyarrhythmias.

Objective To investigate the clinical and genetic characteristics of children with epilepsy caused by variations of the KCNQ2 gene (OMIM #602235). Methods The clinical data of 24 children with KCNQ2 gene variants (NM_172107) detected by whole-exome sequencing (WES) from October 2018 to November 2022 were analyzed, and the genotypic characteristics and treatment were analyzed. Results A total of 24 children (14 boys and 10 girls) with epilepsy caused by KCNQ2 gene variations were included. The age of the first seizure in these children ranged from 17 hours after birth to 5 years old. Among them, 16 children (66.7%) were younger than 6 months. According to the clinical prognosis, there were 1 case of benign familial neonatal epilepsy (BFNE), 6 cases of benign familial infantile epilepsy (BFIE), 4 cases of self-limited epilepsy syndrome that could not be classified, and 13 cases of KCNQ2-related developmental and epileptic encephalopathy (KCNQ2-DEE). The main genetic variation was missense mutation (62.5%), and 7 new KCNQ2 mutation sites were found. Among them, c.1411C>T was evaluated as pathogenic, c.602G>C, c.1031G>A, c.2159_2173del (p.720_725delinsR) was evaluated as likely pathogenic. The median follow-up time of the 24 patients was 40 months. 13 patients had varying degrees of developmental delay in KCNQ2-DEE, and the remaining 11 patients had good overall prognosis and normal cognitive development. Conclusions The age of seizures associated with KCNQ2 variation is mainly distributed in the neonatal period and early infancy. The prognosis of KCNQ2-DEE is poor. It is recommended that genetic testing should be performed as early as possible for the diagnosis of unexplained seizures in infancy.

MUT-type methylmalonic acidemia (MMA) is an autosomal monogenic genetic disorder caused by mutations in the MMUT gene, which can involve multiple organ damage, mainly brain damage, and has a high mortality rate. Diet therapy, levocarnitine and vitamin B₁₂ therapy are the main treatment method for MUT-type MMA, and some severe patients need liver and kidney transplantation, but the treatment effect and prognosis are poor. Gene therapy for MUT-type MMA using various vectors in animal model and phase 1/2 study are underway. Gene therapy in MUT-type MMA clinical trials is still in an early stage and provides a new treatment method. This article reviews the current status of gene therapy research for MUT-type MMA and aims to guide future research.

Objective Based on the body mass index (BMI) classification of Chinese population and the latest recommended range of gestational weight gain by the Chinese Nutrition Society, this study aims to evaluate the pre-pregnancy BMI and gestational weight gain status of pregnant women and further explored explore their influence on neonatal birth outcomes. Methods A total of 26 422 pregnant women who received regular prenatal examination were selected from January 2018 to December 2019 were included. The pre-pregnancy BMI, gestational weight gain of the study subjects, and their demographic characteristics among subgroups were described. Univariate and multivariate binary logistic regression analyses were employed to investigate the relationships between pre-pregnancy BMI and gestational weight gain and various neonatal outcomes (such as macrosomia, low birth weight, preterm birth, and asphyxia). Finally, a heatmap was utilized to explore the combined effect of pre-pregnancy BMI and gestational weight gain on fetal weight. Result The study found that the proportions of underweight and overweight/obese pregnant women were 13.8% and 14.7%, respectively, indicating a similar distribution. More than 50% of the participants experienced abnormal gestational weight gain. Insufficient gestational weight gain was associated with an increased risk of preterm birth. A low pre-pregnancy BMI or insufficient gestational weight gain elevated the risk of small for gestational age (SGA), whereas a high pre-pregnancy BMI or excessive gestational weight gain increased the risk of large for gestational age (LGA) and dystocia (cesarean section, forceps/vacuum extraction) (P<0.05). Multivariate analysis did not reveal a significant association between pre-pregnancy BMI, gestational weight gain, and neonatal asphyxia (P>0.05). Conclusion Abnormal gestational weight gain remains a significant issue among pregnant women, suggesting that obstetric healthcare providers and society need to strengthen the dissemination of pregnancy knowledge and weight management for pregnant women. In clinical practice, heatmaps can be utilized to assess individual risks of abnormal fetal weight and dystocia, thereby reducing adverse outcomes.

Objective To observe the efficacy and prognosis of hematopoietic stem cell transplantation (HSCT) in the treatment of inherited bone marrow failure syndromes (IBMFs) in children. Methods The clinical data of children with IBMFs who underwent HSCT in the First Affiliated Hospital of Zhengzhou University from January 2019 to November 2023 were collected, and their clinical characteristics, transplantation preconditioning regimen, hematopoietic reconstruction, and prognosis were analyzed. Results A total of 18 children with IBMFs were enrolled, including 7 cases of Fanconi anemia (FA), 5 cases of dyskeratosis congenita (DKC), 3 cases of Diamond-Blackfan anemia (DBA), 2 cases of congenital amegakaryocytic thrombocytopenia (CAMT) and 1 case of severe congenital neutropenia (SCN). There were 10 boys and 8 girls, with a median age of 8.2 (1.2-14.0) years. The median time of neutrophil engraftment was 11 (9-21) days, and the median time of platelet engraftment was 13 (10-30) days. During the median follow-up of 10.6 （1.0-62.9） months, the bone marrow of 18 patients was completely chimeric. A total of 8 patients developed acute graft-versus-host disease (GVHD), including 2 cases of grade Ⅳ, 2 cases of grade Ⅲ, 1 case of grade Ⅱ, and 3 cases of grade Ⅰ. Two children suffered from mild chronic GVHD. Fifteen patients survived and 3 died. Two children with FA developed transplant-related thrombotic microangiopathy, and they were treated with plasma exchange or defibrotide with poor results, and all died of multiple organ failure. One CAMT patient developed a severe pulmonary infection 28 days after transplantation, and his condition progressed rapidly, ultimately leading to respiratory failure. Conclusions HSCT is an effective method for the treatment of IBMFs in children. According to the different diseases of children with IBMFS, the appropriate preconditioning regimen can be selected to obtain a better curative effect and prognosis.

The National Health Commission and the State Administration for Market Regulation jointly promulgated the "National Food Safety Standard: General Standard for Infant Formula for Special Medical Purposes" (GB 25596-2025, hereinafter referred to as the "New Standard") on March 16, 2025. The New Standard introduces comprehensive optimizations regarding the reference ranges, content requirements, and testing methods for macronutrients (proteins, carbohydrates, and fats), vitamins, minerals, and other optional components. Additionally, it expands the product categories from the original 6 to 13 types, with corresponding technical specifications established for each category. Currently, all approved infant formula products for special medical purposes (hereinafter referred to as "FSMP for infants") in the market are manufactured in compliance with the 2010 version of the standard (GB 25596-2010, "Old Standard"). This article will focus on analyzing the changes in mandatory and optional component requirements, while evaluating the compliance status of approved products with the New Standard. The findings aim to assist clinical pediatricians in accurately understanding the key revisions of the New Standard, thereby enabling more scientifically appropriate nutritional support plans for infants with special medical conditions.

Objective To summarize the genetic clinical manifestations and mutation typing of 10 pediatric patients with ATP1A2 and ATP1A3 gene mutations, enriching the understanding of the genotype-phenotype correlation of this disease and promoting the understanding of this disease by clinicians. Methods A retrospective collection of clinical data from 10 pediatric patients with ATP1A2 and ATP1A3 gene mutations treated at Hospital from November 2015 to June 2024 was conducted. The genetic and clinical characteristics were analyzed, and a literature search was performed to summarize the relationship between the reported types of ATP1A2 and ATP1A3 gene mutations and their clinical manifestations. Results This study included 10 pediatric patients (3 girls and 7 boys), and the age of onset ranged from birth to 14 years old. Three children had onset with convulsions, 2 with muscle weakness, 1 with hemiplegia, 1 with alternating hemiplegia, 1 with attention deficit disorder accompanied by enuresis, 1 with convulsions combined with muscle weakness, and 1 with language and motor disabilities. Genetic testing identified ATP1A2 mutations in 3 cases and ATP1A3 mutations in 7 cases, all of which were point mutations. The mutation sites c.587G>A(p.Arg196His) and c.2841-2A>C in the ATP1A2 gene (NM_000702.3), as well as c.1013C>T(p.Ala338Val) and c.2426C>A(p.Ala809Asp) in the ATP1A3 gene (NM_152296.4) have not been previously reported. Conclusions The newly discovered mutations enrich the mutation spectrum of ATP1A2 and ATP1A3 genes and their clinical manifestations. Meanwhile, it suggests to clinicians that for diseases presenting initially with neurological symptoms such as epilepsy, muscle weakness, and hemiplegia, if the treatment outcome is suboptimal, gene testing should be promptly carried out to establish a definite diagnosis.

Objective This study aims to summarize the clinical features and TSC1/TSC2 gene variation analysis of 45 cases of tuberous sclerosis complex (TSC) diagnosed through genetic analysis, thereby enhancing the understanding of the disease. Methods Retrospectively collected and summarized clinical data of 45 children diagnosed with TSC associated with TSC1/TSC2 gene mutations and epilepsy from January 2018 to October 2021. Results Of the 45 children, 44 exhibited epilepsy, with 25 presenting with infantile spasms, 23 with generalized tonic-clonic seizures, 8 with myoclonic seizures, 6 with atonic seizures, 5 with dystonic seizures, and 20 with focal seizures. All patients showed skin depigmentation, with 6 presenting hemangiomas in the facial region. Cognitive impairment was observed in 25 cases, while 12 exhibited developmental delays. 6 had cardiac rhabdomyomas, 8 had renal cysts, 1 had polycystic kidneys, and 8 had retinal hamartomas. Genetic analysis revealed 15 patients with heterozygous mutations in the TSC1 gene (8 de novo and 7 inherited), including 4 frameshift mutations, 7 nonsense mutations, 2 missense mutations, and 2 splice mutations. In addition, 30 patients had heterozygous mutations in the TSC2 gene (21 de novo and 9 inherited), comprising 7 frameshift mutations, 4 nonsense mutations, 7 missense mutations, 3 whole-gene mutations, 7 splice sito mutations, 1 largo segmental deletion, and 1 extended mutotion. Notably, 1 TSC1 mutation and 10 TSC2 mutations were novel findings. Conclusion TSC presents with a diverse range of clinical symptoms, and the genotype-phenotype correlation is complex. Early genetic analysis of TSC1/TSC2 is essential for timely diagnosis and targeted treatment in suspected cases.

Testicular microlithiasis (TML) is a relatively rare disease associated with testicular tumors and male infertility. The incidence of TML is on the rise, peaking around the age of 11 years old. While the etiology and pathogenesis remain to be fully elucidated, and its occurrence is related to testicular injury, genetic predisposition, infections, dietary habits, lifestyle choices, and underlying medical conditions. Ultrasoundimaging serves as the primary diagnostic tool for TML, playing a crucial role in its classification and grading. The treatment of TML is mainly management of these complications. Children with TML who have a history of germ cell tumors, undescended testes, post-orchiopexy, testicular atrophy with a volume of less than 12 mL, a family history of germ cell tumors, or related genetic disorders require close observation and should be promptly referred to specialists upon detection of any abnormalities. Furthermore, cases exhibiting focal lesions or significant calcifications on ultrasound warrant immediate referral to specialists.

Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder that leads to muscle weakness, atrophy, and which can lead to death in severe cases. Recently, therapeutic drugs that can modify SMA have emerged and have significantly improved the clinical symptoms and the quality of life of patients. However, the long-term efficacy and safety of these drugs are not yet established, and various confounding factors affecting drug efficacy need further analysis and study. This article reviews the real-world efficacy and safety studies of drugs for SMA modification drugs, intending to provide some new inspirations and thaughts for the precision and individualized treatment of SMA.

Vegetarian diets have become increasingly popular due to their perceived health benefits, with the majority of research focusing on the nutritional status and disease implications in adults. However, less attention has been paid to children and adolescents with plant-based food pattern. This review has systematically searched 24 relevant researches on vegetarian children and adolescents up to August 2023 and summarized the overall nutritional status, including vitamin B₁₂, vitamin D, calcium and iron. Additionally, it has demonstrated the impact of vegetarianism on growth and its association with diseases of vegetarian children and adolescents. Further, more studies are warranted to enhance health workers’ understanding about healthy vegetarian patterns and provide scientific evidence to guide children and adolescents to have a balanced vegetarian diet, and potentially inspire new approaches to dietary therapy for metabolic diseases.

Objective Antigen escape, particularly CD19 loss, limits the efficacy of CD19-targeted chimeric antigen receptor T-cell (CAR-T) therapy in children with relapsed/refractory B-cell acute lymphoblastic leukemia (R/R B-ALL). PAX5 gene variations have been shown to disrupt CD19 expression stability and increase relapse risk. This study aimed to compare the therapeutic efficacy of two CD19/CD22 dual-targeting CAR-T strategies, namely co-infusion versus bicistronic construct, in children with R/R B-ALL harboring PAX5 gene variations. Methods A retrospective analysis was conducted on the clinical data of R/R B-ALL children with PAX5 gene variation admitted to the hospital from November 5, 2019 to May 31, 2023. The patients were divided into a co-infusion group (Co group) and a bicistronic group (Bi group). All children received lymphodepletion conditioning followed by CAR-T cell infusion at a dose ranging from 2×10⁶ to 10×10⁶ cells/kg. The primary endpoints included the 30-day complete remission (CR) rate, minimal residual disease (MRD) negativity rate, relapse rate, survival outcomes, and treatment-related toxicity. The follow-up cutoff date was March 31, 2025. Results A total of 22 children with R/R B-ALL and PAX5 gene variations were included, including 18 cases (81.8%) of fusion variations, 2 cases (9.1%) of deletions, and 2 cases (9.1%) of missense variations. Six children (27.3%) had complex karyotypes (≥ 3 abnormalities). Among them, 8 patients received combined infusion of CAR-T treatment (Co group), and 14 received bicistronic CAR-T treatment (Bi group). The median age of the children at the time of treatment was 5.57 years (ranging from 1.31 to 14.85 years), and there were 13 boys and 9 girls. The CR rate of children in both the Co group and the Bi group was 100% 30 days after infusion, and the MRD was negative in both groups (MRD<0.01%). The median follow-up time was 26.5 months (range 5 to 66 months). Among the 22 patients, the 6-month, 12-month and 3-year overall survival (OS) rates were 95.45%, 90.91% and 63.64%, respectively. Meanwhile, the 6-month, 12-month and 3-year event-free survival (EFS) rates were 77.27%, 54.55% and 40.91%, respectively. The 6-month, 12-month, and 3-year OS rates in the Co group were 100%, 87.5%, and 50%, respectively, while those in the Bi group were 92.9%, 92.9%, and 71.4%, respectively. The 6-month, 12-month, and 3-year EFS rates in the Co group were 75%, 62.5%, and 37.5%, respectively, and those in the Bi group were 78.6%, 50%, and 42.9%, respectively. There were no statistically significant differences in OS and EFS rates between the two groups (P_OS=0.411, P_EFS=0.826). A total of 4 children received allogeneic hematopoietic stem cell transplantation (allo-HSCT) after CAR-T treatment. The 6-month, 12-month and 3-year OS rates in the transplantation group were 100%, 100% and 50.0%, respectively, while those in the non-transplantation group were 94.4%, 88.9% and 66.7%, respectively. The 6-month, 12-month and 3-year EFS rates in the transplantation group were 75.0%, 75.0% and 50.0%, respectively, while those in the non-transplantation group were 77.8%, 50.0% and 38.9%, respectively. There were no statistically significant differences in OS and EFS rates between the two groups (P_OS=0.693, P_EFS=0.553). Regarding toxicity, the incidence of grade ≥3 cytokine release syndrome (CRS) was 25.0% and 57.1% in the Co and Bi groups, respectively; the incidence of immune effector cell-associated neurotoxicity syndrome (ICANS) was 25.0% and 21.4%, respectively. All adverse events were manageable and no treatment-related death occurred. Conclusions Both co-infusion and bicistronic CD19/CD22 dual-targeting CAR-T strategies exhibit favorable short-term efficacy and comparable safety profiles in pediatric R/R B-ALL with PAX5 variations. However, the 3-year EFS rate remains at a relatively low level, suggesting that the long-term prognosis still needs further improvement.

Objective To investigate the efficacy of combining Belimumab with traditional therapy in treating active lupus nephritis (LN) in children during the early induction period, and to provide a novel diagnostic and therapeutic framework for the future treatment of LN in children. Method Clinical data were collected from 58 children with active LN newly diagnosed from January 2018 to August 2021. Participants were divided into observation group (32 cases) and control group (26 cases) based on the use of Belimumab in the induction stage. Serum biochemical markers(ALB, BUN, Cr, eGRF), immune markers (IgG, C3, C4, CD19⁺B count, anti-nuclear antibody), along with urinary microalbumin, urinary protein quantity at at 24h and SLEDAI-2K score were were assessed at baseline and after 4, 12, and 24 weeks of treatment. The compliance rate, recurrence rate and glucocorticoid dosage of the two groups were also followed up. Results No significant differences were found in renal pathological type and traditional treatment between the two groups (P>0.05), there were no significant differences in blood ALB, BUN, CR, C3 and C4 between the two groups(P>0.05). However, statistically significant differences were observed among all groups (P<0.05).The eGFR was higher in the observation group at 4 and 12 weeks, but no statistically significant difference was noted between the two groups (P>0.05). After 12 and 24 weeks of treatment,urinary microalbumin and urinary protein quantity at 24h were significantly reduced compared to the control group, with statistical significance (P<0.05); intergroup comparisons also showed significant differences (P<0.05). In the observation group at 24 weeks, the CD19⁺B cell count decreased from 653 (438-933.25) cells/μL to 45 (30.50-66.50) cells/μL, IgG decreased from 14.84 (12.03-17.64) g/L to 5.45 (5.11-5.79) g/L. The positive rate of anti-nuclear antibodies decreased from 100% to 46.87%, SLEDAI-2K score reached disease-free activity status. The complete remission rate (87.50%) and total efficiency (93.75%) in the observation group were significantly higher than those in the control group (65.38% and 84.62%, respectively), with statistical significance (P<0.05). The glucocorticoid dosage was reduced to 5 mg/d in 87.50% of children in the observation group after 24 weeks, compared to 76.92% in the control group, with statistically significant differences (P<0.05). After 2 years follow-up, the compliance rate in the observation group (93.75%) was significantly higher than that in the control group (61.54%), while the recurrence rate (6.25%) was lower than that of the control group (30.77%), with statistical significance (P<0.05). Conclusion The combination of Belimumab and traditional therapy is effective in treating active LN in children during the induction period. This approach alleviates proteinuria, improves disease activity in systemic lupus erythematosus (SLE), facilitates early glucocorticoid reduction, and enhances overall outcomes, demonstrating superior efficacy compared to traditional therapy alone.

Objective To analyze the epidemiological characteristics of human bocavirus (HBoV) in hospitalized children with acute respiratory tract infections, and to provide evidence for the diagnosis and prevention of acute respiratory infection in children. Methods A retrospective analysis was conducted on the etiological test data of sputum or bronchoalveolar lavage fluid from children hospitalized due to acute respiratory tract infections in a hospital in Shijiazhuang from March 2021 to February 2024. Detection was carried out using a multiplex detection kit for 13 respiratory pathogens. The epidemiological characteristics of HBoV, including population distribution and seasonal distribution, were described and analyzed. Results The total detection rate of HBoV was 3.73% (1315/35220), with a higher detection rate in male (3.91%) than in female (3.49%) (χ²=4.08, P<0.05). The detection rate is highest in the 1- <3 years old group (9.25%, 722/7805), followed by the 3- <6 years old group (3.42%, 362/10585). There was a statistically significant difference in detection rates among different age groups (χ²=989.15, P<0 001). The detection rate of HBoV varied in different years. The highest detection rate was in 2021 - 2022 (5.20%, 443/8519), and the lowest was in 2022 - 2023 (2.22%, 204/9195), with a statistically significant difference (χ²=110.02, P<0.001). During the study period, the highest detection rate was 8.56% (823/9610) in summer, followed by 3.15% (276/8773) in autumn. And there was a statistically significant difference detection rates among different seasons(χ²=939.36, P<0.001). Among the patients with HBoV infection detected, 557 cases had no other pathogens detected, while 758 cases were co-infected with at least one other pathogenic microorganism. Conclusions HBoV is a common pathogen of acute respiratory infections in children in Shijiazhuang. It is more common in children aged 1- <3 in summer and autumn, with more males than females. It is often co-detected with other respiratory pathogens.

Systemic lupus erythematosus (SLE) is one of the most common systemic autoimmune diseases in children. The involvement of the kidneys in systemic lupus erythematosus (SLE) is referred to as lupus nephritis (LN), which serves as a critical factor influencing the prognosis of SLE. Belimumab is a recombinant human IgG1λ monoclonal antibody targeting B-lymphocyte stimulator, which inhibits B cell function by promoting B cell apoptosis. Belimumab can improve the response index and disease activity score of SLE, and delay the progression of LN. As a clinical pediatric nephrologist, the author explores some personal advices on the treatment of LN in children with Belimumab.

Objective Acquired facial hyperpigmented macules (AFHM) in children are localized to the face, affecting aesthetics and often causing concern and anxiety among parents. However, due to insufficient clinical awareness, misdiagnosis and missed diagnosis are not uncommon. This study aims to summarize the clinical and dermoscopic features of AFHM to improve clinicians' understanding of this condition. Methods A retrospective study was conducted, collecting clinical data from 54 pediatric patients diagnosed with AFHM at the Dermatology Department of Hospital between November 2021 and June 2023. The clinical manifestations, including patient demographics, rash characteristics, and dermoscopic findings, were summarized and analyzed using descriptive statistics. Results The male-to-female ratio was 1.7∶1, with a median onset age of 8 months (IQR: 5-10). Among the 33 patients who completed at least 2 years of follow-up, 90.91% (30 cases) experienced complete resolution of the lesions, with a mean resolution age of 3.17±0.75 years. The rashes predominantly affected the forehead (90.74%), temples (70.37%), and eyebrows (53.70%), with 74.07% of cases involving 2-3 sites. The number of lesions was mostly 10-20 (53.70%), with the long axis typically measuring 2-10 mm (70.37%). Bilateral distribution was observed in 92.59% of cases, and 61.11% had onset in autumn. Dermoscopy revealed brownish-red pseudo-reticular pigmented macules with telangiectasia in 88.89% of patients. Conclusion AFHM is a benign, self-limiting dermatosis in infants and young children, with distinctive clinical and dermoscopic features. For most cases, skin biopsy is not a necessary diagnostic step.

Objective To analyze the clinical and genetic variation characteristics of hereditary epilepsy in neonates and explore the correlation between the characteristics of genetic variations and clinical manifestations. Methods A retrospective collection was made of neonatal hereditary epilepsy cases admitted to Hebei Children's Hospital from January 2019 to December 2024. The cases were divided into KCNQ2 group and non-KCNQ2 group based on the results of gene sequencing. The clinical features of the two groups were compared, and the genotype-phenotype correlation of KCNQ2 was analyzed. Results A total of 43 cases of neonatal hereditary epilepsy were included, including 26 boys and 17 girls, with a gestational age of 39.4 (38.1-40.3) weeks and a birth weight of 3400 (3000-3400) g. There were 24 cases in the KCNQ2 group and 19 cases in the non-KCNQ2 group. The onset time of epilepsy was 3.0 (2.0-7.0) days after birth, which was earlier in the KCNQ2 group than in the non-KCNQ2 group (P<0.05). The main seizure forms were clonic (62.8%) and tonic (53.5%) seizures. The main abnormality on head MRI was abnormal brain parenchymal signal (72.1%). The most common finding on video electroencephalogram was multifocal discharges (34.9%). There were no statistically significant differences between the two groups (P>0.05). In the KCNQ2 group, there were 13 cases of self-limiting neonatal epilepsy (SeLNE) and 11 cases of developmental and epileptic encephalopathy (DEE). Among the 23 cases successfully followed up, 19 cases had seizure control, 8 cases had significant developmental delay, and 2 cases died. In the non-KCNQ2 group, there was 1 case of SeLNE, 10 cases of DEE, and 8 other cases. Among the 13 cases successfully followed up, 7 cases had seizure control, 7 cases had significant developmental delay, and 4 cases died. The proportion of SeLNE in the KCNQ2 group was higher than that in the non-KCNQ2 group (54.2% vs. 5.3%, P<0.01), and the proportion of death and significant developmental delay was lower in the KCNQ2 group (43.5% vs. 84.6%, P=0.033). There were 19 cases of KCNQ2 nucleotide sequence variations, including 10 cases of SeLNE, 5 cases of hereditary variations, and 4 cases of missense variations. Seven amino acid changes were located at the C-terminal. All 9 cases of DEE were de novo variations, including 7 cases of missense variations, and 5 amino acid changes were located at the S4, S6 and adjacent regions, and the B-helix region. Prediction of protein structural changes induced by 11 missense variants: among 4 SeLNE cases, 2 showed alterations in protein secondary structure, 3 exhibited changes in hydrogen bonds, and 4 demonstrated decreased protein stability; among 7 DEE cases, 6 displayed alterations in protein secondary structure, 4 presented changes in hydrogen bonds, and 6 manifested decreased protein stability. Conclusions KCNQ2 gene variations are the most common in neonatal hereditary epilepsy. Compared with other gene variations, KCNQ2-induced neonatal epilepsy has an earlier onset time and a lower proportion of adverse outcomes. Among them, de novo, missense, and variations at important functional domain sites, may be associated with severe phenotypes of DEE.

Objective To summarize the clinical characteristics of gastrointestinal foreign bodies in children, analyze the diagnosis, treatment, and outcomes of different types of foreign bodies, and provide references for clinical management and risk prevention of pediatric foreign body ingestion. Methods Clinical data of 614 pediatric patients with gastrointestinal foreign bodies from July 2021 to July 2024 were retrospectively collected and analyzed. Results A total of 614 cases were included, with a male-to-female ratio of 1.7:1. The mean age was 4.12 ± 3.07 years, and the highest incidence was among children aged 1-3 years (52.34%). Blunt foreign bodies with smooth and round surfaces were the most common (60.58%), followed by corrosive foreign bodies (8.47%) and other unclassifiable objects (2.12%). Among the cases, 153 (24.92%) were managed conservatively and excreted spontaneously, 442 (71.99%) were removed via endoscopy or surgical exploration, and 19 (3.09%) involved liquid ingestion. The esophagus was the most common site of impaction (48.05%). Complications occurred in 152 (24.76%) children, with mild gastrointestinal mucosal injury being the most common, followed by peptic ulcers (4.72%), gastrointestinal perforations (6.19%), corrosive injuries (1.95%), and esophageal strictures (0.65%). The occurrence of complications was not associated with gender or age (P>0.05), but was significantly related to factors such as admission interval, sharp or corrosive nature of the foreign body, location (upper vs. lower gastrointestinal tract), presence of underlying diseases, habitual residence, and symptoms at presentation (P<0.05). Risk factors for complications included sharp or corrosive foreign bodies, retention time >24 hours, location in the lower gastrointestinal tract, and symptoms at diagnosis (P<0.05). Conclusion Timely removal of gastrointestinal foreign bodies can reduce the incidence of complications. The type of foreign body significantly influences clinical management and prognosis, with particular attention needed for novel or special types of foreign bodies. Strengthening preventive care and avoiding foreign body ingestion are crucial in reducing the incidence of such cases.