BMC Pediatrics最新文献

{"title":"Multimodality imaging and surgical management of a rare combination: type 2A bridging bronchus, pulmonary artery sling, and atrial septal defect, a case report.","authors":"Jianliang Liu, Jie Song, Xiaojuan Pei, Chunli Li, Dongtao Li, Yingjun Lu, Jiajuan Chen, Chengchang Liu","doi":"10.1186/s12887-026-07605-9","DOIUrl":"10.1186/s12887-026-07605-9","url":null,"abstract":"<p><p>We report the case of a 15-year-old female presenting with exertional syncope and a history of refractory respiratory symptoms. Comprehensive preoperative multimodality imaging-including echocardiography, multi-detector computed tomography (MDCT) with three-dimensional reconstruction, and bronchoscopy-revealed a rare complex of congenital anomalies: a type 2 A bridging bronchus (BB), a pulmonary artery sling (PAS), and an atrial septal defect (ASD). Crucially, imaging confirmed the absence of significant tracheal stenosis, thereby obviating the need for tracheoplasty. The patient successfully underwent surgical repair via median sternotomy on cardiopulmonary bypass, which included reimplantation of the left pulmonary artery and patch closure of the ASD. Postoperative MDCT confirmed patency of the reconstructed pulmonary artery and the patient's symptoms resolved. This case underscores the indispensable role of advanced imaging in the diagnosis and surgical planning of complex congenital cardiopulmonary anomalies, particularly for guiding a tailored surgical approach in the setting of rare associations like BB and PAS.</p>","PeriodicalId":9144,"journal":{"name":"BMC Pediatrics","volume":"26 1","pages":""},"PeriodicalIF":2.3,"publicationDate":"2026-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13651024/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149147189","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Age-related differences in pediatric anaphylaxis: a single-center experience.","authors":"Enes Çelik, Hande Yüksel Bulut","doi":"10.1186/s12887-026-07619-3","DOIUrl":"10.1186/s12887-026-07619-3","url":null,"abstract":"<p><strong>Background: </strong>Pediatric anaphylaxis is a potentially life-threatening systemic hypersensitivity reaction with age-related differences in triggers and clinical manifestations. Real-life data are important to improve recognition, risk assessment, and management. This study aimed to evaluate the demographic and clinical characteristics, triggers, management, and factors associated with moderate-to-severe anaphylaxis in children, with particular emphasis on age-related differences.</p><p><strong>Methods: </strong>This retrospective observational study was conducted at a pediatric allergy clinic between April 1, 2023, and July 1, 2025. Potential cases among children aged 0-18 years were identified using anaphylaxis-related ICD-10 codes and were subsequently re-evaluated according to the World Allergy Organization 2020 and European Academy of Allergy and Clinical Immunology 2021 diagnostic criteria. Demographic characteristics, triggers, clinical manifestations, treatment, clinical outcomes, and laboratory findings were analyzed.</p><p><strong>Results: </strong>A total of 116 patients were included; 45 (38.8%) were female, and the mean age was 9.7 ± 5.9 years. Anaphylaxis most commonly occurred at home (66.4%), and oral exposure was the most frequent route of allergen exposure (67.2%). Foods were the most common triggers (42.2%), followed by drugs (37.1%) and Hymenoptera venom (12.9%). Tree nuts, cow's milk, and hen's egg were the leading food triggers. Food-induced anaphylaxis was significantly more frequent in children aged 0-5 years, whereas drug-induced reactions were more common in older children. Cardiovascular involvement was more frequent in patients aged ≥ 12 years and in Hymenoptera venom- and drug-induced reactions, whereas neurological involvement was more frequent in children aged 0-5 years. Hymenoptera venom-induced reactions had the shortest onset time (15 min [IQR, 5-30]). Intramuscular epinephrine was administered to 94.0% of patients. Moderate-to-severe anaphylaxis was observed in 64 patients. In multivariable logistic regression analysis, a history of food allergy was independently associated with moderate-to-severe anaphylaxis (OR, 5.08; 95% CI, 1.32-19.52; p = 0.018).</p><p><strong>Conclusion: </strong>Clinical manifestations and triggers of pediatric anaphylaxis varied according to age. Food-induced reactions were more common in younger children, whereas drug-induced reactions increased with age. A history of food allergy may indicate an increased risk for moderate-to-severe anaphylaxis.</p>","PeriodicalId":9144,"journal":{"name":"BMC Pediatrics","volume":"26 1","pages":""},"PeriodicalIF":2.3,"publicationDate":"2026-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13584421/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148982307","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effect of EMDR for reduction of pain interference in children with sickle cell disease, the RELAX study: a randomized controlled trial protocol.","authors":"Mariana Nery, Linde Scholten, Carmen Voorrips, Carlijn de Roos, Karin Fijnvandraat, Lotte Haverman","doi":"10.1186/s12887-026-07153-2","DOIUrl":"10.1186/s12887-026-07153-2","url":null,"abstract":"<p><strong>Background: </strong>Children with sickle cell disease (SCD) suffer from vaso-occlusive crises, extremely painful episodes that may require hospitalization. Traumatic experiences during hospitalization and frequent pain experiences may lead to psychological distress and the development of (subclinical) posttraumatic stress disorder (PTSD). Children with SCD also experience elevated pain interference (the negative impact of pain on daily life), which research suggests may be more strongly associated with psychological than biological factors. Due to the association between psychological distress and pain, Eye Movement Desensitization and Reprocessing (EMDR), originally developed for treating PTSD, has recently been investigated for its potential to reduce pain. However, its effectiveness has not been studied for children and for SCD populations with the aim of reduction in pain interference.</p><p><strong>Methods: </strong>In this single-center randomized controlled trial children and adolescents (aged 6-18 years) with SCD and clinical relevant scores on pain interference will be randomized to either EMDR therapy (n = 20) or waiting list control group (n = 20). Waiting list participants were reallocated to EMDR after 9 weeks. Follow-up was conducted 3-months post-treatment. Primary outcome is pain interference. Secondary outcomes include PTSD symptoms, anxiety and depressive symptoms, physical mobility, number of painful days, pain intensity, pain medication use and school absence, with additional outcomes assessing themes of pain and trauma-related memories and EMDR feasibility.</p><p><strong>Discussion: </strong>This paper outlines the study protocol of a randomized controlled trial aiming to investigate the efficacy of EMDR therapy in reducing pain interference in the lives of children with SCD. If proven effective, this will be a promising intervention to reduce pain interference and chronic pain experienced by this group, with the advantage of being a non-pharmacological and non-invasive intervention. This method may also hold potential for children living with chronic pain of other causes.</p><p><strong>Trial registration: </strong>clinicaltrials.gov, NCT07001631, retrospectively registered on May 23rd 2025, clinicaltrials.gov/study/NCT07001631.</p>","PeriodicalId":9144,"journal":{"name":"BMC Pediatrics","volume":"26 1","pages":""},"PeriodicalIF":2.3,"publicationDate":"2026-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13520188/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148825164","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correction: Trifid epiglottis in a neonate with choanal atresia and hydrometrocolpos: the third reported case and the first symptomatic neonatal presentation.","authors":"Mahdieh Khorashadizadeh, Armin Doostparast, Mohammad Amin Sabahi, Sara Ghahremani","doi":"10.1186/s12887-026-07577-w","DOIUrl":"10.1186/s12887-026-07577-w","url":null,"abstract":"","PeriodicalId":9144,"journal":{"name":"BMC Pediatrics","volume":"26 1","pages":""},"PeriodicalIF":2.3,"publicationDate":"2026-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13508424/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148825071","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pancreatic steatosis is associated with exocrine pancreatic dysfunction in children with MASLD: a prospective cross-sectional study.","authors":"Buket Daldaban Sarıca, Ümmügülsüm Özgül Gümüş, Leyla Kara, Ebru Gök, Serkan Bilge Koca, Tarık Kırkgöz","doi":"10.1186/s12887-026-07464-4","DOIUrl":"10.1186/s12887-026-07464-4","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to evaluate the relationship between pancreatic steatosis and fecal elastase (FE) levels in children with hepatic steatosis, compare clinical, metabolic, and imaging findings according to metabolic dysfunction-associated steatotic liver disease (MASLD) status, and determine whether this relationship persists within children with MASLD.</p><p><strong>Methods: </strong>This prospective cross-sectional study was conducted in the Pediatric Gastroenterology and Pediatric Endocrinology Departments of Kayseri City Hospital. Participants were classified according to the presence of MASLD. Clinical characteristics, anthropometric measurements, metabolic parameters, ultrasonographic findings, and FE levels were compared between groups. FE levels were categorized as normal (> 200 µg/g), low (100-200 µg/g), and severely low (< 100 µg/g). For binary analyses, low FE was defined as ≤ 200 µg/g. Logistic regression analyses were performed to identify factors associated with low FE levels and high-grade pancreatic steatosis. Analyses were also performed within the MASLD group. Receiver operating characteristic curve analyses were used to assess the discriminatory performance of clinical, metabolic, and imaging-based parameters.</p><p><strong>Results: </strong>A total of 163 children were included; 92 were classified as having MASLD and 71 were classified as non-MASLD. Pancreatic steatosis was significantly more frequent in the MASLD group than in the non-MASLD group (93.5% vs. 40.8%), and low FE levels were also more prevalent (59.8% vs. 15.5%; p < 0.001). In multivariable analysis of the overall cohort, pancreatic steatosis grade (OR: 1.97, 95% CI: 1.20-3.23, p = 0.007) and waist circumference (WC) ≥95th percentile (OR: 3.31, 95% CI: 1.24-8.87, p = 0.017) were independently associated with low FE levels. Within the MASLD group, pancreatic steatosis grade was significantly associated with low FE levels. Pancreatic steatosis grade showed the highest discriminatory performance for low FE levels among the evaluated parameters (AUC = 0.76).</p><p><strong>Conclusions: </strong>Pancreatic steatosis was more frequent in children with MASLD, and its severity was associated with low FE levels both in the overall cohort and within the MASLD group. Imaging-based pancreatic findings showed moderate discriminatory performance for low FE levels but should not be interpreted as validated diagnostic thresholds. Pancreatic steatosis may represent a clinically relevant feature of pediatric MASLD in relation to possible subclinical alterations in exocrine pancreatic function.</p>","PeriodicalId":9144,"journal":{"name":"BMC Pediatrics","volume":"26 1","pages":""},"PeriodicalIF":2.3,"publicationDate":"2026-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13584307/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148982300","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A novel de novo multi-exon deletion of SYT1 in a child with Baker-Gordon syndrome.","authors":"Xin Xu, Hong Xu, Ling Zhang, Yikang He","doi":"10.1186/s12887-026-07556-1","DOIUrl":"10.1186/s12887-026-07556-1","url":null,"abstract":"<p><strong>Background: </strong>Baker-Gordon syndrome (BGS) is a rare autosomal dominant neurodevelopmental disorder caused by heterozygous pathogenic variants in SYT1, which encodes synaptotagmin-1, a key Ca²⁺ sensor for synaptic vesicle exocytosis.</p><p><strong>Case presentation: </strong>We describe a 13-month-old Chinese boy who presented with global developmental delay, axial hypotonia, stereotypic hand-flapping movements, limited vocalization, and mild facial dysmorphism. Brain magnetic resonance imaging revealed a simplified gyral pattern involving the frontal and parietal lobes. Trio-based whole-exome sequencing with read-depth copy-number variant (CNV) analysis identified a novel de novo heterozygous deletion spanning exons 6-8 of SYT1, which was subsequently confirmed by quantitative PCR.</p><p><strong>Conclusion: </strong>This study broadens the mutational spectrum of BGS and provides further evidence that intragenic multi-exon deletions affecting key functional domains may represent an alternative pathogenic mechanism in addition to the predominantly reported missense variants. Our findings also highlight the value of exon-level CNV analysis in the genetic diagnosis of neurodevelopmental disorders.</p>","PeriodicalId":9144,"journal":{"name":"BMC Pediatrics","volume":"26 1","pages":""},"PeriodicalIF":2.3,"publicationDate":"2026-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13584483/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148982235","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Co-design of the Implementation Toolkit for Small and Sick Newborn Care: a global open-access knowledge management web platform and linked community targeting the know-do gap.","authors":"Lauren E Allison, Mbozu Sipalo, Tobias Whatley, Zoe Griffiths, David Gathara, Sarah Murless-Collins, Chinyere Ezeaka, Olufunke Bolaji, Msandeni Chiume, Nahya Salim, Karen Walker, Alex Stevenson, Ralph Hale, Ousmane Ndiaye, Hema Magge, Massimo Salvadori, Federica Cassera, Neena Khadka, Tedbabe Degefie Hailegebriel, Rebecca Richards-Kortum, Maria Oden, Ornella Lincetto, Sara Liaghati-Mobarhan, Harriet Ruysen, Olive Cocoman, Anita Gibson, Gagan Gupta, Joy E Lawn","doi":"10.1186/s12887-026-07420-2","DOIUrl":"10.1186/s12887-026-07420-2","url":null,"abstract":"<p><strong>Background: </strong>Most births worldwide (> 80%) occur in health care facilities, yet 2.3 million newborns die annually. If the know-do gap between evidence and implementation was closed, an estimated 752,000 newborn deaths could be prevented per year. We describe the co-design of the Implementation Toolkit (Newborn Toolkit) for Small and Sick Newborn Care (SSNC), a web platform and linked community of global implementers, facilitated by NEST360 and UNICEF to enable access to curated resources, including guidelines, practical tools and peer learning for contextual adaptation.</p><p><strong>Methods: </strong>A systematic three step co-design process was followed. Step 1) Structure: We used an organising framework of WHO and UNICEF ten core components for systems strengthening for SSNC. We then reviewed relevant knowledge management platforms to identify elements facilitating user engagement. Step 2) Content: > 300 implementers collated publications and tools according to the ten core components. Step 3) Refining and building community: User data analytics plus direct feedback from the global communities of practice provided data to improve website content and community uptake, notably regular webinars.</p><p><strong>Results: </strong>Step 1) Structure: In 2020, the Newborn Toolkit website structure was co-designed based on the ten core components. Step 2) Content: Working groups, organised by core components, collated over 1,100 resources in 15 languages. Step 3) Refining and building community: Cross-country learning was facilitated through 45 webinars with multi-disciplinary speakers from all continents including caregivers, clinicians, non-governmental organisation representatives, engineers, and data scientists. French language translation and engagement was added between 2023-2025. Unique user counts increased with 28,146 in 2023 to 62,561 in 2025 from 198 countries and territories. The most viewed content includes WHO guidelines, neonatal floor plans, the ABC device costing tool, and data tools.</p><p><strong>Conclusions: </strong>Given the urgency for accelerated progress for newborn survival by 2030, faster implementation of proven solutions is needed. It is crucial that implementers can access evidence and tools to adapt for their specific context, rather than \"reinventing the wheel\". Systems change is complex, requiring novel approaches to make it doable, such as standard, simplified action pathways available on the Newborn Toolkit. Gaps to address include evidence availability in multiple languages.</p>","PeriodicalId":9144,"journal":{"name":"BMC Pediatrics","volume":"26 Suppl 1","pages":""},"PeriodicalIF":2.3,"publicationDate":"2026-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13501554/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148812029","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Systemic immune inflammation index and neutrophil-to-lymphocyte ratio as predictors of neonatal sepsis in low birth weight infants.","authors":"Fiva Aprilia Kadi, Astrid Patricia Satyayu, Tetty Yuniati, Reni Ghrahani, Sri Endah Rahayuningsih, Dida Akhmad Gurnida","doi":"10.1186/s12887-026-07551-6","DOIUrl":"10.1186/s12887-026-07551-6","url":null,"abstract":"<p><strong>Background: </strong>The systemic immune inflammation index (SII) and neutrophil-to-lymphocyte ratio (NLR) are hematological parameters calculable from standard laboratory assessment. Despite extensive adult medicine implementation, neonatal applicability remains incompletely characterized. Early identification of sepsis in neonates remains challenging and sepsis is a significant global health problem associated with high morbidity and mortality, particularly among vulnerable low birth weight (LBW) infants. This study aimed to evaluate the predictive value of SII and NLR for neonatal sepsis in LBW infants.</p><p><strong>Methods: </strong>This observational analytic case-control study was conducted at Dr. Hasan Sadikin General Hospital, Bandung, between January 2024 and June 2025. A total of 290 LBW infants were enrolled in this study, comprising 145 infants with neonatal sepsis and 145 without sepsis. SII and NLR values were calculated from complete blood counts obtained at the initial evaluation within six hours after birth. Data were analyzed using receiver operating characteristic (ROC) curves to determine the area under the curve (AUC), optimal cut-off values, sensitivity, specificity and likelihood ratios (LR).</p><p><strong>Results: </strong>Both biomarkers were significantly associated with the subsequent development of culture-confirmed neonatal sepsis. Comparative predictive performance analysis revealed superior performance of SII (AUC: 0.778; 95%CI: 0.726-0.825) relative to NLR (AUC: 0.678; 95%CI: 0.620-0.731; p < 0.001). At an optimal cut-off value of ≤ 657,962.56, SII yielded a sensitivity of 57.9% and specificity of 88.3% with positive predictive value 83.2%, LR + 4.95 and LR - 0.48. The optimal NLR cut-off value of ≤ 3.1 showed a sensitivity of 59.3% and specificity of 73.1% with LR + of 2.20.</p><p><strong>Conclusions: </strong>Both SII and NLR are significant predictors of neonatal sepsis in LBW infants. SII demonstrates superior predictive performance and higher specificity compared with NLR.</p>","PeriodicalId":9144,"journal":{"name":"BMC Pediatrics","volume":"26 1","pages":""},"PeriodicalIF":2.3,"publicationDate":"2026-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13660084/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149163784","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pediatric Clostridium septicum infections: a systematic review and case-based perspective.","authors":"Frederike Bieling, Jasmin Özcan, Julius Sommer, Patrick Morhart, Steven Hébert, Manuel Besendörfer, Sonja Diez","doi":"10.1186/s12887-026-07544-5","DOIUrl":"10.1186/s12887-026-07544-5","url":null,"abstract":"<p><strong>Context: </strong>Pediatric Clostridium septicum infections are extremely rare but often fulminant and rapidly progressive. They may manifest as clostridial myonecrosis, sepsis, or with gastrointestinal involvement. Systematic data on presentation, management, and outcomes remain scarce.</p><p><strong>Objective: </strong>To systematically review published pediatric cases of C. septicum infection, focusing on clinical presentation, underlying conditions, management, and outcome as an update to the review by Smith-Slatas et al. (2006). In particular, to assess how frequently gastrointestinal involvement occurs in this disease and whether its presence is associated with poorer outcomes. Furthermore, to highlight the diagnostic challenges and therapeutic urgency of this condition through a fatal case.</p><p><strong>Data sources: </strong>PubMed, Scopus, Web of Science, and the Cochrane Library were searched for reports from May 2006 to May 2025.</p><p><strong>Study selection: </strong>Studies describing patients under 18 years with confirmed C. septicum infection were included.</p><p><strong>Data extraction: </strong>Variables included infection site, underlying disease, treatment, and outcome. A previously unpublished fatal case of pediatric clostridial myonecrosis with ileocolic intussusception was added. Fisher's exact test was used for statistical analysis.</p><p><strong>Results: </strong>Only 18 pediatric cases published since 2006 were found; 44% had clostridial myonecrosis and 50% gastrointestinal involvement. STEC-HUS occurred in 50%. Compared with a 2006 review, rates of STEC-HUS, surgical intervention, overall survival, and absence of gastrointestinal involvement have increased. Surgical debridement was strongly associated with survival (p < 0.01), whereas gastrointestinal involvement was associated with fatal outcome (p = 0.014). The reported child deteriorated rapidly after initial intussusception diagnosis and died despite maximal intensive care.</p><p><strong>Limitations: </strong>Very few cases are available because the disease is exceptionally rare; the analysis is retrospective.</p><p><strong>Conclusions: </strong>Surgical source control is associated with improved survival. Gastrointestinal involvement is a major risk factor for poor outcome and may include intussusception.</p>","PeriodicalId":9144,"journal":{"name":"BMC Pediatrics","volume":"26 1","pages":""},"PeriodicalIF":2.3,"publicationDate":"2026-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13520299/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148825266","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identifying SHROOM4 as a novel X-linked susceptibility gene for cerebral palsy in Chinese males.","authors":"Yu Su, Yiran Xu, Ye Cheng, Zheng Qi, Jingzhou Li, Jin Zhang, Yunqian Li, Ting Wang, Junjie Zhang, Xiaoyang Wang, Changlian Zhu, Qinghe Xing","doi":"10.1186/s12887-026-07486-y","DOIUrl":"10.1186/s12887-026-07486-y","url":null,"abstract":"<p><strong>Background: </strong>Cerebral palsy (CP) is a leading cause of childhood motor disability with a notable male predominance, suggesting that X-linked genetic factors may contribute to CP susceptibility. Although SHROOM4 has been implicated in several neurodevelopmental disorders, its role in CP remains unclear. This study aimed to investigate the contribution of SHROOM4 variants to male CP susceptibility.</p><p><strong>Methods: </strong>Whole-exome sequencing was performed in 1,010 Chinese male patients with sporadic CP and 1,014 male controls. Association analysis focused on common variants and haplotypes within SHROOM4. Rare SHROOM4 variants identified in CP patients were further validated and characterized using qPCR, immunofluorescence, western blotting and CRISPR/Cas9-mediated knockout cell lines.</p><p><strong>Results: </strong>A common T-A-G haplotype comprising rs2873098, rs2295544 and rs2295543 in SHROOM4 was significantly associated with male CP susceptibility (OR = 6.091, Pc = 3.26E-07) and was enriched in CP patients with intrauterine growth restriction. Additionally, a rare nonsense variant, c.C2050T (p.Arg684*), was identified in a patient presenting with spastic CP and intellectual disability. Functional analyses showed that p.Arg684* and a population-derived frameshift variant (p.Glu1140fs*42) were associated with reduced SHROOM4 transcript abundance, consistent with NMD-mediated transcript reduction, while residual mutant transcripts produced detectable truncated proteins with variant-specific effects on protein stability, subcellular localization, and actin cytoskeletal organization.</p><p><strong>Conclusions: </strong>Our findings support SHROOM4 as an X-linked susceptibility gene associated with male CP, suggesting that both common haplotypes and rare SHROOM4 variants may contribute to the genetic susceptibility to CP. These results expand our current understanding of the genetic architecture of CP and highlight cytoskeletal regulation as a potentially relevant mechanism associated with SHROOM4 variants.</p>","PeriodicalId":9144,"journal":{"name":"BMC Pediatrics","volume":"26 1","pages":""},"PeriodicalIF":2.3,"publicationDate":"2026-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13499302/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148788140","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}