Frontiers in PediatricsPub Date : 2025-09-04eCollection Date: 2025-01-01DOI: 10.3389/fped.2025.1667711
FeiYue Guo, QiangQiang Cui, Yang Lei, HongWei Xi
{"title":"Inflammatory myofibroblastic tumors in children: a single-center retrospective study of clinical features, management, and outcomes.","authors":"FeiYue Guo, QiangQiang Cui, Yang Lei, HongWei Xi","doi":"10.3389/fped.2025.1667711","DOIUrl":"10.3389/fped.2025.1667711","url":null,"abstract":"<p><strong>Background: </strong>Inflammatory myofibroblastic tumor (IMT) is a rare mesenchymal neoplasm of intermediate malignant potential. While its clinicopathologic features have been described in adults, comprehensive data in the pediatric population remain limited.</p><p><strong>Methods: </strong>We retrospectively reviewed pediatric patients diagnosed with IMT at Shanxi Provincial Children's Hospital between January 2016 and June 2024. Clinical data, imaging, histopathology, immunohistochemistry (IHC), and outcomes were systematically analyzed.</p><p><strong>Results: </strong>A total of 16 patients with complete clinical data and follow-up information were included. There were 10 male and 6 female patients, with a median age of 5.0 years. The primary tumor locations and clinical manifestations were diverse: 8 cases were located in the abdominal and pelvic cavities, presenting with abdominal pain, nausea, vomiting, and fever; 4 cases were located in the head, neck, and facial region, with 3 presenting as painless localized masses and 1 with inspiratory dyspnea; 1 case each occurred in the chest wall, gluteal region, and left upper limb, all presenting with painless localized masses; and 1 case occurred in the lung, presenting with cough, sputum, and recurrent respiratory infections. All 16 patients underwent surgery; three developed local recurrence requiring re-operation. At last follow-up, 15 were disease-free and one remained stable on ALK-targeted therapy.</p><p><strong>Conclusion: </strong>Pediatric IMT is a rare, low-grade malignancy with favorable prognosis. Complete surgical resection remains the cornerstone of treatment. ALK-targeted therapy may benefit patients with unresectable or recurrent disease. Long-term surveillance is warranted due to the risk of recurrence.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1667711"},"PeriodicalIF":2.0,"publicationDate":"2025-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12443843/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145112847","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}
Frontiers in PediatricsPub Date : 2025-09-04eCollection Date: 2025-01-01DOI: 10.3389/fped.2025.1587175
Jiaojiao Yin, Dan Huang, Zhenya Liu, Enpeng Zhu, Chong Zhang, Linyan Wang, Bing Li
{"title":"Novel lamin B receptor mutation (c.561C > G) in a patient with Pelger-Huët anomaly: a case report.","authors":"Jiaojiao Yin, Dan Huang, Zhenya Liu, Enpeng Zhu, Chong Zhang, Linyan Wang, Bing Li","doi":"10.3389/fped.2025.1587175","DOIUrl":"10.3389/fped.2025.1587175","url":null,"abstract":"<p><p>Pelger-Huët anomaly (PHA), an autosomal dominant disorder characterized by abnormal granulocyte morphology, was first described in 1928. Mutations in the lamin B receptor (<i>LBR</i>) gene cause a phenotypic spectrum ranging from isolated PHA, PHA with mild skeletal abnormalities, to the embryonic-lethal Greenberg skeletal dysplasia. We report a Chinese boy presenting peripheral blood granulocyte abnormalities associated with a novel <i>LBR</i> gene mutation. Whole-exome sequencing uncovered the <i>LBR</i> gene heterozygous mutation, NM_194442.2: c.561C > G (p.Tyr187*). Notably, the patient exhibited scoliosis secondary to hemivertebrae, potentially representing a previously unreported skeletal manifestation of mutations in the <i>LBR</i> gene. Analyzing the differential diagnosis between PHA, immature granulocytes, and pseudo-PHA, along with elucidating genotype-phenotype correlations for <i>LBR</i> mutations, is crucial for advancing our understanding of PHA and related disorders.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1587175"},"PeriodicalIF":2.0,"publicationDate":"2025-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12443853/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145112884","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}
Frontiers in PediatricsPub Date : 2025-09-04eCollection Date: 2025-01-01DOI: 10.3389/fped.2025.1685450
Kexin Zhang, Xuan Li, Sen Li, Xiaodong Sun
{"title":"Editorial: Novel approaches to diet, exercise, and drugs in childhood obesity and metabolic diseases.","authors":"Kexin Zhang, Xuan Li, Sen Li, Xiaodong Sun","doi":"10.3389/fped.2025.1685450","DOIUrl":"10.3389/fped.2025.1685450","url":null,"abstract":"","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1685450"},"PeriodicalIF":2.0,"publicationDate":"2025-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12443455/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145085791","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}
Frontiers in PediatricsPub Date : 2025-09-04eCollection Date: 2025-01-01DOI: 10.3389/fped.2025.1638115
Qiaojia Zhou, Yuanhong Lü, Mingna Chen, Lu Zhang, Qiong Chen, Yuan Li, Queyun Zhou, Xi Huang
{"title":"Case Report: Multidisciplinary management and nursing care for a preterm infant with rare extrarenal malignant rhabdoid tumor: a clinical case study.","authors":"Qiaojia Zhou, Yuanhong Lü, Mingna Chen, Lu Zhang, Qiong Chen, Yuan Li, Queyun Zhou, Xi Huang","doi":"10.3389/fped.2025.1638115","DOIUrl":"10.3389/fped.2025.1638115","url":null,"abstract":"<p><strong>Objective: </strong>To report the multidisciplinary management and perioperative nursing strategies for a preterm infant with extrarenal malignant rhabdoid tumor complicated by fungal infection of the tumor, and to evaluate the effectiveness of humanistic care measures for the family facing a fatal outcome due to malignancy.</p><p><strong>Methods: </strong>This paper reports the perioperative management and nursing care of a preterm infant with extrarenal malignant rhabdoid tumor using a case study approach. Preoperatively, the management included aggressive anti-infective therapy and isolation measures were applied to prevent fungal transmission, while a multidisciplinary team collaborated to develop a personalized skin management plan to preserve tumor integrity. Postoperatively, comprehensive care measures were implemented, including prevention of perioperative hypothermia, control of wound infection, and refined pain management. During hospitalization, attention was given to the psychological needs of the patient's parents, providing humanistic care and early identification to reduce the risk of maternal post-traumatic stress disorder (PTSD). After discharge, individualized guidance and follow-up home visits were provided to ensure continuity of care, with the medical team, nurses, and family working together to extend the infant' s survival and improve quality of life.</p><p><strong>Results: </strong>The infant's preoperative condition was effectively managed; the fungal infection was controlled with no nosocomial transmission, and tumor integrity was preserved without new ulcerations. Postoperatively, the infant's physiological functions improved significantly, with no instances of hypothermia or wound infection. Pain scores were successfully maintained at mild-to-moderate levels. The humanistic care approach was associated with positive psychosocial outcomes; the mother's anxiety score decreased from 31 to 17 by discharge, and the parents demonstrated calm acceptance of the infant's prognosis. The infant showed good growth, reaching 4.9 kg at two months of age. Ultimately, the infant survived for 214 days, passing away on February 17, 2024, from tumor recurrence with intracranial metastasis.</p><p><strong>Conclusion: </strong>A comprehensive, multidisciplinary management approach is critical for rare and aggressive neonatal tumors. In this case, targeted perioperative nursing strategies played a vital role in controlling infection, preserving tumor integrity, and stabilizing the infant's physiological functions. Furthermore, integrated humanistic care was essential in alleviating family psychological stress and improving the infant's quality of life. This case provides a valuable reference for the integrated medical and nursing care of similar challenging cases.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1638115"},"PeriodicalIF":2.0,"publicationDate":"2025-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12444073/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145112736","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}
Frontiers in PediatricsPub Date : 2025-09-04eCollection Date: 2025-01-01DOI: 10.3389/fped.2025.1644830
Francesca Burlo, Irene Bortolin, Domenico Leonardo Grasso, Anna Oveglia, Egidio Barbi, Lucia De Zen, Valentina Taucar, Francesca Peri
{"title":"Safety and feasibility of tracheostomy and gastrostomy home replacement: a five-year experience from a palliative care center.","authors":"Francesca Burlo, Irene Bortolin, Domenico Leonardo Grasso, Anna Oveglia, Egidio Barbi, Lucia De Zen, Valentina Taucar, Francesca Peri","doi":"10.3389/fped.2025.1644830","DOIUrl":"10.3389/fped.2025.1644830","url":null,"abstract":"<p><strong>Background: </strong>Children with medical complexities needing palliative care often rely on tracheostomy and gastrostomy tubes. As home-based care gains priority to improve well-being and reduce hospitalizations, this study evaluates the safety and feasibility of home replacement of these devices.</p><p><strong>Methods: </strong>The study was a cross-sectional observational study of pediatric tracheostomy and/or gastrostomy patients followed at home by the Friuli-Venezia Giulia Regional Pediatric Palliative Care Centre at the Institute for Maternal and Child Health IRCCS \"Burlo Garofolo\", Trieste. Data were consecutively collected between March 2020 and October 2024 by reviewing patients' medical records. A general satisfaction survey was additionally sent to caregivers.</p><p><strong>Results: </strong>The study sample included 14 children with a median age of 11 years (range 2-18 years). Among them, 3 (21%) had a tracheostomy, 7 (50%) had a gastrostomy and 4 (29%) had both devices. From 2020 to the present, 77 tracheostomy tube changes and 82 gastrostomy button changes were performed. No complications occurred. Families expressed high satisfaction with home device replacements, with nearly all preferring them over hospital-based changes.</p><p><strong>Conclusion: </strong>This study shows the safety and feasibility of home tracheostomy and gastrostomy replacement, highlighting the strong preference of patients' families for these procedures. By ensuring a secure approach, they help preserve the quality of life for both patients and their families.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1644830"},"PeriodicalIF":2.0,"publicationDate":"2025-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12443695/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145112960","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}
Frontiers in PediatricsPub Date : 2025-09-04eCollection Date: 2025-01-01DOI: 10.3389/fped.2025.1655021
Bowen Zhao, Fengjuan Ding, Fei Hou, Hua Jin
{"title":"Paternal mosaicism in <i>ASXL3</i>-related bainbridge-ropers syndrome: implications for genetic counseling and prenatal diagnosis.","authors":"Bowen Zhao, Fengjuan Ding, Fei Hou, Hua Jin","doi":"10.3389/fped.2025.1655021","DOIUrl":"10.3389/fped.2025.1655021","url":null,"abstract":"<p><strong>Objective: </strong>Bainbridge-Ropers syndrome (BRS) is a neurodevelopmental disorder predominantly caused by pathogenic variants in the <i>ASXL3</i> gene, which have been conventionally considered to occur <i>de novo</i>. This study aimed to investigate the potential role of parental mosaicism in BRS inheritance and its clinical implications for genetic counseling.</p><p><strong>Methods: </strong>Trio-based whole-exome sequencing (WES) was performed on the proband and both parents to identify candidate variants, which were subsequently validated by Sanger sequencing. <i>ASXL3</i>-targeted ultra-deep sequencing of paternal semen DNA was then carried out to detect low-level mosaicism. Prenatal diagnosis via amniocentesis was used to evaluate transmission of the familial variant.</p><p><strong>Results: </strong>We definitively diagnosed this family by WES and found the lowest level of paternal mosaicism reported to date, with a peripheral blood variant allele frequency (VAF) of 8.17% and a semen VAF of 15.03%. Prenatal diagnosis at 18 weeks of gestation confirmed that the variant was not detected in this pregnancy.</p><p><strong>Conclusion: </strong>This study establishes parental chimerism as an important genetic mechanism for <i>ASXL3</i>-associated disorders and emphasizes the need for ultrasensitive testing in genetic counseling. The findings redefine genetic risk stratification for BRS and provide a basis for accurate family planning based on high-depth sequencing.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1655021"},"PeriodicalIF":2.0,"publicationDate":"2025-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12443740/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145112965","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}
Frontiers in PediatricsPub Date : 2025-09-04eCollection Date: 2025-01-01DOI: 10.3389/fped.2025.1622729
Giuseppe Fischetti, Lorenzo Giovannico, Giovanni Meliota, Nicola Di Bari, Domenico Parigino, Elena Massari, Maristella Lombardi, Ugo Vairo, Tomaso Bottio, Massimo A Padalino
{"title":"Case Report: Surgical management of giant multiple aneurysms after Kawasaki disease in a teenager.","authors":"Giuseppe Fischetti, Lorenzo Giovannico, Giovanni Meliota, Nicola Di Bari, Domenico Parigino, Elena Massari, Maristella Lombardi, Ugo Vairo, Tomaso Bottio, Massimo A Padalino","doi":"10.3389/fped.2025.1622729","DOIUrl":"10.3389/fped.2025.1622729","url":null,"abstract":"<p><p>Kawasaki disease (KD), or mucocutaneous lymph node syndrome, is a rare systemic inflammatory condition predominantly affecting children under 5 years of age. Complications such as giant coronary artery aneurysms, although rare due to advancements in treatment, remain life-threatening. Coronary artery bypass grafting (CABG) has been a well-established treatment for severe coronary lesions caused by KD. In rare cases of ischemic cardiomyopathy in pediatric patients, heart transplantation may be the only option. We report a case of a 15-year-old male with a history of KD diagnosed at 9 months of age, complicated by giant coronary aneurysms of the left anterior descending and right coronary arteries, who underwent a successful double CABG using the left internal mammary artery) and a saphenous vein graft.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1622729"},"PeriodicalIF":2.0,"publicationDate":"2025-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12443707/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145112876","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}
Frontiers in PediatricsPub Date : 2025-09-03eCollection Date: 2025-01-01DOI: 10.3389/fped.2025.1670440
Hai-Qing Tan, Qian-Kun Li, Mu-Rong Jiang, Dong-Hua Bin
{"title":"Global burden of inflammatory bowel disease in children and adolescents, 1990-2021: trends, age-specific patterns and future projections.","authors":"Hai-Qing Tan, Qian-Kun Li, Mu-Rong Jiang, Dong-Hua Bin","doi":"10.3389/fped.2025.1670440","DOIUrl":"10.3389/fped.2025.1670440","url":null,"abstract":"<p><strong>Introduction: </strong>Recent epidemiological trends have revealed a marked increase in incidence among children and adolescents. This study aimed to analyze the global burden of inflammatory bowel disease (IBD) among children and adolescents aged 0-19 years from 1990 to 2021 systematically, focusing on regional and age-specific trends and future projections, with the aim of informing global prevention and control strategies.</p><p><strong>Methods: </strong>Data on IBD incidence, mortality, and disability-adjusted life years (DALYs) were obtained for 204 countries and territories from the Global Burden of Disease Study 2021 (GBD 2021). Temporal trends were evaluated via the estimated annual percentage change (EAPC) and average annual percentage change (AAPC). A Bayesian age-period-cohort (BAPC) model was used to project the disease burden through 2050. The relationship between the sociodemographic index (SDI) and disease burden was also assessed, with Spearman's rank correlation coefficient applied for correlation analysis.</p><p><strong>Results: </strong>Globally, the incidence of IBD among children and adolescents remained stable (EAPC = -0.03%, 95% CI: -0.44-0.38), although marked regional disparities were observed. The incidence rates were stable or declined in high-income countries (e.g., high-income North America: EAPC = -1.07, 95% CI: -1.82--0.32), whereas industrializing regions showed significant increases (e.g., East Asia: EAPC = 2.01, 95% CI: 1.02-3.19). Although very early-onset IBD (VEO-IBD) is rare, it is associated with disproportionately high mortality and DALY rates based on indirect estimates derived from the <5-year-old group, which may have inherent limitations. Globally, mortality has decreased by 51.6% and DALYs by 49.5%, yet the burden remains high in low-SDI regions. Projections suggest that by 2050, the incidence may reach 0.71 per 100,000, while mortality and DALY rates will continue to decline.</p><p><strong>Discussion: </strong>The global burden of IBD in children and adolescents is characterized by significant regional disparities, with VEO-IBD presenting unique challenges. Targeted interventions-including early diagnosis, enhanced multidisciplinary care, and international collaboration-are urgently needed, especially in low- and middle-income countries where resource allocation and disease management remain limited.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1670440"},"PeriodicalIF":2.0,"publicationDate":"2025-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12440882/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145085778","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}
Frontiers in PediatricsPub Date : 2025-09-03eCollection Date: 2025-01-01DOI: 10.3389/fped.2025.1604053
Hang Wu, Jingjing Li, Yue Yang, Xiaoqi Xuan, Jinlong Yang
{"title":"Global burden, trends, and projections to 2050 of neuroblastoma and other peripheral nervous cell tumors: a systematic analysis of the global burden of disease study from 1990 to 2021.","authors":"Hang Wu, Jingjing Li, Yue Yang, Xiaoqi Xuan, Jinlong Yang","doi":"10.3389/fped.2025.1604053","DOIUrl":"10.3389/fped.2025.1604053","url":null,"abstract":"<p><strong>Background: </strong>Neuroblastoma and other Peripheral Nervous Cell Tumors (NPNTs) contribute substantially to global pediatric cancer morbidity and mortality, particularly among children under five. This study provides a comprehensive analysis of the global burden of NPNTs, examining long-term trends from 1990 to 2021 and projecting future patterns through 2050, based on data from the Global Burden of Disease (GBD) Study 2021.</p><p><strong>Methods: </strong>We analyzed mortality and disability-adjusted life years (DALYs) from 1990 to 2021 using GBD data. Trends were assessed via age-standardized rates (ASRs) and estimated annual percentage change (EAPC). Predictive models (Exponential Smoothing and ARIMA) projected future burden through 2050. Analyses were stratified by age, sex, and socio-demographic index (SDI) regions.</p><p><strong>Results: </strong>In 2021, NPNTs resulted in 5,194 deaths (95% UI: 4,295-5,932) and 285,479 DALYs (95% UI: 227,709-341,110) globally. Children under five years accounted for 1,355 deaths (26.1% of total) and 126,215 DALYs (44.2% of total), with males exhibiting higher mortality rates (ASR: 0.08 vs. 0.06 per 100,000 in females). Middle-SDI regions experienced the highest number of deaths (1,503) and DALYs (79,412), while high-SDI regions had the highest age-standardized death rate (0.09 per 100,000) and DALYs rate (5.25 per 100,000). From 1990 to 2021, population growth drove 90.2% of DALYs increases, while aging offset 13.0% of the rise. Projections diverged: ES models predicted stable trends, whereas ARIMA forecasted a 22.3% increase in male DALYs by 2050 (from 165,574 to 226,533).</p><p><strong>Conclusions: </strong>The escalating burden of NPNTs is strongly tied to demographic expansion and inequitable healthcare access. Prioritizing early diagnosis in high-burden regions (e.g., middle/low-SDI settings) and addressing sex-specific disparities are imperative. These findings call for data-driven policies to mitigate future disease burden through targeted resource allocation and surveillance strengthening.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1604053"},"PeriodicalIF":2.0,"publicationDate":"2025-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12440315/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145080406","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":"Case Report: A case of Poirier-Bienvenu neurodevelopmental syndrome manifesting primarily as eyelid myoclonia.","authors":"Yuanyuan He, Qingqing Deng, Chen Chen, Zhanli Liu, Lingwei Weng","doi":"10.3389/fped.2025.1583346","DOIUrl":"10.3389/fped.2025.1583346","url":null,"abstract":"<p><p>Variants in the <i>CSNK2B</i> gene are known to cause Poirier-Bienvenu neurodevelopmental syndrome (POBINDS). Since its first report in 2017, nearly 100 cases have been documented. Epileptic seizures and intellectual disabilities are core symptoms of POBINDS. While the <i>CSNK2B</i> genotype and phenotype exhibit increasing diversity, the genotype-phenotype correlation remains unclear. In this study, we identified a novel <i>CSNK2B</i> heterozygous mutation NM_001320.7:c.268A > C (p.Thr90Pro) in a child with Jeavons syndrome, classified as a likely pathogenic under ACMG guidelines. Computational analyses predicted that the change of c.268A > C (p. Thr90Pro) might have an impact on the stability of the protein. This pathogenic mutation enriches the spectrum of <i>CSNK2B</i> gene mutations and suggests that <i>CSNK2B</i> may be a causative gene for Jeavons syndrome.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1583346"},"PeriodicalIF":2.0,"publicationDate":"2025-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12440885/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145085684","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}