Frontiers in Pediatrics最新文献

{"title":"Congenital hypotrichosis caused by compound heterozygous variants in the LSS gene in a Chinese patient with strabismus: case report.","authors":"Linlin Bao, Qian Li, Zhicao Yue, Fang Yang","doi":"10.3389/fped.2025.1512646","DOIUrl":"10.3389/fped.2025.1512646","url":null,"abstract":"<p><strong>Background: </strong>Lanosterol synthase (LSS) is essential for cholesterol biosynthesis and impacts embryonic development and growth. <i>LSS</i> gene variants have been associated with various conditions such as congenital hypotrichosis and cataracts, but the genotype-phenotype relationship remains not well understood.</p><p><strong>Case presentation: </strong>Herein, we report an 8-year-old boy presenting with congenital hypotrichosis and intermittent exotropia, but without any ocular movement abnormalities or cataracts. His hair exhibited sparse distribution with a yellow color, reduced strength, and minimal growth. Scanning electron microscopy revealed abnormal keratinization of the hair shafts, characterized by irregular, jagged scales and raised edges. Whole-exome sequencing identified compound heterozygous missense variants in the <i>LSS</i> gene: c.1303C>T (p.Arg435Cys) and c.386G>A (p.Arg129Gln). Three-dimensional protein modeling revealed that these variants affect highly conserved amino acid residues and are predicted by computational tools to destabilize the protein. Based on ACMG guidelines, both variants were classified as likely pathogenic, consistent with the patient's phenotype.</p><p><strong>Conclusion: </strong>We present a rare case of <i>LSS</i>-related hypotrichosis with strabismus and a novel c.386G>A variant has not been reported, which broadens the understanding of <i>LSS</i> gene variants and their phenotypic spectrum, enhancing insights into the genotype-phenotype relationship in <i>LSS</i>-related conditions.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1512646"},"PeriodicalIF":2.1,"publicationDate":"2025-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12069456/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143988441","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: endoscopic thyroidectomy via total areola approach in a six-year-old patient with thyroid follicular adenoma.","authors":"Qingqing Cai, Yifan Ke, Wenchao Li, Peng Zhang, Jiezhong Wu, Kunpeng Hu","doi":"10.3389/fped.2025.1549049","DOIUrl":"10.3389/fped.2025.1549049","url":null,"abstract":"<p><strong>Background: </strong>Endoscopic thyroidectomy (ET) has become increasingly popular globally, but its application in young children remains largely unexplored. This study reports a 6-year-old girl with a neck mass who underwent ET via total areola approach.</p><p><strong>Methods: </strong>After ultrasonographic (ACR TI-RADS 4) and cytological (TBSRTC 4) confirmation, the patient underwent endoscopic right and isthmic thyroidectomy with inferior parathyroid auto-transplantation under general anesthesia. The procedure utilized 3 mm pediatric instruments, intraoperative neuromonitoring and near-infrared auto fluorescent parathyroid monitoring.</p><p><strong>Results: </strong>The procedure achieved complete resection with 215 min operative time and minimal blood loss. The pathological diagnosis was thyroid follicular adenoma. At 3-month follow-up, no complications and excellent cosmetic outcomes were observed.</p><p><strong>Conclusion: </strong>ET via total areola approach proves highly suitable for young children because of its safety and cosmetic advantages. Experienced surgeons, small-size special surgical instruments and auxiliary monitoring techniques are helpful to improve the safety of pediatric ET.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1549049"},"PeriodicalIF":2.1,"publicationDate":"2025-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12069406/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143980876","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: Severe hemophilia B patient with inhibitor and anaphylaxis reaction to FIX, successfully managed with concizumab prophylaxis therapy.","authors":"Elisa Bonetti, Maria Pia Esposto, Ada Zaccaron, Chiara Guardo, Giulia Caddeo, Matteo Chinello, Rita Balter, Vincenza Pezzella, Virginia Vitale, Simone Cesaro","doi":"10.3389/fped.2025.1576821","DOIUrl":"https://doi.org/10.3389/fped.2025.1576821","url":null,"abstract":"<p><strong>Background: </strong>Hemophilia B is a rare X-linked disorder characterized by factor IX (FIX) deficiency, leading to spontaneous bleeding episodes predominantly affecting joints and muscles. Severe cases with FIX activity levels below 1% can develop inhibitors, rendering replacement therapy ineffective and posing additional challenges such as allergic or anaphylactic reactions to FIX infusions. Novel non-factor therapies, including concizumab, offer alternative strategies by targeting tissue factor pathway inhibitor (TFPI), a key regulator of coagulation. Concizumab restores thrombin generation and hemostasis, bypassing the need for FIX. Administered subcutaneously, it reduces treatment burden while enhancing adherence and quality of life.</p><p><strong>Case presentation: </strong>We report a pediatric case of severe hemophilia B with inhibitors and recurrent anaphylactic reactions to FIX therapy, and transitioned to concizumab therapy. Initial treatment included FIX replacement but repeated allergic reactions necessitated bypassing therapy such as recombinant activated factor VII (rFVIIa) and later concizumab. Following the initiation of concizumab, the patient experienced significant reductions in bleeding episodes, improved joint health scores, and decreased reliance on rFVIIa, with no hospitalizations or severe adverse events over four years.</p><p><strong>Discussion and conclusion: </strong>This case highlights concizumab's transformative role in managing hemophilia B with inhibitors, demonstrating its potential to address unmet clinical needs and improve outcomes, as corroborated by pivotal clinical trials. Comprehensive multidisciplinary care remains essential for optimizing long-term results.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1576821"},"PeriodicalIF":2.1,"publicationDate":"2025-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12067990/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144003288","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: Post-splenectomy bulky pelvic splenosis in an adolescent with hereditary spherocytosis.","authors":"Benedetta Elena Di Majo, Nicolò Peccatori, Alessandra Inzoli, Luca Degrate, Marta Jaconi, Michele Ratti, Alessandra Casiraghi, Giulia Maria Ferrari, Debora Sala, Andrea Biondi, Paolo Passoni, Paola Corti","doi":"10.3389/fped.2025.1581533","DOIUrl":"https://doi.org/10.3389/fped.2025.1581533","url":null,"abstract":"<p><p>Splenectomy is a well-established therapeutic approach for pediatric hematologic disorders, especially in the case of hereditary spherocytosis (HS). In addition to the commonly acknowledged short- and long-term infectious and thrombotic complications, also splenosis represents a rare but noteworthy complication of splenectomy. Splenosis is characterized by the auto-transplantation and growth of splenic tissue in ectopic locations, following trauma or splenectomy. This condition can mimic malignancies, posing diagnostic challenges. We report the case of a 16-year-old girl with HS who presented with fever, abdominal pain, and a history of laparoscopic splenectomy ten years early. Imaging revealed a vascularized pelvic mass, initially suspected to be malignant. Diagnostic laparoscopy and histopathological analysis confirmed the mass as pelvic splenosis. The patient was asymptomatic, prompting a conservative management approach with regular follow-up. This case highlights the importance of considering splenosis in differential diagnoses for pelvic masses in patients with prior splenectomy, to ensure appropriate management and avoid unnecessary interventions.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1581533"},"PeriodicalIF":2.1,"publicationDate":"2025-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12066746/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143986600","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":"Clinical application of color Doppler ultrasound for assessing hemodynamic changes in the children with moyamoya disease undergoing combined revascularization surgery.","authors":"Chenyun Zhou, Hang Ji, Hongxia Fan, Yue Li, Lina Han, Anqi Xiao, Xiaoxia Zhu, Haogeng Sun, Zhizhi Tan, Ying He, Yi Liu","doi":"10.3389/fped.2025.1526900","DOIUrl":"https://doi.org/10.3389/fped.2025.1526900","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the advantages of color Doppler ultrasound (CDUS) in detecting hemodynamic alterations in children with moyamoya disease (MMD) following combined revascularization surgery.</p><p><strong>Methods: </strong>The common carotid artery (CCA), internal carotid artery (ICA), external carotid artery (ECA), and superficial temporal artery (STA) were measured by CDUS. Hemodynamic parameters including arterial diameter, peak systolic velocity (PSV), resistance index (RI), and blood flow volume (FV) were collected at three time points: pre-operation (T1), one week after operation (T2), and three months after operation (T3). Twelve children without intracranial arterial disease were recruited as the control group. Matsushima classification-based on digital subtraction angiography (DSA) was applied at T2.</p><p><strong>Results: </strong>Among the 12 children with MMD, 11 patients with bilateral arterial stenosis and 1 patient with unilateral being affected. Compared to the 24 control hemispheres, the diameter of the ICA was significantly smaller in the 23 MMD hemispheres (<i>p</i> < 0.001) with an increased PSV of CCA and ECA, and a decrease FV of carotid arteries (<i>p</i> < 0.05). In MMD group, CDUS revealed increased diameter and FV, decreased RI of STA at the operative side at T2. The PSV and FV of ECA at the operative side increased from T1 to T3 (<i>p</i> < 0.05). Six cases were allocated to satisfactory compensation group (S Group, Matsushima classification grade A and B) and six cases to dissatisfactory compensation group (DS Group, Matsushima classification grade C). The increase in FV of STA on the operative side was higher in S Group at T2 than DS Group (Spearman rho = -0.693, <i>p</i> = 0.039).</p><p><strong>Conclusion: </strong>As a noninvasive imaging modality, carotid and superficial temporal arteries ultrasound may serve as a valuable adjunct to invasive imaging techniques for children with MMD.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1526900"},"PeriodicalIF":2.1,"publicationDate":"2025-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12066587/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144010666","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 report of 12 cases of congenital hepatic hemangioma and literature review.","authors":"Ying Wei, Zhihui Rong, Jinzhi Gao, Ling Chen","doi":"10.3389/fped.2025.1453019","DOIUrl":"https://doi.org/10.3389/fped.2025.1453019","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the clinical features, complications, diagnosis and management of congenital hepatic hemangiomas(CHHs).</p><p><strong>Methods: </strong>12 neonates of CHH admitted to our hospital in the past 10 years were retrospectively analyzed, and the clinical manifestations, auxiliary examination results, diagnosis and treatment methods, clinical efficacy andprognosis were reviewed.</p><p><strong>Results: </strong>In this study, 12 neonates with CHHs were reported. Among them, 8 cases underwent surgical treatment and recovered well postoperatively. 3 cases received routine pharmacological treatment, were gradually recovering. Only one case, presenting with giant CHH and congestive heart failure (CHF) at birth, failed initial pharmacological treatment and underwent percutaneous hepatic hemangioma embolization but died postoperatively.</p><p><strong>Conclusion: </strong>Large CHHs tend to be complicated with refractory congestive heart failure, likely due to tumor size and intra-tumor arteriovenous shunt. Propranolol is effective for CHHs with stable hemodynamics but has a slow onset of action, making it less suitable for cases complicated with CHF. Surgical resection is effective and recommended for large CHHs with stable hemodynamics, while percutaneous hepatic hemangioma embolization is advised for unstable cases.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1453019"},"PeriodicalIF":2.1,"publicationDate":"2025-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12066750/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143975440","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 renal abscess: clinical analysis and literature review.","authors":"Jianxin Sun, Lina Shi, Lezhen Ye, Yanan Xu","doi":"10.3389/fped.2025.1407437","DOIUrl":"https://doi.org/10.3389/fped.2025.1407437","url":null,"abstract":"<p><strong>Background: </strong>Pediatric renal abscesses is a severe infectious disease with a long treatment period. Due to atypical symptoms, there is a risk of delayed diagnosis, missed diagnosis, and misdiagnosis. Inadequate or incomplete treatment can lead to prolonged hospital stays, even Irreversible kidney damage. This study aimed to analyze the clinical characteristics of pediatric renal abscesses, aiming for early diagnosis and timely, appropriate treatment.</p><p><strong>Methods: </strong>A retrospective analysis was conducted on clinical manifestations, laboratory tests, imaging studies, and treatment data of 12 pediatric renal abscess cases treated in the Nephrology Department of our hospital from October 2018 to March 2023.</p><p><strong>Results: </strong>Among the 12 cases, there were 3 males and 9 females, aged between 7 months to 12 years. All cases were from urban areas, with fever being the primary symptom (100%), accompanied in some by abdominal pain and urinary frequency/pain. Clinical symptoms were atypical, with 91% showing elevated white blood cell count(WBC), a significant rise in neutrophil percentage, C-reactive protein (CRP), and a marked increase in procalcitonin (100%). significant elevation of urinary white blood cells in 83.3% of cases. Both urine and blood cultures were negative. All 12 cases underwent abdominal CT or Magnetic Resonance Urography (MRU), showing abscesses, all less than 3 cm. Treatment included third-generation cephalosporins, with the addition of linezolid in cases where the initial treatment was ineffective. Hospital stays ranged from 10 to 21 days. Follow-up MRU showed the disappearance of abscesses.</p><p><strong>Conclusion: </strong>Clinical symptoms of pediatric renal abscesses are atypical. Children with fever, accompanied by abdominal pain, and significant elevation in white blood cells, CRP, and PCT should be considered for renal abscess, and abdominal CT or MRU is recommended for early diagnosis. Conservative anti-infection treatment can yield good results for abscesses smaller than 3 cm.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1407437"},"PeriodicalIF":2.1,"publicationDate":"2025-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12066547/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143975728","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":"Integral kidney function assessment in pediatric patients with glycogen storage diseases.","authors":"Magali Reyes-Apodaca, Alejandra Consuelo-Sánchez, Rodrigo Vázquez-Frias, Benjamín Antonio Rodríguez-Espino, Mara Medeiros","doi":"10.3389/fped.2025.1543164","DOIUrl":"https://doi.org/10.3389/fped.2025.1543164","url":null,"abstract":"<p><strong>Introduction: </strong>Glycogen storage diseases (GSDs) are a group of hereditary metabolic disorders with variable clinical manifestations, depending on the enzyme and organ affected. Renal dysfunction, including hyperfiltration, proteinuria, and renal tubular acidosis (RTA), is a known complication, particularly in GSD types of Ia and Ib.</p><p><strong>Methods: </strong>This cross-sectional study evaluated renal function in 17 pediatric patients with different GSD types using an integral kidney assessment (IKA). The comprehensive evaluation included biochemical and urinary analyses, glomerular filtration rate calculations, and acidification tests.</p><p><strong>Results: </strong>The median age at first renal evaluation was 33 months, and nutritional management was often suboptimal at this stage. Through IKA, renal alterations were identified in 47% of the patients. Hyperfiltration was present in 40% of GSD type I patients, while lactic acidosis was noted in 30% of these cases. Two siblings with GSD XI presented with proximal RTA and Fanconi syndrome, highlighting severe tubular involvement. Distal RTA was documented in one non-adherent GSD Ia patient, underscoring the importance of metabolic control.</p><p><strong>Discussion: </strong>This study emphasizes the heterogeneity of renal manifestations among different GSD subtypes. Hyperfiltration, particularly in GSD I, may result from altered energy metabolism and compensatory mechanisms within the renal tubules. Proximal tubular damage in GSD XI reflects glycogen and monosaccharide accumulation within renal epithelial cells. Adherence to dietary and medical interventions is critical for mitigating renal complications and ensuring growth and development in GSD patients. Annual kidney evaluations are recommended for early detection of renal dysfunction, enabling timely initiation of therapeutic strategies such as alkali therapy and angiotensin-converting enzyme inhibitors.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1543164"},"PeriodicalIF":2.1,"publicationDate":"2025-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12066456/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143985550","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":"Head circumference percentiles in Indian children with Down syndrome.","authors":"Harvinder Kaur, Anil Kumar Bhalla, Inusha Panigrahi, Rupinder Kaur, Neha Sudhera","doi":"10.3389/fped.2025.1563501","DOIUrl":"https://doi.org/10.3389/fped.2025.1563501","url":null,"abstract":"<p><p>This study aimed to construct age- and sex-specific growth percentiles for head circumference (HC) that can be used as a reference for Indian children with Down syndrome (DS). Over 24 years, following a mixed-longitudinal growth research design, 2,327 head circumference measurements were performed on 1,125 (boys: 752, girls: 373) children with DS karyotypically proven as cases of free trisomy 21 who were aged <1 month to 10 years, following a standardized anthropometric technique. A steady increase in the mean head circumference of male and female children with DS was noted. Boys with DS had significantly larger HCs than girls. Our study showed that 12.9% of Down syndrome cases had normal head circumference, 27.2% had small heads, and the majority, 59.9%, had microcephaly. Head circumference percentiles for boys and girls with Down syndrome were constructed for ages <1 month to 10 years. There is a need to monitor the growth of children with Down syndrome using population-specific and specialized growth charts. The age- and sex-specific head circumference growth percentiles presented for Indian children with Down syndrome can be used for growth monitoring and inter-population comparison.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1563501"},"PeriodicalIF":2.1,"publicationDate":"2025-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12066698/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143993612","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 bibliometric analysis of metabolic dysfunction-associated steatotic liver disease in children from 2004 to 2024.","authors":"Xiaowei Gong, Siyu Bai, Enze Lei, Tao Lu, Yao Chen, Jianxin Cai, Jianzhong Liu","doi":"10.3389/fped.2025.1468788","DOIUrl":"https://doi.org/10.3389/fped.2025.1468788","url":null,"abstract":"<p><strong>Background: </strong>Metabolic dysfunction-associated steatotic liver disease (MASLD), once known as Non-alcoholic fatty liver disease, impacts between 3% and 10% of children and adolescents globally, as well as nearly one-third of obsessed boys and one-quarter of obsessed girls, and is the most frequent cause of pediatric liver disease associated with the obesity epidemic. With the growing attention and increasing volume of literature on pediatric MASLD, there is an urgent need for bibliometric analysis and visualization in the area of pediatric MASLD study in terms of dissecting study priorities.</p><p><strong>Methods: </strong>Literature was searched in the Web of Science Core Collection database, followed by categorization, bibliometric study as well as visual analysis conducted by applying software including Citespace, VOSviewer, and the R language. The study concentrated on analyzing information related to key authors, spatial and temporal distribution, core keywords, and important citations.</p><p><strong>Results: </strong>In total, 3,409 publications on pediatric MASLD were collected in the study, including 2,697 articles and 712 review articles. Between 2004 and 2024, the volume of publications had been constantly increasing per year. The country with the most numerous publications was the United States, which had extensive exchanges and collaborations with Italy, China, and England, followed by Italy. The <i>Journal of Pediatric Gastroenterology and Nutrition</i> had the greatest quantity of publications in this domain. The core literature was a clinical guideline. Insulin resistance, metabolic syndrome, steatohepatitis, hepatocellular carcinoma, cardiovascular risk, diabetes risk, diagnostic accuracy, lifestyle intervention, gut microbiome, probiotics, and metabolic dysfunction-associated steatotic liver disease were also hot topics and frontier trends in pediatric MASLD studies.</p><p><strong>Conclusion: </strong>This research represents the inaugural application of bibliometric analysis to examine the developmental trajectory of pediatric MASLD studies over the past two decades, which reveals that the etiology, pathological changes of the liver, relationship with obesity, complications, comorbidities, diagnosis and treatments of pediatric MASLD are the key focuses and provides academic references for pediatric clinicians and scholars to grasp the hotspots, the cutting edge and the evolving trends in the area.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1468788"},"PeriodicalIF":2.1,"publicationDate":"2025-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12066688/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143983635","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}