ORIGINAL RESEARCH article
Front. Pediatr.
Sec. Children and Health
Volume 13 - 2025 | doi: 10.3389/fped.2025.1690760
This article is part of the Research TopicPrenatal Environmental and Genetic Interactions: An Exploration from Fetal Development to Child HealthView all 14 articles
Beckwith-Wiedemann syndrome with reduced H19 expression: a case report
Provisionally accepted
- Tianjin Children's Hospital, Tianjin, China
Select one of your emails
You have multiple emails registered with Frontiers:
Notify me on publication
Please enter your email address:
If you already have an account, please login
You don't have a Frontiers account ? You can register here
Background Beckwith-Wiedemann syndrome (BWS) is a congenital imprinting disorder characterized by features such as macrosomia, umbilical hernia, macroglossia and increased tumor susceptibility. DNA methylation changes at 11p15.5 are the primary molecular mechanisms. This report presents a case of BWS with gain of methylation at imprinting control region 1 (IC1) and reduced H19 expression, along with typical clinical features and recurrent atrial tachycardia. Case presentation A 2-month-old female infant presented with macroglossia, umbilical hernia, organomegaly, and arrhythmia. She had a history of fetal macrosomia and polyhydramnios. Echocardiography revealed patent ductus arteriosus, and electrocardiogram confirmed atrial tachycardia. MLPA testing showed normal copy number at 11p15.5 but gain of methylation at IC1, confirming the diagnosis of BWS. Tongue reduction surgery with ablation was performed at 12 months due to feeding and speech difficulties. Follow-up at 18–20 months showed no evidence of tumor development, improved pronunciation, and recurrence of atrial tachycardia without myocardial hypertrophy. Conclusion This case underscores the diagnostic value of methylation testing in BWS, especially when copy number is normal. Infants with macrosomia, macroglossia, and umbilical hernia should be evaluated for BWS. Long-term multidisciplinary follow-up, including tumor surveillance and cardiac monitoring, is essential to improve prognosis and quality of life.
Keywords: Beckwith-Wiedemann Syndrome, umbilical hernia, atrial tachycardia, imprinting control region 1 hypermethylation, Tumor surveillance
Received: 22 Aug 2025; Accepted: 13 Oct 2025.
Copyright: © 2025 Wang, Deng, Xing and Niu. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Meng Wang, 13920573368@163.com
Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.