CASE REPORT article
Front. Pediatr.
Sec. Pediatric Surgery
Giant Hiatal Hernia with Congenital Diaphragmatic Hernia in Pediatric Patient with Arterial Tortuosity Syndrome: case report
Provisionally accepted
- 1Department of Pediatric Surgery, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia
- 2Emergency Medicine Department, Dammam Medical Complex, Dammam, Saudi Arabia
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
Congenital diaphragmatic hernia (CDH) is a rare condition, with many affected patients remaining asymptomatic, while others may present with nonspecific respiratory manifestations. The coexistence of CDH and a giant hiatal hernia is particularly uncommon. We report the case of a pediatric patient presenting with both a giant hiatal hernia and CDH, accompanied by distinctive facial features. The initial presentation included poor oral intake and abnormal chest sounds, as observed by the patient's mother. Diagnostic evaluation using chest radiography and computed tomography (CT) confirmed the presence of both hernias. Subsequent genetic testing identified Arterial Tortuosity Syndrome (ATS). The patient underwent primary surgical repair of both defects, along with partial fundoplication. The procedure was uneventful, and postoperative monitoring was carried out closely. A late postoperative dumping syndrome developed and was successfully managed with octreotide. The patient demonstrated excellent clinical outcomes during follow-up.
Keywords: arterial tortuosity syndrome, Congenital Diaphragmatic Hernia, Giant hiatal hernia, GLUT10, SLC2A10 gene
Received: 20 Nov 2025; Accepted: 12 Jan 2026.
Copyright: © 2026 Almabyouq, Abualsaud and Alabbas. 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:
Fatimah Jafer Almabyouq
Zahrh Faisal Abualsaud
Riyadh Mohammed Ali Alabbas
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.