A giant hiatal hernia with a congenital diaphragmatic hernia in a pediatric patient with arterial tortuosity syndrome: a case report.

Abstract

Congenital diaphragmatic hernia (CDH) is a rare condition, with many affected patients remaining asymptomatic, while others may present with non-specific respiratory manifestations. The coexistence of a 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 a CDH, accompanied by distinctive facial features. The initial presentation included poor oral intake and abnormal chest sounds, as observed by the patient's mother. A diagnostic evaluation using chest radiography and computed tomography confirmed the presence of both hernias. Subsequent genetic testing identified arterial tortuosity syndrome. The patient underwent primary surgical repair of both defects, along with partial fundoplication. The procedure was uneventful, and postoperative monitoring was carried out closely. Postoperatively, the patient developed dumping syndrome, which was successfully managed with octreotide. The patient demonstrated excellent clinical outcomes during follow-up.