A rare case of pediatric presentation of a congenital hiatal hernia with gastric volvulus: an emergency department perspective

Abstract

Congenital hiatal hernia (CHH) is a rare entity in the pediatric population, while one complicated by a gastric volvulus is even rarer. It can be misdiagnosed if the initial clinical presentation and radiological findings are misleading. A 4- month-old male had presented several times with recurrent respiratory and gastrointestinal symptoms since the age of 1 month. He was diagnosed with infantile colic or lower respiratory tract infections during his earlier presentations, as evidence of CHH had not been recognized on plain radiographs. During his current presentation to the emergency department (his fourth), he had fever, acute respiratory distress, vomiting, and failure to thrive. A chest radiograph showed a gas-filled right lower mediastinal mass, with an inserted nasogastric tube appearing within this structure, entirely above the diaphragm. Ultrasonography confirmed the presence of CHH with gastric volvulus on day 1, which was reconfirmed by upper gastrointestinal series on day 19. On day 25, he underwent laparoscopic repair of CHH and Nissen fundoplication with gastropexy. This case highlights the importance of considering CHH as a differential diagnosis in infants who present with recurrent respiratory and gastrointestinal symptoms, and failure to thrive. This surgical entity requires early referral to surgeons to prevent morbidity and mortality.