WOFAPS 2025 8th World Congress of Pediatric Surgery

Zeenat Bhikhoo, Jessica Mills

IWK Health Centre, Halifax, Nova Scotia, Canada

Introduction

Congenital diaphragmatic (CDH) and hiatal hernias are uncommon beyond infancy and can present diagnostic challenges when symptoms emerge later in childhood. While congenital diaphragmatic hernias typically manifest in neonates with respiratory distress, late presentations may mimic other thoracoabdominal pathologies or remain undiagnosed despite prior imaging. Similarly, large hiatal hernias are rare in children. We present two pediatric cases with delayed and atypical presentations—a congenital diaphragmatic hernia initially misidentified as eventration, and a large hiatal hernia masquerading as a thoracic cyst—emphasizing the importance of maintaining a broad differential diagnosis and the role of timely surgical intervention.

Case 1: A 15-year-old male with known neurofibromatosis type 1 presented with signs of gastric volvulus. Although prior imaging in childhood indicated diaphragmatic eventration, he had been asymptomatic and was managed conservatively. Intraoperatively, a CDH with gastric volvulus was identified. The stomach was viable and reduced into the abdomen, followed by gastropexy and primary repair of the hernia. The postoperative course was uneventful.

Case 2: A 10-year-old male with a history of premature ventricular contractions under cardiology follow-up presented with retrosternal chest pain. Initial imaging showed a cystic thoracic lesion; further cross-sectional imaging revealed a large hiatal hernia containing the stomach and duodenum. Laparoscopic reduction and hernia repair were performed. Although the patient required a relook procedure postoperatively, he recovered well and remains asymptomatic.

Conclusion

These cases highlight the diagnostic complexity of late-presenting diaphragmatic and hiatal hernias in the pediatric population. Both conditions can masquerade as more benign or unrelated thoracoabdominal findings, leading to delays in definitive treatment. Surgical repair, even in cases initially managed conservatively, can result in favorable outcomes. Clinicians should remain vigilant for atypical hernia presentations in older children, particularly in the presence of unexplained chest or abdominal symptoms, regardless of past imaging or medical history.