Atypical presentation of congenital diaphragmatic hernia with gastric ischemia and coffee-ground emesis in late infancy: a case report and literature review

Congenital diaphragmatic hernia (CDH) is typically diagnosed in the prenatal or immediate postnatal period. Late-presenting CDH is rare and can have varied, nonspecific symptoms. Upper gastrointestinal bleeding is an uncommon initial manifestation. We present the case of an 11-month-old male infant with respiratory distress and coffee-ground emesis. Initial imaging revealed a large left-sided diaphragmatic hernia with mediastinal shift. Laparotomy showed herniation of stomach, small intestine, and spleen, with gastric ischemia and subcapsular splenic hematoma. Resection of the ischemic gastric segment and diaphragmatic repair were performed. The postoperative course was uneventful until a febrile episode revealed a urinary tract infection and moderate to severe left-sided hydronephrosis. This case highlights the importance of considering late-presenting CDH in the differential diagnosis of upper GI bleeding and respiratory distress in infants, and the need for thorough evaluation of associated anomalies. Clinicians should maintain a high index of suspicion for diaphragmatic hernia in infants with unexplained GI bleeding and respiratory distress.