Diagnosis of Late-Presenting Congenital Diaphragmatic Hernia by Point-of-Care Ultrasound

Congenital diaphragmatic hernia (CDH) is a rare developmental anomaly, defined by a defect in the diaphragm that permits herniation of abdominal viscera into the thoracic cavity. While the majority of CDH cases are identified prenatally or present with severe respiratory distress in the immediate neonatal period, a minority are diagnosed beyond the first month of life, referred to as late-presenting or delayed-diagnosis CDH.

Here we describe a previously well, full-term 2-month-old infant presenting with sudden onset of respiratory distress and cyanosis, initially raising concern for an acute pulmonary or cardiac event. Point-of-care ultrasound (POCUS) confirmed the diagnosis of CDH, demonstrating the presence of bowel loops with peristalsis in the left chest. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: POCUS can serve as a valuable diagnostic tool for infants with acute respiratory symptoms and can confirm the rare and life-threatening diagnosis of CDH when X-ray imaging is not readily available or is challenging to interpret.