Diagnostic challenges in late-presentation congenital diaphragmatic hernia: A case study of a 10-month-old with respiratory symptoms

Abstract

Congenital diaphragmatic hernia (CDH) is a developmental disorder in which the diaphragm, the muscle that separates the chest from the abdomen, does not close during prenatal development, allowing abdominal organs to herniate into the chest cavity. It occurs mainly on the left side (80%-85% of cases). CDH is often identified during prenatal assessment. However, instances of late-presenting CDH beyond infancy are exceedingly uncommon, contributing to frequent misdiagnosis and delayed therapeutic intervention. We present a case of a 10-month-old female with an uneventful antenatal and perinatal history who presented with respiratory distress and multiple episodes of vomiting. Her vital signs were stable upon arrival, but she was sent to the PICU due to hypoactivity, reduced oral intake, and agitation. After an urgent CT scan, a herniation of the small and large bowel loops into the right hemithorax was discovered, along with a defect in the right hemidiaphragm. This resulted in a pleural effusion on the right side, a partially collapsed left lung, and a mediastinal shift to the left. The diaphragmatic hernia was corrected through a lateral thoracotomy at the sixth rib with multiple interrupted sutures, and a chest tube was then inserted into the pleural space above the diaphragm following a smooth reduction of the bowl. This case highlights the importance of early diagnosis, appropriate clinical investigation, and treatment. A good prognosis can be anticipated by promptly discovering and examining the condition.

Keywords

• Congenital diaphragmatic hernia
• Diaphragmatic hernia
• Pediatric surgery
• Late presentation