[Late presentation of congenital diaphragmatic hernia]

Area of Science:

• Pediatric Surgery
• Neonatal Medicine
• Gastroenterology

Background:

• Congenital diaphragmatic hernia (CDH) is a birth defect where abdominal organs move into the chest through an opening in the diaphragm.
• While most CDH cases present neonatally with respiratory distress, a significant minority are diagnosed later in infancy or childhood.

Observation:

• Three infants (6, 9, and 11 months) presented with non-specific symptoms including vomiting and pneumonia, later diagnosed with CDH.
• Initial surgical repair was successful for all three patients.
• One patient experienced a relapse of CDH approximately one year post-primary repair, necessitating a second surgical correction.

Findings:

• Delayed diagnosis of CDH is possible due to varied presentations such as vomiting, feeding issues, tachypnea, and recurrent respiratory infections.
• Physical examination may reveal decreased breath sounds or bowel sounds in the chest.
• Diagnostic imaging like chest X-ray, upper GI series, or ultrasound confirms CDH.

Implications:

• Prompt recognition and surgical intervention are crucial to prevent complications like bowel necrosis.
• CDH should be considered in the differential diagnosis for infants presenting with unexplained respiratory or gastrointestinal symptoms.
• Successful surgical correction offers a favorable prognosis, but long-term surveillance for potential relapses is important.