Diagnostic challenges in late presenting diaphragmatic hernia

Background: The incidence of congenital diaphragmatic hernia (CDH) has been reported to be 1 in 2000-5000 newborns. The late presentation can occur in 5-30% of all cases and it can be harder to diagnose, as symptoms are usually vague and non-specific. Methods: We performed a retrospective review of chart files of all patients admitted to our hospital with the diagnosis of congenital diaphragmatic hernia between 2010 and 2021. Result: Of the ninety-two cases of CDH treated in our hospital between 2010 and 2021, twenty-six (28%) were late presenting. In the late-presenting CDH group, we found a slight female preponderance, with fifteen female patients (58%) and eleven male patients. A posterolateral left defect in the diaphragm was noted in fifteen cases (58%), a right defect was noted in just one case (4%) and ten patients (38%) were diagnosed with an anterior diaphragmatic hernia. The age at diagnosis varied from 2 months to 14 years. Associated anomalies were noted in just four cases. In all cases, a thoracoabdominal radiograph was performed and ten patients also had a CT scan. Primary repair was performed in 25 of the 26 patients. The mortality rate in our study population was 11%, we reported 3 cases with unfavorable evolution. Conclusion: CDH presenting beyond the neonatal period is a usual finding and it represents a true diagnostic challenge.