Late-presenting congenital diaphragmatic hernias in children: A single-center case series over 16 years

Congenital diaphragmatic hernia (CDH) typically manifests as respiratory distress during the neonatal period, and is associated with high mortality rates. However, late-presenting CDH that occurs after the neonatal period is rare and often leads to misdiagnosis and delayed treatment, potentially resulting in severe complications. This study aimed to review our experience with late-presenting CDH cases to better understand its characteristics and facilitate earlier diagnosis and treatment. We retrospectively analyzed the medical records of 62 patients aged <18 years who underwent CDH surgery between 2008 and 2024 at Pusan National University Children's Hospital, Korea. Patients in the neonatal period and those with diaphragmatic eventration, hiatal hernias, or morgagni hernias were excluded. We evaluated demographics, symptoms, associated anomalies, surgical findings, and outcomes. Over a 16-year period, seven patients underwent surgery for late-presenting CDH at our center. Among them, 5 were male (71%) and 2 were female (29%). The median patient age at the time of surgery was 9 months. Four patients (57%) presented with respiratory symptoms, including cough and dyspnea, whereas the remaining 3 (43%) exhibited gastrointestinal symptoms, such as nausea and vomiting. Diagnosis was achieved in 6 patients (86%) through computed tomography and in 1 patient (14%) through ultrasonography. Three patients with gastrointestinal symptoms due to bowel obstruction or gastric volvulus and 1 patient with respiratory distress caused by lung compression from herniated abdominal organs underwent emergency surgery. Three patients with upper respiratory tract infections underwent surgery after the infections resolved. Primary repair without patch placement was successfully performed in all patients, with a 100% survival rate. Late-presenting CDH can manifest with a wide range of gastrointestinal or respiratory symptoms. When children present with unexplained gastrointestinal or respiratory issues, late-presenting CDH should be considered as a differential diagnosis. Although the number of cases is limited, timely diagnosis and appropriate surgical treatment may lead to favorable outcomes.