B60-14 The Hidden Hernia - A Case of Late Diagnosis of Congenital Diaphragmatic Hernia and Related Pulmonary Manifestations

Abstract Introduction While most infants diagnosed with congenital diaphragmatic hernias (CDH) have respiratory distress, some may remain asymptomatic or present with nonspecific pulmonary or gastrointestinal symptoms later in life, with incidental discovery on imaging. Here, we present a young adult with left lung agenesis and late diagnosis and repair of CDH. Case Presentation An 18-year-old male was referred to pulmonology clinic for history of known left-sided lung agenesis. Outside hospital record review revealed left-sided lung agenesis in utero without mention of congenital diaphragmatic hernia. Chest CT at age 7 years indicated cardiac and mediastinal shift into the left hemithorax with elevated left hemidiaphragm and left lung agenesis, and normal right lung morphology. Pulmonary function tests (PFTs) showed mild restrictive lung disease. Polysomnography (PSG) was completed demonstrating moderate obstructive sleep apnea with hypoventilation worse with lateral left recumbent positioning. Echocardiogram showed no signs of pulmonary hypertension. He was subsequently lost to follow up and re-presented for nephrolithiasis at age 15 years with abdominal and chest CT confirming large Bochdalek hernia (Figure 1), which was repaired at age 16 years. At time of evaluation when he was age 18 years close to two years post-repair, there were no reported recurrent respiratory infections or reflux, though he did have intermittent wet cough with exercise-associated dyspnea. Physical exam was remarkable for mild pectus excavatum and absent breath sounds in the left posterior lung fields, though no retractions or increased work of breathing, and he had normal vital signs including RR 19 breaths/minute and SpO2 98%. PFTs showed moderate restrictive lung disease, a progression compared to his lung function before diaphragmatic hernia repair. He has chest CT, PSG, and cardiopulmonary exercise test (CPET) planned for additional workup and monitoring post-repair. Discussion Late diagnosis of CDH is rare but important to consider in patients with unexplained chest or abdominal symptoms, with limited evidence regarding standardized management post-repair. Interestingly, our patient presented with overall milder respiratory symptoms, though he continues to have abnormal PFTs with a restrictive pattern. Long-term outcomes depend on careful monitoring of chronic pulmonary sequelae including airway obstruction and pulmonary hypertension as well as addressing comorbidities such as gastroesophageal reflux and musculoskeletal changes. This abstract is funded by: None