Unusual case of delayed congenital diaphragmatic hernia in Loeys-Dietz syndrome: a case report

Congenital diaphragmatic hernias rarely present after 2 months of age and are typically diagnosed in the perinatal period. Moderate to severe diaphragmatic hernias present with respiratory symptoms, while late-onset hernias have a more varied presentation, depending on the age and content of the hernia. Very rarely, such hernias are found on incidental imaging, in which surgical repair is frequently recommended. A young girl with Loeys-Dietz syndrome and prior abdominal surgeries presents with 1-year history of increasingly severe, intermittent, abdominal and left shoulder pain. Prior imaging incidentally revealed a left diaphragmatic hernia with omentum protruding into the thoracic cavity. This was managed expectantly due to her other medical and surgical issues. Serial imaging revealed that the herniated omentum was increasing in size and symptoms began to develop. An uncomplicated primary thoracoscopic repair was performed. We report the first case of a congenital diaphragmatic hernia in a patient with Loeys-Dietz syndrome.