Background:
A diaphragmatic hernia is defined as a defect in part of the diaphragm through which abdominal contents can protrude into the thorax. It may be congenital or acquired. In this case report, we aim to demonstrate a congenital diaphragmatic hernia in an adult marfanoid patient which required emergency treatment
Case presentation:
A 43 year old woman was admitted with classical appendicitis requiring surgery. She incidentally had Marfan's clinical features with a positive family history for the syndrome. At operation she had grossly abnormal abdominal anatomy. Radiological investigations demonstrated a large right congenital diaphragmatic hernia with an intrathoracic hernial sac containing a perforated gangrenous appendix. The hernial sac was opened surgically and the appendix excised. The patient made a full recovery.
Conclusion:
Diaphragmatic hernias are usually congenital in nature often requiring early corrective surgery for future survival. We have demonstrated the presence of an unusually large diaphragmatic defect, almost a hemidiaphragmatic defect, of unknown direct etiology, but of some possible association with Marfan's syndrome in an adult patient presenting with an acute perforated gangrenous appendix requiring emergency life-saving surgery.