A case of congenital diaphragmatic hernia with malrotation of gut, delayed presentation in adult

Abstract

Congenital diaphragmatic hernia (CDH), which mainly occurs in the new born or in childhood with severe respiratory distress and is associated with high mortality, is rarely found in adult. Pulmonary hypoplasia and pulmonary hypertension contribute to the high mortality and morbidity due to CDH. These patients adjust their lifestyle to manage symptoms associated with frank herniation of the large bowel, omentum, and other viscera inside the diaphragmatic hernia. We report a 25-year-old male who presented with shortness of breath on exertion diagnosed as having CDH. The disease was detected using chest X-ray (CXR) and was confirmed on contrast enhanced CT scan. A defect was noted in the posterolateral right diaphragm with omentum, small bowel, caecum, appendix, and colon herniating through it with malrotation (incomplete rotation) of gut. CT scan and CXR were the two useful methods in diagnosis of CDH in this patient, but sometimes becomes challenging because of rare incidence and types prior to surgery. For better outcome of CDH patients long term follow up and more investigations are needed. In some cases, where conventional CT scan and ultrasonography fails to diagnose a case of CDH & malrotation of gut, diagnostic laparoscopy plays a key role in facing such situations.

Keywords

• diaphragmatic hernia
• malrotation of gut
• respiratory distress
• diagnostic laparoscopy