Delayed presentation of congenital diaphragmatic hernia

Abstract

Eight patients aged 1 month up to nine years with congenital diaphragmatic hernias (seven left sided postero-lateral, one right-sided antero-medial), who presented outside of the neonatal period, are reported, four are described in detail. Radiographic presentation was obvious in four patients, simulated inflammatory lung disease in one and pneumothorax in two. In one patient a Morgagni hernia was primarily missed. Two had previous normal chest X-rays. All cases with herniated bowel showed "connecting" bowel segments passing through the diaphragmatic defect. Primarily the lack of awareness of delayed presentation of congenital diaphragmatic hernia in children with uncharacteristic thoracic and/or abdominal symptoms led to an undesirable time delay between first chest X-ray and surgery up to 16 months in four of our cases. Life threatening complications can be the consequence of delayed diagnosis as in one of our cases.

CT diagnosis of delayed presentation of congenital diaphragmatic hernia simulating massive pleuropneumonia

“…Such delayed herniation through a congenital defect has been postulated to occur when there is increased abdominal pressure from causes such as vomiting and bowel distention [3]. The infant described may indeed have had an upper respiratory infection and the cough may have caused the herniation of the bowel through the congenital defect.…”

“…Rarely CDH presents after the neonatal period. It may then show features similar to those seen in the neonatal period, in which case CDH should be included in the differential diagnosis [2,3,4,5,6]. The diagnosis may be difficult, however, when herniated bowel becomes incarcerated and obstructed.…”

Congenital diaphragmatic hernia presenting after the newborn period

“…4). Furthermore, regarding clinical findings in most of the cases, there is no fever and a lack of inflammatory signs which should help to rule out pneumonia, pleural effusion or pneumothorax [3,9]. Nowadays in patients with suspected CDH ultrasound should also be used to determine the size and localisation of the diaphragmatic defect and the hernial content [5,12].…”

Laparoscopic repair of a Morgagni hernia

“…The overwhelming majority of authors, however, consider the hernia to be congenital in origin. Symptoms may be mistaken for inflammatory lung disease, pneumothorax, or an intrapleural tumor [7]. Incarceration of bowel in a retrosternal hernia is unusual, especially in children [10].…”