File:Congenital diaphragmatic hernia 01.jpg

Congenital Diaphragmatic Hernia

A: Plain X-ray of the thorax of a newborn with CDH. There are bowel loops into the left hemi-thorax, the mediastinum is displaced to the contralateral side and the space occupied by the lung is reduced. B and C: At laparotomy, a left, posterolateral diaphragmatic hernia was discovered. In B, small bowel loops can be seen entering the thorax through the orifice. In C, this is seen after reducing the contents of the hernia. D: The patient died of severe persistent pulmonary hypertension days later. At autopsy, extreme left lung hypoplasia and less severe right lung hypoplasia were discovered. Tovar Orphanet Journal of Rare Diseases 2012 7:1 doi:10.1186/1750-1172-7-1

Orphanet J Rare Dis. 2012 Jan 3;7:1.

Tovar JA. Source Universidad Autonoma de Madrid, Department of Pediatric Surgery, Hospital Universitario La Paz, Madrid, Spain. jatovar.hulp@salud.madrid.org

Abstract

Congenital Diaphragmatic Hernia (CDH) is defined by the presence of an orifice in the diaphragm, more often left and posterolateral that permits the herniation of abdominal contents into the thorax. The lungs are hypoplastic and have abnormal vessels that cause respiratory insufficiency and persistent pulmonary hypertension with high mortality. About one third of cases have cardiovascular malformations and lesser proportions have skeletal, neural, genitourinary, gastrointestinal or other defects. CDH can be a component of Pallister-Killian, Fryns, Ghersoni-Baruch, WAGR, Denys-Drash, Brachman-De Lange, Donnai-Barrow or Wolf-Hirschhorn syndromes. Some chromosomal anomalies involve CDH as well. The incidence is < 5 in 10,000 live-births. The etiology is unknown although clinical, genetic and experimental evidence points to disturbances in the retinoid-signaling pathway during organogenesis. Antenatal diagnosis is often made and this allows prenatal management (open correction of the hernia in the past and reversible fetoscopic tracheal obstruction nowadays) that may be indicated in cases with severe lung hypoplasia and grim prognosis. Treatment after birth requires all the refinements of critical care including extracorporeal membrane oxygenation prior to surgical correction. The best hospital series report 80% survival but it remains around 50% in population-based studies. Chronic respiratory tract disease, neurodevelopmental problems, neurosensorial hearing loss and gastroesophageal reflux are common problems in survivors. Much more research on several aspects of this severe condition is warranted.

PMID 22214468

http://www.ojrd.com/content/7/1/1