A Bochdalek hernia is a potentially life-threatening congenital defect in which the diaphragm fails to close correctly. As a result, it is possible for abdominal organs and other tissues to push upward into the chest cavity. A baby who is born with a Bochdalek hernia may have extreme breathing difficulties because of poorly developed lungs and pressure from bulging organs. Emergency surgery is often required to move the abdominal contents into their normal alignment and permanently close the opening in the diaphragm. Most infants who receive immediate treatment are able to recover and develop normally.
The causes of Bochdalek hernias are not entirely understood, but doctors believe that several factors can contribute to diaphragm deformities. A hernia may appear because of a random genetic mutation affecting organ development, a vitamin A deficiency, or an inherited metabolism disorder. The bottom of the diaphragm usually closes around the eighth week of gestation, and it is thought that developmental problems that result in hernias take effect about two weeks earlier. It is common for infants to be born with additional problems as well, such as heart defects or significantly underdeveloped lungs.
It is sometimes possible for doctors to detect a Bochdalek hernia with ultrasounds and other imaging tests while the fetus is still in the womb. In most cases, however, it is not known that a baby has a major problem until after he or she is born. At birth, the infant may show signs of breathing difficulties and a rapid heart rate. His or her skin may have a blue tint because of the lack of oxygen in the bloodstream. Babies might also be limp and fail to cry and open their eyes.
A team of doctors can quickly diagnose a Bochdalek hernia by performing a physical exam. The abdomen typically feels empty and easy to compress when organs are too far up in the chest. A physician may also be able to hear bowel noises in the chest using a stethoscope. If the patient is stable enough, chest x-rays or computerized tomography scans may be taken to confirm a diaphragm deformity.
The first goal of treatment is to stabilize breathing with oxygen therapy or cardiopulmonary resuscitation. If the heart is not functioning properly, a bypass machine may be needed to preserve blood circulation. The surgery to repair a Bochdalek hernia is a delicate procedure that involves cutting open the chest cavity and manually fixing the bowels, kidneys, stomach, and other organs into place. The hole in the diaphragm is then sutured and the surgical wound is closed. Around-the-clock monitoring and treatment are important in the days after surgery to make sure complications do not arise.
