Diaphragmatic Hernia

Diaphragmatic hernia is a congenital malformation found in approximately one in 2,000 infants. It occurs when the diaphragm (the muscular wall separating the chest and abdomen) fails to develop normally during gestation, leaving a hole (usually on the left side) through which some of the intestines and other abdominal organs enter the chest. In severe cases, the stomach and intestines (and rarely the spleen, liver and kidneys) displace the heart and lungs.

The disorder is life-threatening when severe, but about 50 percent of babies with diaphragmatic hernia survive with surgery. Occasionally, small, symptom-free hernias can remain undetected throughout the person's life or only appear when an X ray is taken for an unrelated condition.

WHAT HAPPENS IN A DIAPHRAGMATIC HERNIA?
During gestation, the abdominal organs of a fetus with diaphragmatic hernia are pushed up through the hole in the diaphragm. They may compress the lungs, preventing their complete development in about 40 percent of these cases. Some children with diaphragmatic hernias are also born with heart defects. After birth, the babies may have difficulty breathing and will be cyanotic, or blue.

WHAT CAUSES A DIAPHRAGMATIC HERNIA?
A diaphragmatic hernia results when the muscles and connective tissues of the diaphragm do not fuse properly during fetal development, leaving an opening. The cause of the abnormality is unknown.

HOW CAN THE PEDIATRICIAN TELL IF MY INFANT HAS DIAPHRAGMATIC HERNIA?
Diaphragmatic hernia may be diagnosed before birth by means of ultrasound examination. In most cases, the diagnosis is made at birth, but if the baby is not in immediate distress, diagnosis may escape detection for several days. The newborn infant may have labored breathing, shortness of breath, blue skin, a sunken or hollowed abdomen (because the abdominal organs are in the chest cavity) and signs of intestinal obstruction, including vomiting, severe colicky pain, discomfort after eating and constipation.

An X ray revealing the displacement of the abdominal organs into the chest will confirm the diagnosis.

WHAT TREATMENTS ARE AVAILABLE?
If the diagnosis is established prenatally, surgery may be scheduled within the first few hours after the baby is born. A few hospitals are experimenting with techniques to correct diaphragmatic hernias before birth, but these procedures have not been perfected.

Children born with a severe diaphragmatic hernia often require emergency resuscitation. If so, the immediate concern is to maintain regular breathing and to remove air and fluids trapped in the compressed lungs. With breathing stabilized, surgery is required to return displaced organs to the abdomen and close the hole in the diaphragm.

Mechanical ventilation is usually needed for several days or months after the surgery, before the underdeveloped lungs can begin to function on their own. A technique called extracorporeal membrane oxygenation (ECMO) is available in some hospitals to treat babies who have undergone surgery for a particularly severe diaphragmatic hernia or, in some circumstances, to improve ventilatory dynamics before operative repair is undertaken. In EMCO, the baby's blood is temporarily circulated outside the body through a machine for oxygenation for as long as three weeks if necessary.

Excerpt from THE DISNEY ENCYCLOPEDIA OF BABY & CHILD CARE, © 1995 DSH Communications, Inc. This material is based on current medical research and, to the best of the editors' knowledge and understanding, is accurate and valid. However the reader should not use information contained in this material to alter a medically prescribed regimen or as a form of self-treatment, without seeking the advice of a licensed physician.