Hirschsprung disease occurs when some of the nerve cells that control stool movement are missing from a part of the colon. It is a rare birth defect that affects the large intestine (colon). As a result, the stool becomes blocked, causing constipation, abdominal swelling, and other complications.
It is unknown exactly why hirschsprung disease occurs, but genetic factors are thought to contribute to it. In people with hirschsprung disease, some genes involved in nerve cell development in the colon may be mutated or missing. People with Down syndrome or other chromosomal abnormalities are more likely to suffer from the condition, as are males.
The symptoms of hirschsprung disease vary depending on the severity and the length of the affected colon. The most common symptom is the failure to pass the first stool (meconium) within 48 hours after birth. Other symptoms may include:
Chronic constipation or difficulty passing stool
Abdominal pain, bloating, or distension
Vomiting, especially green or yellow fluid
Poor appetite, weight loss, or failure to thrive
Fever, diarrhea, or blood in the stool
Infection or inflammation of the colon (enterocolitis)
The diagnosis of hirschsprung disease is based on the medical history, physical examination, and various tests. Some of the tests that may be used to diagnose or confirm hirschsprung disease are:
X-ray of the abdomen with contrast dye (barium enema): This test shows the outline of the colon and reveals the narrow section without nerve cells and the dilated section behind it.
Biopsy of the colon tissue: This test involves taking a small sample of the colon tissue and examining it under a microscope to look for the presence or absence of nerve cells.
Anal manometry: This test measures the pressure and relaxation of the muscles around the anus. A balloon is inserted into the rectum and inflated. Normally, the muscles should relax in response to the balloon, but in hirschsprung disease, they remain tight.
Surgical treatment is the mainstay of hirschsprung disease. It involves removing the affected part of the colon and connecting the healthy part to the anus. There are two types of surgery.
The most common surgery for Hirschsprung disease is pull-through surgery, which involves removing the diseased colon and pulling the normal colon through the remaining colon and attaching it to the anus. Laparoscopy or endoscopy can be used to perform this surgery.
If a baby is very sick or premature, or if pull-through surgery is not possible, this type of surgery may be done. In this procedure, an opening is made in the abdomen and the healthy part of the colon is brought to the surface. During this surgery, the stool passes through the stoma into a bag attached to the skin, which is usually temporary until a pull-through surgery is performed later.
There is no known way to prevent hirschsprung disease, as it is a congenital condition that occurs before birth. However, some measures that may help reduce the risk of complications or improve the outcome of the treatment are:
Seeking prenatal care and genetic counseling if there is a family history of hirschsprung disease or other chromosomal disorders
Monitoring the baby’s bowel movements and growth after birth and reporting any signs of constipation, abdominal swelling, or vomiting to the doctor
Following the doctor’s instructions on feeding, medication, and wound care after the surgery
Watching for signs of infection or inflammation of the colon, such as fever, diarrhea, or blood in the stool, and seeking medical attention immediately
Encouraging the child to drink plenty of fluids, eat a high-fiber diet, and exercise regularly to prevent constipation and promote bowel health
