Hirschsprung’s disease is a birth defect that affects the large intestine or colon of newborns.

For proper digestion and excretion, it is essential that nerves carrying signals from different parts of the body to the brain are able to function without interference. Within the digestive tract, nerve cells called “ganglion” tell the muscles of the large intestine to contract and relax in a wave-like manner to push the stool into the rectum, and finally out of the body.

An infant born with Hirschsprung’s disease lacks ganglion cells in some or all of their intestine. Because of this, stools are not able to move through the intestine. This leads to severe constipation. Furthermore, the stoppage of the stool in the intestine can result in bacterial growth and infection.

HD affects one in every 5,000 newborns and is more commonly found in male infants than in females.

Causes

As the fetus develops inside the womb, ganglia also develop throughout the extent of the intestinal tract, all the way to the anus. But in infants with HD, this development stops too soon, meaning the infant is born lacking a section of ganglia, or missing it altogether, depending on the severity of the defect.

Why the nerve cells stop developing is unclear, but doctors have found HD can be inherited from parents. Children with Down syndrome are also at higher risk of developing HD.

As the fetus develops inside the womb, ganglia also develop throughout the extent of the intestinal tract, all the way to the anus. But in infants with HD, this development stops too soon, meaning the infant is born lacking a section of ganglia, or missing it altogether, depending on the severity of the defect.

Why the nerve cells stop developing is unclear, but doctors have found HD can be inherited from parents. Children with Down syndrome are also at higher risk of developing HD.

Symptoms

Four in five children with HD begin to show symptoms within the first six weeks of their lives. A primary indication of HD is if the infant has had no bowel movement in the first 24 to 48 hours of life. Other telling signs of constipation include a swelled belly and excessive gas. The infant might also vomit a greenish or brown-colored liquid.

The baby may also have a poor appetite and poor weight gain.

Symptoms that develop later typically include:

• Difficulty passing stool without a laxative or enema

• Excess gas

• Swelling of abdomen

• Diarrhea with blood

• Frequent colon infections

• Anemia

After asking parents about their children’s symptoms and bowel movements, the doctor will order a test for HD. Most of the time, this involves X-rays, manometries, or biopsies.

An X-ray exam to test for HD begins by injecting a barium solution into the intestine through the anus. The barium coats the large intestine so it will show clearly in the X-ray scan. For children with HD, the end segment of large intestine will appear narrower than normal, and just before this narrow region, the intestine will look bulged. This bulging is due to the presence of stool in the large intestine, which confirms HD.

Manometries are typically performed in older children and adults. During the test, a doctor inserts a small balloon inside the rectum, and then inflates it with an external tool. Normally, the rectal muscles relax, but for those with HD, the muscles do not. The balloon is then deflated and removed.

Biopsies are both the most accurate test and the most invasive. The doctor will take a small sample of the large intestine and check it under the microscope. If no nerve cells are seen, then HD is confirmed.

Surgery is the best way to treat HD and is usually done soon after the child is diagnosed. The “pull-through” procedure removes the segment of large intestine that lacks ganglia, and then the healthy part of colon is joined with the anus.

For very sick children who have a severe case of HD, a doctor might recommend an ostomy before undergoing the pull-through procedure. This surgery first cuts the diseased colon from the healthy colon. Then, the healthy colon is moved into the opening of the abdomen where a small pouch called a stoma is created by folding the intestine back against itself like a cuffed sleeve. A separate device located outside the body is connected to the stoma to collect stool. This device must be emptied several times each day. Once the colon is free of any collected stool and the child is feeling better, the doctor will remove the external device and stoma and finish the pull-through procedure.

Immediately after surgery, stools are usually loose, but as time goes by, the stools will become more solid, and children will be able to train their muscles so they do not need to use the restroom as often.

Older children who have had an ostomy should learn to take care of their stoma device, and clean it often.

Even though the surgery helps constipation by enabling the bowel muscles to function normally and pass stool through the intestine, constipation may remain a minor problem for some children. A diet that involves high-fiber foods, as well as plenty of liquids, will help fix this problem. However, consult a doctor before giving the child a laxative to assist with bowel movements.

One major complication after surgery for HD that can occur is the development of a condition called as enterocolitis. This is a serious infection of the colon that results in severe diarrhea. Children with enterocolitis should go to the hospital, where doctors will administer an IV fluid drip and antibiotics to boost hydration lost during excessive excrement. Children past the age of six usually do not develop enterocolitis.

Outlook

Many children have a better life after surgery as stools pass easier and they learn to control their bowel muscles. But like any other condition, it is important to eat right and remain active – in this case, high-fiber foods are critical for stopping constipation.

Diarrhea should be watched and treated carefully at home, but if there is a sign of enterocolitis, the child should be taken to the hospital for treatment.