Hirschprung's Disease

Hirschsprung’s disease is a birth defect that affects the large intestine (colon) of newborn. It is well known that eating food everyday is as important as excreting the undigested stuff. For proper digestion and excretion, it is very important that all the nerves, which carry signals to and fro the brain, functions without any interruption.

Every organ has nerve cells, similarly, the large intestine also has nerve cells called as ganglion. These cells functions as messenger that tells 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. But a baby who is born with HD doesn’t have these ganglion cells in the intestine, because of which the stool doesn’t move through the intestine, and results in severe constipation in babies.

In some infants, the region near the anus doesn’t have the ganglion cells, and in some the whole colon is deprived of these very essential nerve cells. Piling up of the stool in the intestine might result in bacterial growth and infection.

Causes

The reason for some infants to be born with HD is that when the fetus develops inside the womb, the nerve cell ganglion also develops simultaneously along the intestine through the anus. But in infants with HD, the nerve cell development stops too soon. Now, why the nerve cells stops developing is unclear.

HD can also be inherited from parents. Children with Down syndrome (mental retardation) are at higher risk of developing HD.

HD affects 1 in every 5000 newborn and are found commonly in male infants than in females. It is sure that HD is not caused by anything that the mother does or eats during pregnancy.

Symptoms

Parents should suspect HD in their infants if the baby is constipated, and had no bowel movement within 48 hours. The belly may be swelled up and he baby may have excessive gas. The baby may vomit a brown or green colored vomitus. When the doctor inserts a finger into the rectum, there could be explosive excretion of the collected stool. The baby may show signs of jaundice, have poor appetite, and poor weight.

In older kids symptoms include:

  • Difficulty passing stool without laxative (medicine that loosens stool) or enemas (flushing water through the anus)

  • Excess gas

  • Swelling of abdomen

  • Diarrhea with blood

  • Frequent infection of the colon

  • Decreased growth

  • Anemia, resulting in lack of energy

Diagnosis

Hirschsprung disease diagnosis in infants and kids begins with questioning parents about the symptoms they observe and the bowel movement of their kid. Based on these details, doctor may order for tests to confirm HD.

X-ray starts with injecting a solution of barium into the intestine through anus. The barium fills the large intestine and shows it clearly in the X-ray. If HD is the cause then the end segment of large intestine is narrower than normal. But just before this narrow region the intestine will look bulged. This bulging is due to the presence of stool in the large intestine, confirming HD.

A test called Manometry is more often done in older children and adults. During this procedure, the doctor inflates a balloon inside the rectum; in normal condition the rectal muscle relaxes but in HD the rectal muscle do not relax.

Biopsy is the most accurate test, where the doctor takes a small sample of the large intestine and checks it under the microscope, if no nerve cells are seen then HD is confirmed.

Treatment

Surgery is the best way to treat HD. Surgery involves the removal of the segment of large intestine, which does not have the nerve cells (ganglia) and then the healthy part of colon is joined with the anus. This surgery is called the pull through procedure. Hirschsprung disease surgery can be done in two steps.

Step 1involves cutting the healthy colon from the affected colon. Then the healthy colon is moved into the opening of the abdomen where a small pouch (stoma) is created by folding the intestine. The stoma usually lies outside the body collecting stool. This pouch has to be emptied several times a day.

Step 2is done after few months, when the surgeon removes the pouch and the affected colon, and connects the healthy part of colon with the anus. This surgery can be done as a single step surgery also only if the baby is healthy and the large intestine does not contain stool. This surgery is done through the anal opening without making any cut in the abdomen.

After surgery

After surgery, kids usually feel good as they are able to pass stool and gas more easily than before. Older kids should learn to take care of their stoma pouch and clean it often. Many kids often fell embarrassed in being different from others, it is the duty of parents to explain them and make them understand.

In the beginning after surgery, the stool are usually loose but as time goes by constipation is more likely to be a major problem.

It is recommended that parents talk to their dietician about food plan for their kids. Giving food with high fiber and fluid will help kids with constipation.

Some kids find it difficult to pass stool without laxatives. The major complication after surgery for HD is development of a condition called as enterocolitis. This is a serious infection of the colon resulting in severe diarrhea. In this condition kids often require intravenous fluid and antibiotics. Enterocolitis is very common in the first few years after surgery later it occurs rarely after 6 years.