What is Hirschsprung’s Disease and How Is It Treated?

Hirschsprung’s disease, a congenital and rare condition, occurs in the intestine and can cause serious problems.

Let’s see what causes Hirschsprung’s disease, what affects it and how is it treated?

What is Hirschsprung’s disease?

Hirschsprung’s disease is the obstruction and enlargement of the large intestine. The nerves that are at the end of the intestines of babies who have this disease and that allow them to relax have not developed and are absent in the mother’s womb. Hirschsprung’s disease is therefore a congenital disorder and is therefore seen in newborn babies.

Under normal conditions, a baby defecates through the relaxation of the enteric nerves in the last part of the contracting intestine. However, the last part of the contracted intestine of a baby with Hirschsprung’s disease cannot relax and thus a blockage occurs. Therefore, the stool cannot move forward and out of the intestine. As a result, enlargement develops in the upper part of the intestine.

What are the causes of Hirschsprung’s disease?

Although the exact cause of this condition is not known, genetic defects are thought to be effective in the development of the disease. Among other reasons;

• Intestinal failure to fully develop due to premature birth ,
• Down syndrome ,
• There are conditions such as Edward’s syndrome.

What are the symptoms of Hirschsprung’s disease?

The most prominent feature of Hirschsprung’s disease in infants is constipation. In the case of a newborn, difficulty in passing his first stool, called meconium, can be considered the first symptom of the condition.

Constipation caused by Hirschsprung’s disease is so severe that babies may not even respond to medications. In this case, it may even be possible to make them relax by making an enema.

Apart from these;

• abdominal bloating,
• biliary vomiting,
• developmental delay,
• Fever without cause is also a symptom of the disease.

How is Hirschsprung’s disease diagnosed?

When a specialist is consulted with the above symptoms, first of all, colon radiography is applied. In this procedure, blocked and enlarged sections of the intestine are diagnosed. Then, the more decisive rectal biopsy is performed. In this procedure, a piece of the large intestine, which is slightly above the baby’s anus, is taken and examined. If enteric nerve tissues are not found in the piece taken, Hirschsprung’s disease is mentioned.

How is Hirschsprung’s disease treated?

The only treatment method for Hirschsprung, a disease that seriously affects the health of the baby, is surgery.

However, newborn babies may not be ready for this surgical intervention. For this reason, ostomy, which is a temporary intervention, can be applied. The purpose of this procedure is to relieve the baby from defecating until he is 1 year old.

The ostomy procedure allows a part of the large intestine to be removed from the abdominal wall, allowing defecation to occur. In other words, stool does not go through the anus, it is emptied directly outside the body into the bag connected by the intestine. While this idea may sound scary to parents, it is a temporary measure.

When the baby is 12-18 months old, it is ready for the main process called pulling. In the pulling process, the narrow and missing nerve cells of the intestine are removed. The remaining part of the intestine is connected directly to the anus.

What happens after surgery for Hirschsprung’s disease?

After the surgery, the baby may experience constipation for a while. In some cases, diarrhea and vomiting are also seen. But these are temporary problems. Bowel movements of babies who have surgery for Hirschsprung’s disease often return to normal.

In addition, if there is a developmental delay in the baby after the surgery for Hirschsprung’s disease, this problem can disappear and development can progress as it should.