Hirschsprung’s Disease In Infants: Causes, Symptoms & Treatment

Hirschsprung’s disease is a congenital condition affecting the large intestine. The disorder causes problems in passage of stool soon after birth. This occurs due to missing of nerve cells in the intestine. Normally the muscles of bowel rhythmically contract and push the stool through to the rectum. In hirschsprung’s disease, the nerve cells which control the muscles are absent, hence the feces do not move forward to the rectum.

In some cases a small segment of intestine may have missing nerve cells and in other cases the nerve cells may be absent in large part of intestine. It is a rare disorder affecting 1 in 5000 live births. Constipation, intestinal obstruction, vomiting, swelling of abdomen are some of the symptoms that may be seen in neonate suffering from this illness.

The exact cause is not known, but some people inherit this condition while some may have mutations of gene.

Hirschsprung’s disease can be successfully treated with surgery.

What Is The Cause Of Hirschsprung Disease?

The exact cause of hirschsprung’s disease is not known. It develops when the nerve cells in the colon do not completely develop. The missing nerve cells may be in certain part of the colon or may be absent in large part of colon. The nerves in colon instruct the muscles to contract and move the feces forward to the rectum and anus. However, when the nerve cell in certain part is absent, the muscles of that portion will not contract hence the stool formed cannot be pushed forward. This may lead to intestinal obstruction and constipation.

Hirschsprung’s disease seems to have a hereditary trait meaning the genes are passed from parents to the child. It may also develop as an isolated genetic mutation in the child, but it has nothing to do with the mother while she was pregnant.

Many patients with hirschsprung’s disease have some other associated congenital disorder such as Down’s syndrome. Hirschsprung’s disease is more common in boys as compared to girls.

Symptoms Of Hirschsprung’s Disease In Infants

The symptoms of hirschsprung’s disease usually start within 2 days after birth. But in some infants it may develop within 6 weeks after birth. Often within first two days the babies suffering from hirschsprung’s disease do not pass meconium, the dark fecal content that is usually passed within 48 hours after birth. Other symptoms that may develop soon after birth include:

  • Swelling of the abdomen.
  • Green or brown colored vomiting.
  • Constipation
  • Gases
  • Diarrhea that may contain blood in stool.
  • Explosive stools in digital examination.

If a small part of intestine has missing nerve cells, the symptoms may not be apparent initially. It may take months or years to develop. Following are the symptoms that may be seen:

  • Patient may have severe chronic constipation and may have to regularly use laxatives, and stool softeners.
  • Distension of abdomen.
  • Regularly feeling gassy.
  • Concomitant symptoms such as decreased height and weight.

Treatment For Hirschsprung’s Disease

Before starting any treatment Hirschsprung’s disease has to be diagnosed. If the doctor suspects it be the cause, he will recommend certain tests. A small tissue biopsy from the bowel is examined under microscope. If the tissue does not contain nerve cells, it confirms hirschsprung’s disease.

Treatment of hirschsprung’s disease is surgical repair of the intestine. However, it will depend on the child age, overall health, and his or her medical condition. Surgery involves removal of the part of intestine that is without nerve cells or bypassing of the intestinal part.

Most surgeries are successful and the prognosis is good. However, certain care needs to be taken after recovering from surgery. The child must not remain constipated. He must drink enough water. At the same time if the child is older, than he must eat more of fiber containing foods such as whole grains and vegetables.

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