Hirschsprung Disease

February 2, 2017

Hirschsprung’s disease (also called colonic aganglionosis) is a blockage of the large intestine due to improper muscle movement in the bowel. It is a congenital condition, which means it is present from birth. Hirschsprung’s disease affects one in every 5,000 babies.

Normally, the muscles in the bowel squeeze rhythmically to push faeces (poo) through to the rectum. In Hirschsprung’s disease, the nerves that control these muscles (ganglion cells) are missing from part of the bowel. This means that faeces cannot be pushed through the bowel in the usual way.

Sometimes the ganglion cells are missing throughout the whole large intestine and even parts of the small intestine. When the diseased section of the intestine reaches or includes the small intestine, it is called long-segment disease. When the diseased section includes only part of the large intestine, it is called short-segment disease.

The length of the affected part of bowel varies from child to child. Most commonly the rectum and/or sigmoid colon (the last parts of the large bowel) are affected. The entire colon is affected only very rarely.

The problems a child will experience with Hirschsprung’s disease depend on how much of the intestine has normal nerve cells present.


HD develops before a child is born. Normally, nerve cells grow in the baby’s intestine soon after the baby begins to develop in the womb. These nerve cells grow down from the top of the intestine all the way to the anus. With HD, the nerve cells stop growing before they reach the end.

It is unclear why the nerve cells stop growing; however, there is no evidence that it is caused by the mother’s actions or activities while she is pregnant.

Hirschsprung’s disease causes about 25% of all newborn intestinal blockages. It occurs five times more often in males than in females. Hirschsprung’s disease is sometimes linked to other inherited or congenital conditions, such as Down syndrome.

Risk Factors

Factors that may increase the risk of Hirschsprung’s disease include –

Having a sibling who has Hirschsprung’s disease – Hirschsprung’s disease can be inherited. If you have one child who has the condition, future biological children also might be at risk.

Being male – Hirschsprung’s disease is more common in males.

Having other inherited conditions – Hirschsprung’s disease is associated with certain inherited conditions, such as inherited heart problems and Down syndrome. It may also be associated with multiple endocrine neoplasia, type IIB — a syndrome that causes noncancerous tumors in the mucous membranes and adrenal glands (located above the kidneys) and cancer of the thyroid gland (located at the base of the neck). Roughly a third of children who have Hirschsprung’s disease have other abnormalities.


Symptoms of HD usually show up in very young children. Sometimes, however, they don’t appear until the teenage years or adult life. Symptoms that may be present in newborns and infants include –

  • Difficulty with bowel movements
  • Failure to pass meconium shortly after birth
  • Failure to pass a first stool within 24 – 48 hours after birth
  • Infrequent but explosive stools
  • Jaundice
  • Poor feeding
  • Poor weight gain
  • Vomiting
  • Watery diarrhea (in the newborn)

Symptoms in older children –

  • Constipation that gradually gets worse
  • Fecal impaction
  • Malnutrition
  • Slow growth
  • Swollen belly


  • Inflammation and infection of the intestines (enterocolitis) may occur before surgery, and sometimes during the first 1 – 2 years afterwards. Symptoms are severe, including swelling of the abdomen, foul-smelling watery diarrhea, lethargy, and poor feeding.
  • Perforation or rupture of the intestine
  • Short bowel syndrome, a condition that can lead to malnourishment and dehydration


A procedure called serial rectal irrigation helps relieve pressure in (decompress) the bowel.

The abnormal section of colon must be taken out with surgery. Most commonly, the rectum and abnormal part of the colon are removed. The healthy part of the colon is then pulled down and attached to the anus.

Sometimes this can be done in one operation. However, it is often done in two parts. A colostomy is performed first. The other part of the procedure is done later in the child’s first year of life.

Pull through Surgery – For this operation, the end of the bowel that does not have nerve cells is completely or almost completely removed, and bowel that does contain nerve cells is attached to the anal opening. After surgery, stool comes from the normal anal opening. In some cases the pull through surgery can be done in a single operation, but if the child is very ill or the bowel is very dilated, it is more common to create a temporary ostomy.

Ostomy – This is a connection between the inside of the bowel and the skin on the abdomen. Colostomy means the connection is to the colon, whereas an ileostomy is a connection between the end of the small bowel and the skin. A small plastic bag is attached to the opening to collect stool.

Alternative Treatment

Sodium Supplements – Some patients, particularly those whose entire colon is affected by Hirschsprung disease, may need an ileostomy for many months and sometimes years The ileostomy can cause the body to lose sodium, something that the child needs in order to absorb nutrients from what they eat. For that reason, children with an ileostomy are often prescribed sodium supplements by their doctor. Doctors will also monitor the child’s growth carefully to make sure that they are getting the nutrients they need to develop normaly.

Vitamins – Prevents constipation.

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