Hirschsprung’s Disease Symptoms, Diagnosis, Causes, Treatment

Read about Hirschsprung’s Disease Symptoms, Diagnosis, Causes, Treatment.
Hirschsprung’s disease in adults, infants. Hirschsprung’s disease diet and radiology.

Hirschsprung’s disease is a condition that affects the large intestine (colon) and causes problems with passing stool. It is a developmental disorder characterized by absence of ganglia in the distal colon, resulting in a functional obstruction.

Hirschsprung’s disease is congenital (present when a baby is born) and results from missing nerve cells in the muscles of part or the baby’s entire colon. Hirschsprung’s disease causes about 25% of all newborn intestinal blockages. A newborn that has Hirschsprung’s disease is usually unable to have a bowel movement in the first days after birth. In mild cases, the condition might not be detected until later in childhood.

Hirschsprung's Disease Symptoms, Diagnosis, Causes, Treatment

Hirschsprung’s Disease Symptoms, Diagnosis, Causes, Treatment

Let’s review about Hirschsprung’s Disease Symptoms, Diagnosis, Causes, Treatment.

Hirschsprung’s Disease Symptoms

Hirschsprung’s disease should be considered in any newborn that fails to pass meconium within 24-48 hours of birth. Signs and symptoms of Hirschsprung’s disease vary with the severity of the condition.

Symptoms that may be present in newborns and infants include:

  • Difficulty with bowel movements
  • Failure to pass meconium shortly after birthwithin 24 – 48 hours after birth
  • Infrequent but explosive stools
  • Jaundice
  • Poor feeding
  • Poor weight gain
  • Vomiting
  • Watery diarrhea

Symptoms in older children:

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

Hirschsprung’s Disease Causes

Before birth, a child’s nerve cells normally grow along the intestines in the direction of the anus. With Hirschsprung’s disease, the nerve cells stop growing too soon. Why the nerve cells stop growing is unclear. Some Hirschsprung’s disease is inherited, meaning it is passed from parent to child through genes.

Hirschsprung’s disease is not caused by anything a mother did while pregnant. Approximately 20 percent of cases of Hirschsprung’s disease occur in multiple members of the same family. Children with Down syndrome and genetic heart conditions also have an increased risk of Hirschsprung’s disease. It occurs five times more often in males than in females.

Hirschsprung’s Disease diagnosis

Hirschsprung’s disease is diagnosed based on symptoms and test results.

Physician will perform a physical exam and ask questions about your child’s bowel movements. Hirschsprung’s disease is much less likely if parents can identify a time when their child’s bowel habits were normal. If Hirschsprung’s disease is suspected, the doctor will do one or more following tests:

Barium Enema

To diagnose Hirschsprung’s disease, doctors often do a test called a barium enema. Barium is a dye that is put into the colon using an enema. The barium shows up better on X-rays and can help doctors get a clearer picture of the colon.

X rays

An X-ray is a black and white picture of the internal organs of the body. To make the large intestine show up better, the doctor may fill it with barium liquid. Barium liquid is inserted into the large intestine through the anus.

The last segment of the large intestine will look narrower than normal. Just before this narrow segment, the intestine will look bulged. The bulging is caused by blocked stool stretching the intestine.


During manometry, the doctor inflates a small balloon inside the rectum. Normally, the rectal muscles will relax. If the muscles do not relax, Hirschsprung’s disease may be the problem. This test is most often done in older children and adults.


Biopsy is the most accurate test for Hirschsprung’s disease. The doctor removes a tiny piece of the large intestine and looks at it with a microscope. If nerve cells are missing, Hirschsprung’s disease is diagnosed.

Hirschsprung’s Disease Treatment

Specific treatment for Hirschsprung’s disease will be determined by your child’s doctor based on the following:

  • The extent of the problem
  • Child’s age, overall health and medical history
  • Child’s tolerance for specific medications, procedures or therapies
  • Expectations for the course of the disorder
  • The opinion of the health care providers involved in the child’s care
  • Guardians opinion and preference

Surgery is thought to be the most effective treatment for Hirschsprung’s disease. This could be done by:

Pull-through Procedure

Hirschsprung’s disease is treated with surgery called a pull-through procedure. A surgeon removes the segment of the large intestine lacking nerve cells and connects the healthy segment to the anus. The pull-through procedure is usually done soon after diagnosis.


If your child’s condition is serious, a colostomy will be used to give the lower part of the colon time to heal after the abnormal section is removed. This involves making a tiny hole called a stoma in the abdomen and attaching the upper part of the colon to it. Your child’s stool will leave through the stoma and enter a collection bag, which has to be changed several times each day.

Depending on the length of the removed intestine, the stoma may be permanent. However, if the intestine heals properly, as is usually the case in children, the stoma can be surgically closed and the colon surgically joined to the rectum.

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