Hirschsprung’s disease | Treatment Options | Gastroenterology

Hirschsprung's disease

What is Hirschsprung’s disease?

Hirschsprung’s disease is a condition that influences the internal organ (colon) and causes issues with passing stool. The condition is present at birth (congenital) as a result of the loss of nerve cells in the child’s colon muscles.

Usually, a newborn with Hirschsprung’s disease cannot have a bowel movement in the days after birth. In mild cases, the condition may not be detected until later in childhood. Hirschsprung’s disease is rarely diagnosed in adults. Surgery to bypass or remove the diseased portion of the colon is the treatment.

Who gets Hirschsprung’s disease?

Hirschsprung’s disease occurs in approximately 1 in 5,000 births. Babies with Down syndrome and other medical problems, such as congenital heart defects, are at a much higher risk. For example, 1 in 100 children with Down syndrome also has Hirschsprung’s disease.

Hirschsprung’s disease is congenital or present from birth; however, symptoms may or may not be apparent at birth. In the event that you have a kid with Hirschsprung’s disease, the odds of having a larger number of youngsters with Hirschsprung’s disease are more prominent than individuals who don’t have a kid with Hirschsprung’s disease. Also, if a parent has Hirschsprung’s disease, the chance of their child developing Hirschsprung’s disease is higher. Talk to your doctor to find out more.

What are the symptoms of Hirschsprung’s disease?

Symptoms vary with age. Eighty per cent of babies with Hirschsprung’s disease develop symptoms in the first six weeks of life. However, children who have only a short portion of the intestine that lacks normal neurons may not develop symptoms for several months or years. Their primary symptom is constipation.

Each baby may experience symptoms differently, but include symptoms common in infants:

  • Inability to have a bowel movement for the first 48 hours of life
  • Flatulence (flatulence)
  • The gradual emergence of vomiting
  • Fever
  • Constipation or failure to pass regular bowel movements

Babies who do not show early symptoms may have the following signs of Hirschsprung’s disease as they get older:

  • Constipation that gets worse over time
  • Anorexia
  • Delayed growth
  • Passing small, watery stools
  • Abdominal distension

What causes Hirschsprung’s disease?

During the early development of a baby in the mother’s womb, nerve cells stop growing near the end of the baby’s intestine, causing Hirschsprung’s disease. Most of these cells start at the beginning of the intestine and grow towards the end. Hirschsprung’s disease occurs when these cells do not reach the end of a child’s intestine. Scientists know that genetic defects can increase a child’s chance of Hirschsprung’s disease. However, there is no test that can diagnose a baby during a mother’s pregnancy. Researchers are studying whether a mother’s health history or lifestyle during pregnancy increases her baby’s chance of developing Hirschsprung’s disease.

Diagnosis and tests of Hirschsprung’s disease

You should tell your doctor straight away if your child has these symptoms. She can confirm Hirschsprung’s disease with some specific tests:

  • A contrast enema: Also called a barium enema, after the ingredient in the dye that is often used to cover and accentuate the body’s organs from the inside. Your baby is placed face down on a table while the dye is inserted through a tube from the anus into the intestine. No anaesthesia (medication to numb or prevent pain) is needed. The dye allows the doctor to see problem areas on the X-ray. A contrast enema is performed as part of the so-called “lower digestive chain,” which is a group of tests on the digestive system.
  • An abdominal X-ray: This is a standard X-ray, which the technician may take from many angles. Your doctor will be able to tell if something is blocking your intestine.
  • biopsy: Your doctor will take a small sample of your child’s rectal tissue. The tissue will be examined for signs of Hirschsprung’s disease. Depending on your child’s age and size, the doctor may use anaesthesia.
  • Anorectal manometry: This test inflates a small balloon into the rectum to see if the muscles in the area are responding. This test is only performed on older children.


Children with Hirschsprung’s disease are at risk of developing a dangerous intestinal infection called enterocolitis. Enterocolitis can be life-threatening and requires immediate treatment.

How is Hirschsprung’s disease treated?

The medical procedure is believed to be the best therapy for Hirschsprung disease. This is done in one or two steps, depending on how severe it is. Children who were very sick at the time of surgery (from an inflamed colon or malnourished) may need to undergo two-step surgery.

The most common surgery to correct Hirschsprung disease involves removing part of the colon without nerves and reattaching the remainder to the rectum. Often times, this can be done in one step with minimally invasive (laparoscopic) surgery right after the condition is diagnosed.

In some cases, the doctor may perform the surgery in two steps.

In the first surgery:

  • The doctor will remove the unhealthy portion of the colon. Then, in a procedure called a stoma, the doctor makes a small hole, or stoma, in the child’s abdomen and attaches the healthy upper part of the colon to the hole.

The two types of ostomy are:

  1. Ileostomy: Completely removing the large intestine and connecting the small intestine to the stoma
  2. Colostomy: Removing only part of the colon

The baby’s stool passes through the opening into a bag attached to it, which needs to be emptied several times a day. This permits the lower some portion of the colon to mend before the subsequent medical procedure.

In the second surgery:

  • The doctor closes the opening and attaches the normal portion of the colon to the rectum.

What happens after surgery?

After surgery, children often become constipated. Laxatives can provide some relief, but talk to your doctor about what is best for your child.

For babies who are old enough to eat solid foods, a diet rich in fibre can relieve and prevent constipation. Drinking plenty of water is also important, and it helps prevent dehydration. The large intestine helps absorb water from food, so dehydration can be a concern for children who have had a portion of their intestine removed.

Children who still have symptoms or who develop new symptoms after surgery (such as explosive and watery diarrhea, fever, a swollen abdomen, or bleeding from the rectum) should get medical attention immediately. These could be signs of enterocolitis, which is an inflammation of the intestine.

Risk factors for Hirschsprung’s disease

Factors that may increase your risk of developing Hirschsprung disease include:

  • Having a sibling who has Hirschsprung disease: It can be genetic. If you have a child with this condition, future biological children may be at risk.
  • Being male: Hirschsprung disease is more common in males.
  • Having other inherited conditions: Hirschsprung’s disease is associated with certain genetic conditions, such as Down syndrome, and other abnormalities present at birth, such as congenital heart disease.

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