Definition

What is hirschsprung?

Hirschsprung’s disease is a condition that affects the large intestine (colon) and causes problems with passing stool. The condition is present at birth (congenital) as a result of missing nerve cells in the muscles of the baby’s colon. This results in the blockage of the large intestine due to poor muscle movement in the bowel

A newborn who has hirschsprung’s disease usually can’t have a bowel movement in the days after birth. In mild cases, the condition might not be detected until later in childhood.

How common is hirschsprung?

Hirschsprung can affect patients at any age. It can be managed by reducing your risk factors. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of hirschsprung?

Signs and symptoms of hirschsprung’s disease vary with the severity of the condition. It usually signs and symptoms appear shortly after birth, but sometimes they’re not apparent until later in life.

Typically, the most obvious sign is a newborn’s failure to have a bowel movement within 48 hours after birth. Other signs and symptoms in newborns may include:

  • Swollen belly;
  • Vomiting, including vomiting a green or brown substance;
  • Constipation or gas, which might make a newborn fussy;
  • Diarrhea;
  • Difficulty with bowel movements;
  • Failure to pass meconium shortly after birth;
  • Failure to pass a first stool within 24 to 48 hours after birth;
  • Infrequent but explosive stools;
  • Jaundice;
  • Poor feeding;
  • Poor weight gain.

In older children, signs and symptoms can include:

  • Swollen belly;
  • Chronic constipation;
  • Gas;
  • Failure to thrive;
  • Fatigue;
  • Fecal impaction;
  • Malnutrition;
  • Slow growth.

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you have any signs or symptoms listed above or have any questions, please consult with your doctor immediately. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Hirschsprung’s disease can be serious if left untreated, so it’s important to get help as soon as possible.

Causes

What causes hirschsprung?

Muscle contractions in the gut help digested foods and liquids move through the intestine. This is called peristalsis. Nerves between the muscle layers trigger the contractions. In hirschsprung disease, the nerves are missing from a part of the bowel. Areas without these nerves cannot push material through. This causes a blockage. Intestinal contents build up behind the blockage.  The bowel and abdomen swell as a result.

It’s not clear what causes hirschsprung’s disease. It sometimes occurs in families and might, in some cases, be associated with a genetic mutation

Risk factors

What increases my risk for hirschsprung?

There are many risk factors for hirschsprung, such as:

  • 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 could 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 Down syndrome and other abnormalities present at birth, such as congenital heart disease.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is hirschsprung diagnosed?

Your child’s doctor will perform an exam and ask questions about your child’s bowel movements. He or she might recommend one or more of the following tests to diagnose or rule out hirschsprung’s disease:

  • Abdominal X-ray using a contrast dye: Barium or another contrast dye is placed into the bowel through a special tube inserted in the rectum. The barium fills and coats the lining of the bowel, creating a clear silhouette of the colon and rectum. The X-ray will often show a clear contrast between the narrow section of bowel without nerves and the normal but often swollen section of bowel behind it.
  • Measuring control of the muscles around the rectum: A manometry test is typically done on older children and adults. The doctor inflates a balloon inside the rectum. The surrounding muscle should relax as a result. If it doesn’t, hirschsprung’s disease could be the cause.
  • Removing a sample of colon tissue for testing (biopsy): This is the surest way to identify hirschsprung’s disease. A biopsy sample can be collected using a suction device, then examined under a microscope to determine whether nerve cells are missing.

How is hirschsprung treated?

Surgery to bypass the part of the colon that has no nerve cells treats hirschsprung’s disease. The lining of the diseased part of the colon is stripped away, and normal colon is pulled through the colon from the inside and attached to the anus. This is usually done using minimally invasive (laparoscopic) methods, operating through the anus.

In children who are very ill, surgery might be done in two steps.

First, the abnormal portion of the colon is removed and the top, healthy portion of the colon is connected to an opening the surgeon creates in the child’s abdomen. Stool then leaves the body through the opening into a bag that attaches to the end of the intestine that protrudes through the hole in the abdomen (stoma). This allows time for the lower part of the colon to heal.

Ostomy procedures include:

  • Ileostomy: The doctor removes the entire colon and connects the small intestine to the stoma. Stool leaves the body through the stoma into a bag.
  • Colostom: The doctor leaves part of the colon intact and connects it to the stoma. Stool leaves the body through the end of the large intestine.

Later, the doctor closes the stoma and connects the healthy portion of the intestine to the rectum or anus.

After surgery, most children pass stool normally — although some may have diarrhea at first. Toilet training may take longer because children have to learn how to coordinate the muscles used to pass stool. Long term, it’s possible to have continued constipation, a swollen belly and leaking of stool (soiling).

Children continue to be at risk of developing a bowel infection (enterocolitis) after surgery, especially in the first year. Be aware of signs and symptoms of enterocolitis, and call the doctor immediately if any of these occur:

  • Bleeding from the rectum;
  • Diarrhea;
  • Fever;
  • Swollen abdomen;

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage hirschsprung?

The following lifestyles and home remedies might help you cope with Hirschsprung:

  • Serve high-fiber foods: If your child eats solid foods, include high-fiber foods. Offer whole grains, fruits and vegetables and limit white bread and other low-fiber foods. The reason is that a sudden increase in high-fiber foods can worsen constipation at first, add high-fiber foods to your child’s diet slowly. If your child isn’t eating solid foods yet, you should ask the doctor about formulas that might help relieve constipation. Some infants might need a feeding tube for a while.
  • Increase fluids: Encourage your child to drink more water. If a portion or all of your child’s colon was removed, your child may have trouble absorbing enough water. Drinking more water can help your child stay hydrated, which may help ease constipation.
  • Encourage physical activity: Daily aerobic activity helps promote regular bowel movements.
  • Laxatives: If your child does not respond to or can’t tolerate increased fiber, water or physical activity, certain laxatives — medications to encourage bowel movements — might help relieve constipation. Ask the doctor whether you should give your child laxatives and about the risks and benefits.

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: January 4, 2017 | Last Modified: January 4, 2017

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