Hirschsprung'S Disease

1 What is Hirschsprung's Disease?

Hirschsprung's disease is a congenital (present at birth) disorder of large intestine (colon) that causes obstruction in bowel movement.

It occurs due to “missed” nerve cells in the muscles of part of or the entire colon.

The condition affects a newborn’s ability to pass stool within first few days after birth. Mild form of Hirschsprung’s disease is generally detected later in childhood.

Treatment includes a surgery to skip or eliminate the affected portion of the colon.

2 Symptoms

The signs and symptoms of Hirschsprung's disease depend upon the disease severity. Though signs and symptoms become noticeable within first few days of birth, some mild cases may manifest later in childhood.

If your child is born with this condition, s/he cannot evacuate the first stool within 48 hours after birth.

The signs and symptoms in newborns include:

  • Swollen belly
  • Vomiting, including vomiting a green or brown substance
  • Constipation or gas
  • Diarrhea

The signs and symptoms in older children are:

  • Swollen belly
  • Chronic constipation
  • Gas
  • Not gaining weight normally
  • Tiredness
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3 Causes

The exact cause of Hirschsprung's disease is unclear. Genetic association of the condition can be found in some cases.

It may occur when your child is born with incompletely formed nerve cells in his/her colon. These nerve cells regulate the contractions of muscles in the colon of your baby.

Normally, the nerve cell formation begins before birth and continues till birth as bundles of nerves (ganglia) are formed along the length of the colon starting from the top of the colon to its end (rectum).

Hirschsprung's disease results in cessation of this process before the nerves have developed in the last part of the colon that includes the rectum and the sigmoid colon.

Most often, babies born with this condition have their rectum and sigmoid colon missing the nerves (aganglia).

In some cases, whole of your baby’s colon and portion of small intestine may be affected.

4 Making a Diagnosis

The diagnosis of Hirschsprung's disease is normally made within some hours after birth while some signs may develop later.

Discuss with your doctor if you observe any signs or symptoms like constipation and a swollen abdomen in your baby. Your doctor may refer you to a digestive disorders specialist (gastroenterologist). If symptoms are severe, your baby needs emergency care.

How to prepare yourself for the visit?

Getting prepared for the visit can optimize the therapy and help make the visit more fruitful. List out all the symptoms. DO NOT FORGET to mention frequency, color and consistency of your baby’s stool.

Write down your key medical information. Write down the names of all your medications, vitamins or supplements. Inform your child’s doctor about the amount of baby’s fluid intake.

Make a list of the questions to ask your doctor

Some typical questions can be:

  • What could be possible causes of my child's signs and symptoms?
  • What are the tests needed?
  • Is there any condition other than Hirschsprung's disease?
  • What are the treatment options?
  • How much would surgery be helpful?
  • What about the risks of complications from surgery?
  • How do you see my child’s prognosis after surgery?
  • Is a special diet required for my child?
  • Does my child need to follow other restrictions?

What your doctor wants to know?

A clear talk with your doctor can optimize the therapy and improve the outcomes. Prepare yourself to answer some essential questions from your doctor.

Your doctor might ask you typical questions like:

  • When did the symptoms start appearing?
  • Have these symptoms changed over time?
  • What’s the frequency of your child’s bowel movement?
  • Does your child experience pain while passing stool?
  • Have you noticed blood in your child’s stool?
  • Is your child’s stool loose or hard?
  • Do you know if your child has been vomiting?
  • Is your child low on energy?
  • Does anything improve or aggravate your child's symptoms?
  • Does your child have a history of Hirschsprung's disease, thyroid, parathyroid or glandular disease?
  • Can you provide me the list of medicines your child is currently taking?

The diagnostic tests for Hirschsprung's disease include:

Barium enema X-ray

It involves X-ray of the rectum, colon and part of the small intestine by using barium to make the X-ray images more clear. The images help your child’s doctor detect the areas of colon that do not contain nerves.

Anorectal manometry or motility test

This test assesses coordination of the muscles during bowel evacuation in your child.

Rectal biopsy

A small sample of tissue is removed from the lining of the rectum and sent for laboratory analysis.

5 Treatment

Treatment for Hirschsprung's disease includes a surgery.

Surgery is performed to skip the part of the colon with missed nerves.

The affected part of colon is removed and normal colon is pulled downwards, and connected to the anus. Most often, the surgery is performed by laparoscopic methods which are less invasive.

However, there is also a method for very ill children, which includes two steps:

  • The affected part is removed surgically. The top, healthy portion of the colon is joined to a small surgically made outlet (ostomy) in the child's abdomen, from where the stool is removed into a bag attached to the protruding end of the intestine. Ostomy procedures include: 
    • Ileostomy. In an ileostomy, the entire colon is removed. Stool is eliminated through the end of the small intestine.
    • Colostomy.In a colostomy, only the affected colonic segment is removed. Stool is eliminated through the end of the large intestine.
  • Ostomy is sealed and healthy portion of the intestine is linked to the rectum or anus

Results of surgery

Diarrhea may be present in some children who have undergone such surgery while most do not experience any problem.

If your child has been through such surgery, be patient and teach your child patience as toilet training can last longer.

Problems that might linger long after surgery are continued constipation, swollen belly and leaking of stool (soiling).

The first year after surgery is crucial as your child is at risk of serious bowel infection (enterocolitis).

If your observe any of these warning signs in your children, call the doctor immediately:

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

6 Lifestyle and Coping

Lifestyle modifications are necessary for your child after Hirschsprung's disease surgery.

Here are some tips to manage constipation that may occur in your child after the surgery:

  • Offer high-fiber foods: If your child takes solid foods, give him/her high-fibers foods like whole-wheat bread. Remember to increase the amount of fiber intake slowly because a sudden rise in fiber intake can worsen your child’s constipation. Solids foods are not meant for your child, ask your doctor about appropriate replacements.
  • Minimize intake of refined grains.
  • Ask your child to eat fruits and vegetables.
  • Limit intake of fatty animal-source foods, such as meat and butter.
  • Increase fluid intake: Water is the best drink and it can keep your child hydrated while easing the symptoms of constipation.
  • Encourage your child to participate in physical activity.
  • Consult your child's doctor to know more about using laxative, its risk and benefits.

7 Risks and Complications

There are several risks and complications associated with Hirschsprung's disease.

Risks

If Hirschsprung's disease is present in your other child, the risk for your recent child is also increased. In such case, the risk is increased for even future biological children.

Sex

Males are at increased risk of Hirschsprung's disease.

Accurrence of other inherited conditions

Hirschsprung's disease has some links with certain inherited conditions, such as:

  • inherited heart problems,
  • Down syndrome,
  • multiple endocrine neoplasia, type IIB.

Complications

Hirschsprung's disease can make your child more prone to a serious life-threatening infection of the intestines called enterocolitis.

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