Hirschsprung's disease

Description

Hirschsprung's (HIRSH-sproongz) is a disease that affects the large intestine (colon) and causes problems with passing stool. The condition is present at birth (congenital) as a result of the lack of nerve cells in the muscles of the baby's colon. Without these nerve cells, stimulating the bowel muscles to help move the contents through the colon, the content of the backup and cause blockages in the gut.

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. Uncommonly, Hirschsprung's disease is first diagnosed in adults.

The surgery to prevent or eliminate the affected part of the colon is the treatment.

Symptoms

The signs and symptoms of Hirschsprung's disease vary with the severity of the condition. Generally, the signs and symptoms appear shortly after birth, but sometimes are not evident until later in life.

Normally, the most obvious sign of which is a newborn, not to have a bowel movement within 48 hours after birth.

Other signs and symptoms in newborns may include:

  • Swollen belly
  • Vomiting, including vomiting a substance that is green or brown
  • Constipation or gas, that could make a newborn fussy
  • Diarrhea
  • Delayed passage of meconium — a newborn infant's first bowel movement

In older children, the signs and symptoms may include:

  • Swollen belly
  • Chronic constipation
  • Gas
  • Failure to thrive
  • Fatigue

Causes

It is not clear what causes Hirschsprung's disease. Sometimes occurs in families and, in some cases, be associated with a genetic mutation.

Hirschsprung's disease occurs when nerve cells in the colon does not completely form. The nerves in the colon of control of muscle contractions that move food through the intestines. Without the contractions, the stool stays in the large intestine.

Risk factors

Factors that may increase the risk of Hirschsprung's disease include:

  • Having a brother that has the Hirschsprung's disease. Hirschsprung's disease can be inherited. If you have a child who has the condition, future biological siblings may be at risk.
  • The fact of being a man. Hirschsprung's disease is more common in males.
  • Have other inherited conditions. Hirschsprung disease is associated with certain inherited conditions, such as Down syndrome and other abnormalities present at birth, such as congenital heart disease.

Complications

Children who have Hirschsprung's disease are prone to a serious intestinal infection called enterocolitis. Enterocolitis can be life-threatening and requires immediate treatment.

Hirschsprung's disease

Diagnosis

Your child's doctor will perform a physical exam and ask questions about bowel movements. He or she may recommend one or more of the following tests to diagnose or rule out Hirschsprung's disease:

  • The removal of a sample of colon tissue for testing (biopsy). This is the most secure way to identify Hirschsprung's disease. A biopsy sample may be collected using a suction device, is then examined under a microscope to determine if the nerve cells are missing.
  • Abdominal x-ray using a means of contraste.De barium or another contrast dye is placed into the bowel through a tube that is inserted into the rectum. The barium fills and covers the lining of the bowel, creating a clear silhouette of the colon and rectum. The X-ray, often show a clear contrast between the narrow part of the intestine without nerves and normal, but often swollen section of intestine behind him.
  • Measurement of control of the muscles around the rectum (anal manometry). A manometry test is usually performed in older children and adults. The doctor inflates a balloon inside the rectum. The surrounding muscle must relax as a result. If not, Hirschsprung's disease could be the cause.

Abdominal x-ray using a contrast dye. Barium or another contrast dye is placed into the bowel through a tube that is inserted into the rectum. The barium fills and covers the lining of the bowel, creating a clear silhouette of the colon and rectum.

The X-ray, often show a clear contrast between the narrow part of the intestine without nerves and normal, but often swollen section of intestine behind him.

Treatment

For most people, Hirschsprung's disease is treated with surgery to prevent or eliminate the part of the colon lacking nerve cells. There are two ways of doing this: a pull-through surgery, or ostomy surgery.

Pull-through surgery

In this procedure, the lining of the affected part of the colon is stripped away. Then, the normal section is drawn through the colon from the inside and is attached to the anus. This is usually done using minimally invasive surgery (laparoscopic) methods, which operates through the anus.

Ostomy surgery

In children who are very ill, the surgery could be performed in two steps.

In the first place, the abnormal portion of the colon is removed and the top, the healthy part of the colon is connected to an opening, the surgeon creates in the child's abdomen. Stool, then exits the body through the opening into a bag that is connected 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.

Once the colon has had time to heal, a second procedure is performed to close the stoma and connect the healthy part of the intestine, the rectum or the anus.

Results of surgery

After surgery, most children are able to pass stool through the anus.

The possible complications that may improve with time are:

  • Diarrhea
  • Constipation
  • Leakage of stool (fecal incontinence)
  • Delays in toilet training

Children remain at risk of developing an infection of intestine (enterocolitis) after surgery, especially in the first year. Call your doctor right away if you have any of the signs and symptoms of enterocolitis occur, such as:

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

Self-care

If your child has constipation after surgery for Hirschsprung's disease, discuss with your doctor whether to treat any of the following:

  • Serve foods rich in fiber.If your child eats solid foods, including foods rich in fiber. Offer whole grains, fruits and vegetables, and limit white bread, and other low-fiber foods. Due to a sudden increase in foods rich in fiber can make constipation worse in the first place, add foods rich in fiber to your child's diet slowly. If your child is not eating solid foods, however, ask your doctor about formulas that might help relieve constipation. Some babies may need a feeding tube for a while.
  • Increase fluids. Encourage your child to drink more water. If a part or the whole of your child's colon was removed, your child may have problems absorbing enough water. Drinking more water can help your child stay hydrated, which can help to relieve constipation.
  • Encourage physical activity. Journal of aerobic activity helps to promote regular bowel movements.
  • Laxatives (only as directed by your child's doctor). If your child does not respond or cannot tolerate the increase in fiber, water, physical activity, certain laxatives — drugs to stimulate bowel movements — can help relieve constipation. Ask your doctor if you should give your child laxatives, how often you should do it, and about the risks and benefits.

Serve foods rich in fiber. If your child eats solid foods, including foods rich in fiber. Offer whole grains, fruits and vegetables, and limit white bread, and other low-fiber foods. Due to a sudden increase in foods rich in fiber can make constipation worse in the first place, add foods rich in fiber to your child's diet slowly.

If your child is not eating solid foods, however, ask your doctor about formulas that might help relieve constipation. Some babies may need a feeding tube for a while.

Preparing for your appointment

Hirschsprung's disease is often diagnosed in the hospital shortly after birth, or signs of the disease show up later. If your child has signs or symptoms that concern you, in particular, constipation, and bloating in the abdomen, talk to your doctor.

You may be referred to a specialist in digestive disorders (gastroenterologist) or to the emergency department if your child's symptoms are severe.

Here's some information to help you prepare for your appointment.

What you can do

When you make the appointment, ask if there is something that your child needs to do in advance, such as fasting for a specific test. Make a list of:

  • Your child signs or symptoms, including details about the movements of the bowel frequency, consistency, color, and the pain associated
  • Your child's key medical information, including other conditions that he or she has the family's medical history and
  • All the medications, vitamins, or supplements your child is taking and how much water he or she drinks in a typical day
  • Questions to ask your child's doctor

Have a friend or family member, if possible, to help you remember the information they give you.

For Hirschsprung's disease, basic questions to ask your doctor include:

  • What is likely causing my child's symptoms?
  • What are other possible causes?
  • What evidence does my child need?
  • What is the best course of action to relieve the symptoms?
  • If you recommend the surgery, what should I expect from my child's recovery?
  • What are the risks of the surgery?
  • What is my son, the long-term prognosis after the surgery?
  • Does my child need to follow a special diet?
  • Are there brochures or other printed material I can have? What sites do you recommend?

Do not hesitate to ask other questions.

What to expect from your doctor

Your child's doctor is likely to ask questions such as:

  • When his son did symptoms begin?
  • You have the symptoms worsened?
  • How often does your child have a bowel movement?
  • Are the painful stools?
  • Are your child's stools loose? Contain blood?
  • Has your child been vomiting?
  • Does your child get tired easily?
  • What, if anything, seems to improve the symptoms of your child?
  • What, if anything, appears to worsen the symptoms of your child?
  • There is a family history of similar intestinal problems?
Symptoms and treatment of Hirschsprung's disease