Disease: Hirschsprung's disease

    Overview

    Hirschsprung's (HIRSH-sproongz) 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.

    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.

    Surgery to bypass or remove the diseased part of the colon is the treatment.

    Source: http://www.mayoclinic.com

    Symptoms

    Signs and symptoms of Hirschsprung's disease vary with the severity of the condition. 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

    In older children, signs and symptoms can include:

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

    Source: http://www.mayoclinic.com

    Causes

    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.

    Hirschsprung's disease occurs when nerve cells in the colon don't form completely. Nerves in the colon control the muscle contractions that move food through the bowels. Without the contractions, stool stays in the large intestine.

    Source: http://www.mayoclinic.com

    Diagnosis

    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.

    Source: http://www.mayoclinic.com

    Complications

    Children who have Hirschsprung's disease are prone to a serious intestinal infection called enterocolitis.

    Enterocolitis can be life-threatening. It's treated in the hospital with colon cleaning and antibiotics.

    Source: http://www.mayoclinic.com

    Lifestyle and home remedies

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

    • 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. Because 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, 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.

    Source: http://www.mayoclinic.com

    Risk factors

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

    • 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.

    Source: http://www.mayoclinic.com

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