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Hirschsprung's Disease

  • Definition

    This disease is the congenital absence of autonomic ganglia in the smooth muscle wall of the colon, resulting in poor or absent peristalsis in the involved segment of colon, accumulation of feces, and dilatation of the bowel (megacolon).


    hirschsprung's disease is named after the 19th century doctor, Harold Hirschsprung, who first identified it in 1886.

    Hirschsprung's disease, or congenital intestinal aganglionosis (CIA), is a lack of nerve (ganglion) cells in a segment of the bowel. This interferes with the squeezing action (peristalsis) which normally moves stool through the intestines.

    In the majority of children, the disease is limited to the rectum or rectosigmoid areas.


    This is a congenital problem with no known cause. There are more males with the disease. The ratio of males to females may be as high as 4:1.

    In cases of long segment disease involving more than half of the large intestine (colon), the ratio of boys to girls is lower.


    In the newborn period, diagnosis may be considered when an infant does not pass meconium (first stools of a newborn) within 24 hours after birth, brings up a lot of mucus which may be bile-stained, or shows signs of abdominal distention. For this reason, it is important for hospital newborn nurseries to chart bowel movements.

    In older infants, Hirschsprung's disease may be suspected because of severe gastroenteritis with persistent diarrhea and abdominal distention. Most infants with normal bowel function rarely have a distended belly with diarrhea.

    Occasionally, the diagnosis is not made until the child is older, at which time there is usually a history of constipation and bowel problems from birth.


    The best test to confirm the diagnosis of Hirshsprung’s Disease is a rectal biopsy that can be done at the bedside. If there are no nerve ganglion cells, then the child can be diagnosed with the disorder. If necessary, the biopsy can be repeated. Rectal manometry (measure of pressures in the rectum when a balloon is inflated), barium enema or plain film x-rays can also be helpful to the physician in clarifying the diagnosis.


    In most cases, surgeons now repair the defect in one procedure. The section of rectum and colon that lacks nerve control is removed and the healthy section of the rectum/colon is then attached to the anal sphincter. The reason surgeons do this is so they can reestablish a normal bowel with control of defecation at the anus. Diarrhea is a common complication after surgery. It may take several months for the child’s body to adjust to a shorter bowel available to absorb water to make stools more firm. A less common complication is narrowing around the line where the two parts were sewn together. This can occasionally result in life-threatening bowel obstruction and infection. In the vast majority of cases, children achieve satisfactory bowl control and stool frequency and consistency over several years.

    Occasionally, the surgeon cannot perform at one-stage procedure to correct this problem. In this case, a temporary colostomy or ileostomy may be performed. These are surgically created openings of the colon or ileum (lower part of the small intestine) to the body wall. A bag especially designed for collecting waste is attached to the skin by an adhesive substance.

    The opening is called a stoma and is pink or red in color. Sometimes a bag device is not used. Ointments and gauze placed around the stoma with a diaper covering is an alternative. The colostomy or ileostomy will not bother the baby.

    When the child reaches the weight, age or condition desired by your surgeon, reconstructive surgery should take place and the colostomy/ileostomy closed.

    In short segment cases, operations are essentially the same in that the affected bowel is removed and the healthy colon brought down and connected above the anus. A portion of the affected bowel is sometimes left in place in long segment cases to increase fluid absorption by providing additional bowel surface.


    How much of the colon is involved?

    Will a temporary colostomy or ileostomy be necessary?

    When will reconstructive surgery be done?

    How will waste elimination occur?

    What type of stoma will be created?

    Should the child have counseling? Where?