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Hirschsprung's Disease

more about Hirschsprung's Disease


  • This condition is a severe Constipation problem that is present from birth in most cases, and (in very mild cases) presents itself later in childhood.  (Note: If you do not want to read more of the description, move on to the CAUSES.)
  • The fetus has a thick, pasty, black material in the bowel, instead of stool.  This pasty material is called meconium.  The first few bowel movements of the newborn eliminate the meconium, and then the baby passes stool.
  • A wave of squeezing contractions moves the meconium, or the stool, toward the anal opening.  The contractions wouldn't do any good unless the bowel relaxes in the segment that is going to receive the meconium or the stool.
  • The problem in Hirschprung's disease is that the relaxation never occurs, and the tight spasm of the part of the colon nearest the anal opening prevents the meconium or stool from getting near the anal opening.  This means that when the physician sticks his gloved finger in the rectum (of a Hirschprung's patient) there isn't any stool there.
  • In almost all Hirschprung's patients, the segment of colon that will not relax is located 2 to 10 inches from the anal opening, and that is the situation that we will discuss in this writing.  The muscular rings of tissue exactly at the anal opening (sphincters) do have the ability to relax.

  • Almost every normal infant will have a first bowel movement of meconium within 48 hours of birth.  The chief symptom in this condition: the baby does not pass meconium in the first 48 hours, and is constipated during the first year of life.
  • If the segment of rectum that is affected by Hirschprung's is really short, the baby might pass meconium (escaping detection) but then go on to have chronic Constipation as an infant.
  • The infants who are not detected in early infancy go on to lose protein from their intestinal wall into the stool, so they become protein-depleted, which causes edema (body swelling), and Failure to Thrive (poor growth).
  • The abdomen becomes very distended with stool.  Feeling the mass through the abdominal wall, it is most likely on the left; and it feels like stool (not like gas).
  • The colon tends to get infected with bacteria.  This is called enterocolitis.  It leads to generalized infection, called Sepsis, and bowel obstruction, both of which make the infant seriously ill.

  • Specific nerve bundles in the colon (large intestine), present in the normal person, are absent in part of the colon in those afflicted with Hirschsprung's disease.  These nerve bundles are called ganglion cells, and they allow the tight muscle contractions in the wall of the colon to relax.  This allows the meconium (or stool) to pass through this segment of colon.
  • If ganglion cells are missing from a point in the colon 2-10 inches from the anal opening, then meconium (or stool) stops when it reaches this part (the part that is in spasm).  The segment in spasm will not open up.  Meconium backs up in the rest of the colon.
  • Usually, this lack of ganglion cells occurs only in the rectum, and in the piece of the colon just before the rectum (called the sigmoid).

  • History: this is an infant who did not pass meconium in the first 48 hours; is constipated; has a distended abdomen; and digital examination with a rectal glove shows no stool in the rectum.
  • One way to definitively diagnose this condition is to perform a biopsy of the colon (the physician snips off a small piece of colon) to prove that ganglion cells are absent.  This piece is usually snipped from the rectum, at least an inch inward from the anal opening.
  • The main reason that the biopsy cannot be snipped from the tissue right next to the anal opening is that this area normally has only a few ganglion cells, and the physician is looking for absence of ganglion cells in the biopsy site.  Right next to the anal opening, a biopsy might miss the few ganglion cells, and the biopsy would look like "absence of ganglion cells."
  • Another way to diagnose Hirschprung's disease is to look at the characteristic shape of the colon on a barium enema.  Barium, which is white on an X-ray (in the technique used in the U.S.), will show a large bulky white collection of barium in most of the colon, but a thin stringy white collection of barium in the segment of colon affected by Hirschprung's disease.  This is because the colon in that segment will not relax from its spasm, and the spasm squeezes the barium into a thin white column.  The X-ray shows the diagnosis when there is a sharply-defined "transition zone" between the normal wide area of colon and the thin, stringy part of the colon that has spasm.
  • A difficulty occurs with the barium enema technique if the entire colon is affected by Hirschprung's disease.  In that case, there is no "transition zone" in the colon, making the diagnosis more difficult
  • Another way to diagnose Hirschprung's disease is to see if distending the rectum with a balloon will relax a muscular ring of tissue in the anus (a reflex relaxing of the internal anal sphincter).  In Hirschprung's, this normal relaxation might not occur.
  • All of these techniques require great skill in order to interpret the results correctly.


  • If the neonate has a blockage of the intestine, this is corrected surgically by removing the meconium or stool at the point of blockage.  Unblocking the intestinal obstruction does not correct the defect, which is a lack of nerve cells in the rectum and sometimes the nearby sigmoid colon.
  • A surgeon can choose from three different operations to actually correct the defect (to bring nerve cells to the rectal area).  These vary in their technical difficulty.  The end result of any of these operations is to place a normal piece of bowel next to the anal opening, so that the child can expel stool and not let it pile up behind a segment of bowel that will not expel it.  Generally, the surgery is successful in correcting the condition in infancy or early childhood.

  • Complications of Hirschsprung's disease itself:
    1. Intestinal obstruction in the newborn period often occurs because meconium does not get pushed out of the intestine and forms a blockage.  The blockage ends up requiring surgery to un-clog it.
    2. Marked distension of the abdomen
    3. Anemia, generalized infection
    4. Loss of protein from the body
  • Complications of the corrective surgery:
    1. Fixed narrowing at the anal orifice (anal opening)
    2. Incontinence of stool (leakage of bowel movement out of the anal opening)

  • Inform your child's physician if meconium has not passed, within 48 hours of birth, or if there is a chronic Constipation problem.
  • Report any distension of the abdomen to your child's physician.

  • A child with ordinary Constipation will have infrequent bowel movements with very hard stool.  However, a child with chronic Constipation usually does not have severe abdominal distension, and multiple other symptoms.
  • The child with ordinary Constipation usually is cured by simple measures, such as an infant-size glycerin suppository.
  • Also, a constipated child almost always has much stool in the rectum when the physician examines the child with a rectal glove.  In Hirschsprung's disease, the muscle power is lacking to push the stool to the anal opening, so the physician usually finds that the rectum is empty.




more about Hirschsprung's Disease


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