What is Hirschsprung’s disease?
Hirschsprung's disease (also called colonic
aganglionosis) is a blockage of the large intestine due to improper muscle
movement in the bowel. It is a
congenital condition, which means it is present from birth.
In Hirschsprung's disease, certain
types of nerve cells (called ganglion cells) are missing from a part of the
bowel.In areas without such nerves, the
muscle within the bowel wall does not contract to push material through, which
causes a blockage. Intestinal contents
build up behind the blockage, swelling the bowel and abdomen.
Hirschsprung's disease causes about
25% of all newborn intestinal blockages, but is also identified in older babies
and children. It occurs five times more often in males than in females.
Hirschsprung's disease is sometimes associated with other inherited or
congenital conditions, such as Down syndrome.
- Difficulty or straining with bowel movements
- Failure to pass meconium (stool) shortly after birth (within
24 - 48 hours)
- Infrequent but explosive stools
- Poor feeding
- Poor weight gain
- Watery diarrhea (in the newborn)
- Constipation that gradually gets worse (patients may
need to take laxatives regularly)
- Fecal impaction
- Slow growth
Milder cases may not be diagnosed
until a later age. During a physical examination, the doctor may be able to
feel loops of bowel in the swollen belly. A rectal examination may reveal a
loss of muscle tone in the rectal muscles.
Tests used to help diagnose
Hirschsprung's disease may include:
- Abdominal x-ray
- Barium enema – an x-ray that shows the shape of the
rectum and colon.
- Anal manometry – measurement of pressure within the
rectum using an inflatable balloon
- Rectal biopsy – this uses a suction tube to collect tissue
from the inside of the rectum. This
tissue can then be examined under a microscope to determine if ganglion
cells are present. Although biopsy
results can sometimes be inconclusive, this is usually the best test to
determine if a child with symptoms has the disease.
Before the operation, a procedure
called serial rectal irrigation helps relieve pressure in (decompress) the
bowel. The abnormal sections of colon and rectum must be removed with surgery
to permit the child to pass stools easily. The healthy part of the colon is
then moved into the child’s pelvis and attached to the anus.
Sometimes this can be done in one
operation but it is often done in two parts (also called a “staged procedure”).If performed in one operation, the surgeon
will connect the colon to the anus immediately after removing the abnormal
colon and rectum. If performed as a
staged procedure, first step is to remove the diseased colon and rectum,
followed by a colostomy. When a
colostomy is performed, the cut edge of the large intestine is brought to an
opening that is made through the wall of the abdomen. This allows bowel contents to empty into a
bag. Later, when the child’s weight,
age, and condition have improved, a pull-through procedure is performed, which
removes the colostomy and connects the large intestine to the anus to permit
the child to pass normal bowel movements.
Symptoms improve or go away in most
children after surgery. A small number of children may have constipation or
problems controlling stools (fecal incontinence). Generally speaking, children who
are treated early and those with limited disease (which allows the surgeon to
leave more healthy bowel in place) have a better outcome.
of Pediatric General Surgery at Johns Hopkins Children's Center treats Hirschsprung’s disease.