Hirschsprung disease is a birth defect in babies in which part of the large intestine is unable to move waste properly.
This causes a blockage in the large intestine of a newborn baby.
The large intestine includes the colon and rectum.
After digested food moves through the small intestine, it enters the large intestine.
As it moves through the colon, water and salt are absorbed, and solid waste forms.
The waste enters the rectum, which pushes it out of the body through the anus.
During a normal pregnancy, nerve cells travel down the developing nervous system to the growing digestive system, including the large intestine.
These nerve cells develop into ganglion cells,
between the muscle layers of the large intestine.
The ganglion cells send nerve signals to the muscle layers to contract and relax.
These contractions are part of a series of wavelike motions that push waste along the length of the large intestine.
In a newborn baby, this movement pushes waste along the length of the large intestine toward the rectum and anus.
If the developing baby has Hirschsprung disease, these cells either don’t reach this area or don’t become functioning ganglion cells when they get there.
When this baby is born, a section of the large intestine does not have ganglion cells.
It can also extend for a short segment, or a longer segment involving the colon, or rarely, the entire colon.
Without ganglion cells to signal the intestinal wall to relax, this area of the large intestine stays contracted and narrow, blocking the passage of waste and gas.
As waste and gas build up behind the blockage, the large intestine and abdomen begin to swell.
The baby may develop an intestinal infection, called enterocolitis.
Then, the intestine may stretch further and cause vomiting and nutrition problems.
A baby with Hirschsprung disease will need a surgical procedure to remove the diseased section of his or her large intestine.
Until the baby is ready to have this procedure, he or she will need rectal irrigations.
This procedure will help remove gas and waste several times a day, which helps prevent infection.
The most common surgical procedure for Hirschsprung disease is called a laparoscopically-assisted transanal pull-through.
During the procedure, the surgeon will make three or four tiny incisions in the baby’s abdomen
and insert a thin, lighted camera and special instruments.
The surgeon will use these instruments to loosen and remove the diseased intestine’s attachments to the body.
To remove the diseased intestine, the surgeon will make a circular incision in the baby’s rectum inside of the anus.
Then, the surgeon will pull the diseased intestine out through the baby’s anus, and remove it.
The remaining healthy intestine will be sutured to the baby’s anus.
This new connection will form a tube that can properly move waste out of the body.
At the end of the procedure, the surgeon will remove the instruments and close the abdominal incisions with sutures or skin closure tape.
Since most of the procedure will be done through the anus, there will be no incisions to close outside the anus.