Hirschsprung (HERSH-sproong) disease affects the large
intestine (colon) of newborns, babies, and toddlers. It makes them have trouble
emptying their bowels. Most of the time, the problems with pooping start at birth,
although in milder cases symptoms may appear months or years later.
Treatment almost always requires surgery. Fortunately, most children who have surgery
are fully cured and able to pass bowel movements (BMs) normally.
Hirschsprung disease can cause constipation,
diarrhea, and vomiting. Sometimes
it leads to serious colon complications, like enterocolitis
and toxic megacolon, which can be life-threatening. So it's important to diagnose
and treat Hirschsprung disease as early as possible.
What Are the Signs & Symptoms of Hirschsprung Disease?
The symptoms of Hirschsprung disease can vary depending on how severe it is. Children
with severe cases usually will have symptoms within the first few days of life.
Newborns with Hirschsprung disease may:
be unable to pass stool within the first or second day of life
have a swollen belly, bloating, or gas
vomit (which may look green or brown)
A newborn who can't poop within the first 48 hours of life is often how doctors
find Hirschsprung disease. This red flag can be very valuable in diagnosing
Less severe cases might not be spotted until a child is a little older, or sometimes
even later. Symptoms in these cases are usually milder but can be long-lasting (or
). They can include:
a swollen belly
trouble gaining weight
Older kids with Hirschsprung disease might have a growth delay because the condition
can affect the body's ability to absorb nutrients.
What Causes Hirschsprung Disease?
Hirschsprung disease prevents bowel movements (stool) from passing through the
intestines due to missing nerve cells in the lower part of the colon. It's caused
by a birth defect.
Normally, the large intestine moves digested material through the gut by a series
of contractions called peristalsis. This is controlled by nerves
between the layers of muscle tissue in the intestine.
Children who have Hirschsprung disease are missing those nerves along part of the
length of their colons. This prevents the colon from relaxing, which can cause a blockage
of digested material and make it hard for poop to pass.
When Hirschsprung disease affects the entire large intestine, it's called long-segment
disease. When it affects a shorter length of the colon closer to the rectum,
it's called short-segment disease. It's more common for nerve cells
to stop developing closer to the rectum. That's because in the womb, an unborn baby's
cells develop on a pathway that starts at the top of the large intestine and ends
near the rectum. In Hirschsprung disease, nerve cells stop developing while on that
Who Gets Hirschsprung Disease?
Doctors aren't sure why some children get Hirschsprung disease. But they do know
it can run in families. It also affects boys more often than girls. Children with
Down syndrome and genetic
heart conditions also have an increased risk of Hirschsprung disease.
How Is Hirschsprung Disease Diagnosed?
To diagnose Hirschsprung disease, doctors often do a test called a barium
enema. Barium is a dye put into the colon using an enema. The barium shows
up well on X-rays and can help doctors get a clearer picture of the colon. (In kids
with Hirschsprung disease, the intestine usually appears too narrow where the nerve
cells are missing.)
In some cases, the doctor might do a rectal suction biopsy. This
test, which can often be done in the office, involves using a suction device to remove
some cells from the colon's mucous lining. This test will show if nerve cells are
For older kids, doctors may use different tests, such as manometry
or a surgical biopsy. Manometry is a test in which a balloon is inflated
inside the rectum to see if the anal muscle relaxes as a result. If the muscle doesn't
relax, the child may have Hirschsprung disease. In a surgical biopsy,
the doctor removes a sample of tissue from the colon to examine under a microscope.
How Is Hirschsprung Disease Treated?
Surgery is thought to be the most effective treatment for Hirschsprung disease.
This is done in one step or two, depending on how severe it is. Children who are very
sick at the time of surgery (from an inflamed colon or poor nutrition) may need to
undergo surgery in two steps.
The most common surgery to correct Hirschsprung disease involves removing the section
of the colon without nerves and reattaching the remaining section to the rectum. Often,
this can be done in one step through minimally
invasive (laparoscopic) surgery right after the condition is diagnosed.
In some cases, the doctor may do the surgery in two steps.
In the first surgery:
The doctor will remove the unhealthy section of the colon. Then, in a procedure
called an ostomy, the doctor creates a small hole, or stoma,
in the child's abdomen and attaches the upper, healthy section of the colon to the
The two types of ostomy are:
Ileostomy: removing the entire large intestine and connecting
the small intestine to the stoma
Colostomy: removing just a section of the colon
The child's stool passes through the stoma into a bag that is connected to it,
which needs to be emptied several times a day. This allows the lower part of the colon
to heal before the second surgery.
In the second surgery:
The doctor closes the hole and attaches the normal section of the colon to the
What Happens After Surgery?
After surgery, kids often get constipated.
Laxatives can offer some relief, but check with your doctor about which would be best
for your child.
For children old enough to eat solid foods, a high-fiber
diet can ease and prevent constipation. Drinking plenty of water is also important,
and helps prevent dehydration.
The large intestine helps absorb water from food, so dehydration can be a concern
for children who have had part of their intestine removed.
Kids who still have symptoms or get new ones after surgery (such as explosive and
watery diarrhea, fever, a swollen belly, or bleeding from the rectum) should have
medical attention right away. These can be signs of enterocolitis, an inflammation
of the intestines.
Most children treated surgically for Hirschsprung disease have an excellent outcome.
Most can pass stool normally and have no lasting complications. A few kids might continue
to have symptoms, including constipation and bowel control problems.