Hirschsprung’s Disease (HD)
NICU Parent /Caregiver Information
Children’s Health Service, Wellington Hospital
You may have recently discovered that your baby
has been diagnosed as having Hirschsprung’s
Disease (HD). The aim of this information is to
provide you with general information about HD
and to inform you as to how the disease is
treated.
diseased section includes only part of the large
intestine; it may be ‘standard length’ or ‘short
segment HD’. Sometimes the nerve cells are
missing from the whole large intestine and even
parts of the small intestine. This is called
‘longsegment HD’ or ‘total colonic HD’.
What is Hirschsprung’s Disease?
How many babies have HD?
Hirschsprung’s disease occurs when some of the
nerve cells (ganglion cells) that are normally
present in the wall of the bowel (intestine) do not
form properly while baby is developing during
pregnancy.
For every 5000 babies born, 1 will be diagnosed
with HD. It is also more common in boys than
girls, with 4 boys being diagnosed to 1 girl.
Normally the nerve cells grow from the top of the
gastro-intestinal tract all the way to the anus.
Healthy large intestine. Nerve cells are found throughout
the large intestine.
A child’s gastro-intestinal tract
The nerve cells produce a wave-like motion of the
intestine which pushes stool (baby’s bowel
motion, poo) towards the anus where it is pushed
out. This movement is called peristalsis.
With HD, the nerve cells stop growing before they
reach the anus. No one knows why this happens.
H.D large intestine. Nerve cells are missing from the last
segment of the intestine
Symptoms and Diagnosis
When the nerve cells are missing the healthy
muscles of the intestine push the stool until it
reaches the area without nerve cells. At this point
the stool stops moving. New stool then begins to
back-up behind it and the intestine can become
partially or completely obstructed (blocked), and
begins to expand to a larger than normal size.
The length of the affected intestine varies. If the
HD may be considered in a term baby who has
not passed their first stool within 24-48 hours
following birth. Other symptoms include poor
feeding, vomiting, enlarged abdomen and
constipation.
Less commonly, the baby at first seems to be
normal and may even breast feed normally.
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However, there may be times when baby does
not pass any stool for several days and their
tummy (abdomen) may become a little swollen
(distended). This is usually followed by several
days of diarrhoea (loose stool). This can be
difficult to tell apart from the usual normal pattern
in breast fed babies who often will not pass a
stool for several days and then pass one or 2
large loose stools.
In babies who have HD, the not passing a stool
for several days and then passing one or 2 large
loose stools continues and usually becomes more
noticeable as baby is weaned from breast
feeding.
Normally a baby/child will pass a stool once or
twice a day becomes once they are weaned.
If HD is suspected the following investigations
may be performed:
opening beside the stoma which leads to the
abnormal bowel and down to the anus.
Step 1: Some of the diseased segment of bowel may be
removed.
Contrast enema - contrast solution is pushed into
the anus/rectum through a tube. This allows the
surgeon to assess the look and capacity of the
large intestine. In HD the part of the bowel without
nerve cells is usually narrower than the normal
bowel.
Rectal Biopsy - the surgeon removes a tiny
piece of the intestine by inserting a surgical
instrument into the baby/child’s anus/rectum and
taking one or two small pieces of the lining of the
bowel. This is looked at under a microscope. If
the nerve cells are missing then HD is the
diagnosis. This is the most accurate test for HD.
Surgery
Once a diagnosis of HD is made surgery is the
only treatment option. Depending on the
circumstances this may be done as one operation
or it may require 2 steps. Sometimes the
abnormal piece of bowel can be removed or
bypassed at one operation but if necessary then a
stoma will be formed initially and at a later date a
definitive operation will be done to get rid of the
stoma and to join the bowel together again. The
stoma is a temporary measure.
To form a stoma the surgeon may take out some
of the diseased part of the intestine. They then
form a small hole in baby’s tummy/abdomen and
the surgeon then joins the top part of the intestine
to the stoma. Stool leaves the body through this,
into an attached bag (rather than out the
baby/child’s anus) while the bottom part of the
intestine heals. There is usually a second smaller
Step 2: The healthy intestine is moved to an opening in the
abdomen where a stoma is created. Note: the second
smaller opening is not illustrated.
Stoma Surgery
There are two common corrective surgeries; the
Duhamel procedure and the Soave procedure.
Each procedure is done a little differently.
The Soave procedure leaves the outer wall of the
lower intestine intact, removing the lining of the
rectum and bringing normal bowel down to the
anus inside the muscular tube.
The Duhamel procedure uses a method to
connect the normal bowel to the rectum. Before
this surgery is performed the HD can be managed
by bowel wash-outs for a period of time advised
by your surgeon.
After surgery the baby/child has a working
intestine.
Management / Treatment
If a stoma is made then advice and support will
be provided to you on how to manage and care
for it.
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After a Soave operation your baby may need to
have rectal dilatations in order to stretch the
bowel area (where the newly joined intestine is) if
it becomes narrow. If these are required then they
would continue until the bowel has been stretched
to the correct size.
When the stoma is closed, baby will start to pass
stool through the anus again and it will be
frequent and loose. At this time baby’s skin is
susceptible to severe nappy rash and use of a
good skin barrier cream is essential. It is
advisable to prepare baby’s skin 3-4 weeks prior
to this operation by placing some of baby’s stool
from the colostomy on to the nappy and have
baby wear the nappy for 30-60mins. This should
be done several times a day.
Contact details
After hours medical centres
Kenepuru Hospital Accident & medical
Open 24hrs a day everyday (04) 918 2300
Paraparaumu -Team Medical Coastlands
Shoppingtown
Open 8am -10pm everyday (04) 298 2228
Waikanae
Mon-Thurs 7pm-8am, Fri 5pm-8am, and at
anytime during weekends or Public Holidays
(04) 293 6002
Accident & Urgent medical centre Wellington
Open 8am-11pm every day. No appointment
necessary (04) 384 4944
Adjusting after surgery
Some children may have diarrhoea for a while
after surgery and continued skin care is required.
Eventually the stool will become more solid and
there will be fewer stools passed.
Infection
Infections can be very dangerous for a child with
HD. An infection of the large or small intestines is
called enterocolitis. Baby/children can be at risk
of infection both before and after their surgery.
If after discharge from the hospital, your
baby/child shows any of these signs or symptoms
of infection you need to seek urgent medical
attention as enterocolitis can be life threatening.
Healthline
If you are unsure if your child needs to visit your
GP or After hours medical centre you may wish to
call Healthline for free advice. Call free anytime
on 0800 611 116.
Remember In an emergency call 111
Adapted from the National Institute of Diabetes
and Digestive and Kidney Diseases (USA), and
Pull-thru Network.
Signs and symptoms of infection:
 Diarrhoea (loose, watery motions)
 Fever
 Vomiting (especially bile green stained
vomit)
 Swollen tummy
 Crying persistently, drawing knees up to
tummy
 Pale skin colour and lethargic (no energy)
GA PIB-94 Vn 2 Issued September 2013 Review September 2016
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