dr. Lilia Dewiyanti, SpA, MSi.

Med
 Hirschsprung's disease is a condition that affects
the large intestine (colon) and causes problems
with passing stool
 It's present when a baby is born (congenital) and
results from missing nerve cells in the muscles of
a portion of the baby's colon.
 Children with Hirschsprung's disease can be
constipated or have problems absorbing
nutrients from food
 Severe cases: newborn child experiences an
obstructed colon and is unable to have a bowel
movement (mild cases: undetected)
 Vary with the severity of the condition
 Appear right after a baby is born, or teenager/
adult
 Newborns:
 Failure to pass stool within the first or second day of
life
 Vomiting, including vomiting a green liquid called bile
— a digestive fluid produced in the liver
 Constipation or gas, which may make a newborn
fussy
 Diarrhea
 Older children:
 Swollen abdomen
 Lack of weight gain
 Problems absorbing nutrients, leading to weight loss,
diarrhea or both and delayed or slowed growth
 Infections in the colon, especially in newborns or very
young children, that may include enterocolitis, a
serious infection with diarrhea, fever and vomiting
and sometimes a dangerous expanding (dilation) of
the colon
 Older children/adults:
 chronic constipation
 a low number of red blood cells (anemia) because
blood is lost in the stool. Anemia can cause an
affected person to look pale and to tire easily
 Normal baby grows in the womb, bundles of
nerve cells (ganglia) begin to form between the
muscle layers along the length of the colon
 This process begins at the top of the colon and
ends at the bottom (rectum).
 In children with Hirschsprung's disease, this
process does not finish and the ganglia do not
form along the entire length of the colon
 Sometimes the cells are missing from only a few
centimeters of the colon, other times a longer
portion may be affected
 Unknown
 It may be associated with:
 mutations in several genes
 multiple endocrine
neoplasia, type IIB — a
syndrome that causes
noncancerous tumors in the
mucous membranes and
adrenal glands (located
above the kidneys) and
cancer of the thyroid gland
(located at the base of the
neck).
 Hirschsprung's is not caused by anything that
the mother does during pregnancy
 In some cases, the disease may be inherited,
even if neither parent has the disease
 Hirschsprung's is also 10 times more likely to
occur in children with Down syndrome
 The disease is also five times more common
in males
 Muscles in the colon wall separate waste into
small segments that are pushed into the lower
colon and rectum
 In people with Hirschsprung's disease, the
muscles can't do their job and waste is unable to
move through the entire length of the colon
 Because Hirschsprung's disease can be inherited,
if you have one child with the disease, your
future children also may be at risk
 Abdominal X-ray stool backs up in the colon,
the X-ray may reveal decreased air in the colon
or areas in which the colon has stretched wider
than normal
 Barium enemaa clear silhouette of the colon
and rectum
 Manometry a balloon inflated inside the
rectum: the anal muscle doesn’t relaxed
 Biopsy sample of colon tissue studied under a
microscope: missing ganglia nerve cells
 Pull-through surgery: removing the section of
the colon that has no ganglia cells, then
connecting the remaining healthy end of the
colon to the rectum
 Two steps surgery:
 I Remove the abnormal portion of the colon
without ganglia cells, and perform an ostomy
(ileostomy or colostomy)
 II Connect the healthy portion of the colon to the
rectum.
 Diarrhea (difficulty coordinating the muscles
used to pass stool toilet training
 Constipation
 Enterocolitis (fever, swollen abdomen,
vomiting, diarrhea, bleeding from the rectum)
 Short bowel syndrome
 Malnutrisi