HIRSCHSPRUNG’S

DISEASE
OR
MEGACOLON
MS. VIDYA JUNEJA
MYENTRIC PLEXUS:- MAJOR NERVE SUPPLY TO THE
GASTROINTESTINAL TRACT.
Hirschsprung’s disease is also called as congenital
aganglionic megacolon. It occurs due to congenital
absence of the parasympathetic ganglionic nerve cells,
both in muscle layer or submucosal layer of distal
colon & rectum, which result in extreme dilatation of
the colon. It involves varying length & even the whole
of the colon. Most commonly affect part is the
rectosigmoid colon.
 DEFINITION
• Hirschsprung's disease is a condition that affects the large intestine
(colon) and causes problems with passing stool.

• A newborn who has Hirschsprung's disease is usually unable to have a

bowel movement in the first days after birth. In mild cases, the condition
might not be detected until later in childhood.

• It is a disorder of the gut caused due to congenital absence of the

ganglion cells in the sub-mucosal and mesenteric plexus of the intestine.
• It is also known as megacolon or congenital aganglionic megacolon.

• Consequently, stool backs up, causing either partial or complete bowel

obstruction.

• Eventually, a bacterial infection can develop in the digestive tract,

causing serious problems. Severe worsening of the obstruction can
lead to a hole in the bowel (perforation) and severe infection.

• All children with Hirschsprung’s disease require surgical treatment.

 RISK FACTORS
• Occurs more frequently in boys than in girls, with as many as four
boys affected for every girl.

• Children with Down syndrome have a substantially at higher risk

• Genetic (inherited) cause

• The chance is higher if it is the mother who has the condition.

• If a family has a child with Hirschsprung’s disease, there is a 3 percent

to 12 percent chance that another baby will also have it
 CAUSES
• It's not clear what causes Hirschsprung's disease. It sometimes occurs

in families and may in some cases be associated with a genetic

mutation.

• Hirschsprung's disease occurs when nerve cells in the colon don't form

completely. Nerve cells are critical to the functioning of the colon.

They control the regular muscle contractions that keep food moving

through the bowels.

• As a baby develops before birth, bundles of nerve cells (ganglia)
normally 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 who have Hirschsprung's disease, the nerve-
growing process fails to finish. Most commonly, ganglia fail to form
(aganglia) in the last segment of the colon — the rectum and the
sigmoid colon. Sometimes aganglia affects the entire colon and even
part of the small intestine.
PATHOPHYSIOLOG
Y Due to absence of ganglionic cells

There is lack of peristalsis in the affected portion

Functional obstruction of the colon

Accumulation of gas and feces proximal to the defect

Enlargement of the colon occurs, so it is also known as megacolon

 SYMPTOMS
• In older children, signs and
• Signs and symptoms of Hirschsprung's disease vary
with the severity of the condition. Usually signs and symptoms can include:
symptoms appear shortly after birth, but sometimes
they're not apparent until later in life. • Swollen belly

• Typically, the most obvious sign of Hirschsprung's • Chronic constipation

disease is a newborn's failure to have a bowel
movement within 48 hours after birth. • Gas

Other signs and symptoms in newborns may include: • Failure to gain weight
• Swollen belly
• Vomiting, including vomiting a green or brown • Fatigue
substance
• Sepsis
• Constipation or gas, which might make a newborn
fussy
• Loss of appetite
• Diarrhea
 DIAGNOSIS
• Careful physical examination is required, and physical findings are
dependent upon the age at presentation and the severity of the
condition.
• Abdominal X-ray: This may indicate a bowel blockage (diagnosis,
not definitively diagnose it).
• Contrast enema: This is a procedure performed to examine the large
intestine (colon) for abnormalities. A contrast agent is given into the
rectum in order to coat the inside of organs so that they will show up
on an X-ray. This is the most valuable radiologic study for establishing
the diagnosis.

• An X-ray of the abdomen will show a narrowed colon, obstruction and

dilated (exceptionally enlarged) intestine above the obstruction.
• Rectal biopsy: This procedure will establish the diagnosis of
Hirschsprung’s disease. A sample of the cells in the rectum is taken and
then looked at under a microscope. Confirmation of Hirschsprung’s is
based on the absence of ganglion cells and the presence of non-
myelinated nerves in the biopsy segment.

In infants, a suction rectal biopsy can be done at the bedside. Since

there are no sensory nerves at the site of biopsy, this is not painful.
When a suction biopsy is inconclusive, surgical biopsy is performed
under general anesthesia in the operating room.

• Ano-rectal manometry: This determines whether normal reflexes

involving the rectum and the anus are present. Used only in older
children, the test can be performed at the bedside.
 SURGERY
• Hirschsprung's disease is treated with surgery to bypass the part of the

colon that has no nerve (ganglia) cells. The lining of the diseased part

of the colon is stripped away, and normal colon is pulled through the

colon from the inside and attached to the anus. This is usually done

using minimally invasive (laparoscopic) methods, operating through

the anus.
• In children who are very ill, surgery may be done in two steps.

• First, the abnormal portion of the colon is removed and the top, healthy

portion of the colon is connected to a small hole (ostomy) the surgeon

creates in the child's abdomen. Stool then leaves the body through the

ostomy into a bag that attaches to the end of the intestine that protrudes

through the hole in the abdomen. This allows time for the lower part of

the colon to heal.

Ostomy procedures include:

• Ileostomy: With an ileostomy, the doctor removes the entire colon.

Stool leaves the body through the end of the small intestine.

• Colostomy: With a colostomy, the doctor leaves part of the colon

intact. Stool leaves the body through the end of the large intestine.

• Later, the doctor closes the ostomy and connects the healthy portion of
the intestine to the rectum or anus.

• In a small percentage of children, the entire colon and sometimes a part

of the small intestine lacks nerves. The usual treatment in this case is
to remove the colon and connect remaining healthy bowel to the anus.
 SWENSON PROCEDURE
In this surgery:

• The aganglionic colon is resected just above the anus.

• Anus is closed, mobilized and everted outside the perineum.

• Ganglionic colon is brought outside the everted anus and anastomosis

is done outside.

• Anastomosis is done obliquely, cutting the internal sphincter

posteriorly.

• After anastomosis, the anastomosed anus and colon are pushed inside.
 DUHAMEL PROCEDURE
In this surgery:
• Rectum is retained and closed. Aganglionic colon proximal to it is resected.

• Ganglionic colon is brought in pelvis behind retained rectum. A transverse incision,

about3-4 cm wide is given in the posterior wall of the rectum, 1.5-2 cm above the
verge.

• Posterior wall of the rectum is anastomosed with anterior wall of pulled colon side
by side, by applying crushing clamps above the incision.

• Posterior wall of the pulled colon is anastomosed with posterior anal wall by
interrupted silk sutures at anal verge. After removal of crushing clamps, a new
rectum is created.
 SOAVE’S PROCEDURE
In this surgery:

• Rectum is retained but mucosa is removed.

• Aganglionic colon is excised.

• Ganglionic colon is pulled through the muscle sleeve of rectum and

anastomosed with anus.