Hirschsprung’s disease

Hirschsprun The Also known

g's disease congenital as
is a absence of Congenital
blockage of autonomic Aganglioni
the large ganglia in c
intestine the Megacolon
due to smooth
improper muscle
muscle wall of the
movement colon,
in the resulting
bowel. in poor or
absent
peristalsis
in the
involved
segment
of colon,
accumulati
on of
feces, and
dilatation
of the
bowel
(megacolo
n).

Anatomy and physiology

• The large intestine is a hollow muscular tube about five feet in length.
 • It is divided into the cecum, colon, and rectum.

• The cecum comprises the first two or three inches of the large
intestine, a big pouch that receives waste material from the small
intestine.

• The colon is subdivided into the ascending, transverse, descending,

and sigmoid colon.

• most important function is the absorption of water and electrolytes

• Rectum

• The last portion of the large intestine

• extends from the sigmoid colon to the anus

• anal canal

• The last inch of the rectum.

• It contains the internal and external regulating sphincters which play

an important role in regulating defecation.

• colon

• the longest portion of the large intestine

• A storage tube for solid wastes

• the main function is the extraction of water and salts from feces.

• four sections

 ascending colon - starts at the cecum at the bottom right hand

side of the abdomen, and it ascends towards the liver or the
hepatic flexure. It is about 12.5cm long
  transverse colon - extends across the abdomen from left to
right, more specifically from the hepatic flexure to the splenic
flexure

 descending colon - from the splenic flexure to the beginning

of the sigmoid colon

 sigmoid colon - the last part of the large intestine. The walls
of the sigmoid colon are muscular and contract to increase the
pressure inside the colon, causing the stool to move into the
rectum.

Predispo
sing
Factors

Etiologic Rationale
Factors

Age Hirschsprung disease

results from a failure of
the craniocaudal
migration of ganglion
cell precursors along the
gastrointestinal tract
th
during the 5 to 12th
weeks of gestation.

Coulson,Walter

Surgical Pathology Vol.1

1978

Gender Common in males than

in females because
there is a sex difference
 in the penetrance and
expression of mutations.
RET mutation is more
likely to be transmitted
to male offspring and
the mutation is more
likely to be penetrant in
males. .

Professional Guide to
Pathophysiology 2007

Genetics Disease can be pass

through genes.
Mutations in the Ret
proto-oncogene have
been associated with
familial Hirschsprung
disease. Hirschsprung’s
disease is an autosomal
dominant because the
gene RET is dominant.

http://emedicine.medsc
ape.com/article/929733-
overview

Ethnicity More prevalent in

whites.

Lippincott Williams and

Wilkins

Professional Guide to
Pathophysiology 2007
Signs and Rationale
Symptoms

Constipatio .A person with

n Hirschsprung's
disease does not
have ganglion cells
which is responsible
in making the
intestinal muscles
push the stools in the
anus, thus resulting
in constipation and
sometimes with
bloody stool

http://www.medicine
net.com/hirschsprun
g_disease/article.htm

Anemia Children with

Hirschsprung's
disease may develop
anemia, because of
lost of blood in the
stool.

http://www.medicine
net.com/hirschsprun
g_disease/page2.htm
#tocf

Abdominal Intestine become

Distention partially or
completely
obstructed, and
begins to expand to a
 larger dimension,
than normal

http://www.lpch.org/
DiseaseHealthInfo/He
althLibrary/digest/hir
schpr.html

Medical management

1. Laboratories

 Rectal biopsy showing absence of ganglion cells allows a definitive

diagnosis. Suction aspiration, using a small tube inserted into the rectum,
may be performed initially.
 Full-thickness surgical biopsy (under general anesthesia) may be
performed if findings from suction aspiration are inconclusive.
 Barium enema in older infants, children, and adults shows a narrow
segment of distal colon with a sawtooth appearance and a funnel-shaped
segment above it to help confirm the diagnosis and identify the extent of
intestinal involvement. Significantly, infants with Hirschsprung's disease
retain barium longer than the usual 12 to 24 hours, so delayed films are often
helpful when other characteristic signs are absent.
 Rectal manometry reveals failure of the internal anal sphincter to relax and
contract.
 Upright plain films of the abdomen show marked colonic distention
2. Medications

 broad-spectrum antibiotics- for infection

 neomycin -aminoglycoside antibiotic that is found in many topical

medications such as creams, ointments, and eyedrops

 Cefoxitin- second generation cephalosporin that inhibits cell wall

synthesis

 Lactulose- used to treat constipation because it promotes peristalsis

and produces an osmotic effect in the colon.

3. Treatment
  Surgery

i. The procedure called pull-through surgery involves removing

the section of the colon that has no ganglia cells, then
connecting the remaining healthy end of the colon to the rectum

ii. If total obstruction is present: temporary colostomy or

ileostomy is necessary to decompress the colon.

Nursing management

 Provide psychological support to the patient and his family.

 Infants with hirschprungs’s disease need surgery and hospitalization

so early in life, parents may have difficulty establishing an emotional
bond with the child.

 Encourage parent to participate in their child’s care as much as possible

 To promote parent-child relatinship

 Reposition the patient more often

 To prevent skin breakdown

 Encourage the mother to breast feed the patient every 2 hours

 To promote adequate nutrition

 Encourage the mother to eat nutritious foods

 Food intake of the mother affects the nutrition received by the

patient.

Nursing diagnosis

1. Altered nutrition: less than body requirements

2. Constipation related to disease process

 3. High risk for altered parenting related to illness

4. High risk for impaired skin integrity due to extreme ages

5. High risk for infection due to surgical procedure

Prognosis

Symptoms improve or go away in most children after surgery. A small number of

children may have constipation or problems controlling stools (fecal incontinence).
Children who get treated early or who have a shorter segment of bowel involved
have a better outcome.

Predisposing Factors: Precipitating Factors:

Age, Gender, Genetics None

Enteric neurons are derived from the neural crest and migrate caudally
with the vagal nerve fibers along the intestine.

There is an arrest in the craniocaudal

migration of the neuroenteric ganglion
cells from the neural crest into the
upper gastrointestinal tract, down
through the vagal fibres, and along the
distal intestine. This occurs before the
12th week of gestation. There is a
genetic cause.
The parasympathetic ganglion cells in Auerbach’s plexus within the
intestinal tract muscle wall are absent or reduced in number, usually at
the distal end of the colon and the rectum. Affected site is the
rectosigmoid colon.

Parasympathetic innervation is depressed which results to uninterrupted

colonic, usually rectosigmoid, contraction.

Decreased PNS stimulation signifies inadequate expression of

synaptic neurotransmitters, acetylocholinesterase and nitric oxide.

Due to absence of ganglion cells in the myenteric plexus, there is a

decrease in synaptic activity of acetylcholinesterase and a
decrease of nitric oxide in the rectosigmoid segment.

Relaxation of the contracted segments is

inhibited.

Ineffective peristaltic movement

Rectosigmoid colon is narrow and no fecal material passes through it.

The intestine above the rectosigmoid colon has an accumulation of fecal material.

Proximal to the narrow

affected section, the
colon is dilated.

The internal rectal sphincter fails to relax, and evacuation of fecal

material and gas is prevented.
Abdominal distention and constipation result.