VIII.

PATHOPHYSIOLOGY
A. Anatomy and Physiology
Rectum and Anus
The anal canal is approximately 4 cm long and extends from the anal verge to the top of the
external anal sphincter complex or ring. This is a clinical and surgical description that
corresponds to the digital exam and findings seen on ultrasound but not to the histological
changes along the canal. It differs from a purely anatomical description of the anal canal
as extending from the anal verge to the dentate line or a histological one which describes the
anal canal as ending at approximately 10 mm above the anal valves where it is lined by rectal
type mucosa. The dentate line lies at or just distal to the anal valves. It is a mucosal boundary
and not the proximal boundary of the transitional zone. The anal transitional zone, as defined
by Fenger, is the "zone interposed between uninterrupted colorectal type mucosa above
and uninterrupted squamous epithelium below."
Rectal and anal sensory innervation
Anal canal sensation to touch, pin-prick, heat, and cold are present from the anal verge to 2.5
- 15 mm above the anal valves. This sensitive area is thought to help discriminate between
flatus and stool but local anesthesia does not obliterate that ability. The rectum is only
sensitive to distention. Rectal sensation may be due to receptors in the rectal wall but also
in the pelvic fascia or surrounding muscle. The sensory pathway for rectal distention is the
parasympathetic system via the pelvic plexus to S2, S3 and S4. Below 15 cm rectal distention
is perceived as flatus but above 15 cm air distention causes a sensation of
abdominal discomfort. Anal canal sensation is via the inferior rectal branch of the pudendal
nerve that arises from S2, S3 and S4. This is the first branch of the pudendal nerve and along
with the second branch, the perineal nerve, arises from the pudendal nerve in the pudendal
canal (Alcocks canal). The remainder of the pudendal nerve continues as the dorsal nerve of
the penis or clitoris.
Ganglion cells
The intestine pushes the stool down the bowel to the anus by wave movements, properly
called peristaltic movements, of contracting and then relaxing. The ganglion cells job is to
allow the bowel to relax. Without being able to relax, the bowel remains constricted and
narrow. No stool can pass this point in the bowel and accumulates back up the bowel. The
bowel then swells giving the appearance of the tummy looking bloated. When a contrast or
barium x-ray is taken, the bowel looks like a Y or ice cream cone, narrow at the bottom
getting wider at the top where the stool is accumulating.
Colon
The colon removes water, salt, and some nutrients forming stool. Muscles line the colon's
walls, squeezing its contents along. Billions of bacteria coat the colon and its contents, living
in a healthy balance with the body

B. Overview of the disease

Hirschsprungs disease, or aganglionic megacolon, is absence of ganglionic innervations
to the muscle of a section of the bowel in most instances, the lower portion of the
sigmoid colon just above the anus (Dasgupta & Langer, 2008). The absence of nerve cells
means there are no peristaltic waves in this section to move fecal material through the
segment of intestine. This results in chronic constipation or ribbonlike stools (stools
passing through such a small, narrow segment look like ribbons). The portion of the
bowel proximal to the obstruction dilates, distending the abdomen.
The incidence of aganglionic disease is higher in the siblings of a child with the disorder
than in other children. It also occurs more often in males than in females. It is caused by
an abnormal gene on chromosome 10. The incidence is approximately 1 in 5000 live
births (Sondheimer, 2008).

Reference: Pillitteri, A. Maternal and Child Health Nursing 6th edition, page 1347

C. Schematic Diagram
Hirschsprungs Disease

Risk Factors
Sex: Male
Neonate
Abnormalities in genes of chromosome
10
impaction

Enlarged colon

Chronic constipation

Abdominal distention

(-) ganglion cells

No peristalsis
Intestinal
Obstruction

Stool/ meconium
unable to pass
Impaired gas
exchange

Abdominal pain

DEATH

shock

Diagnostic exams
a. Plain abdominal x-ray
confirms intestinal obstruction
b. Barium enema x-ray
the doctor puts barium through the anus into the intestine before taking the picture. Barium is
a liquid that makes the intestine show up better in the x-ray
c. Anorectal Manometry
the doctor inflates a small balloon inside the rectum. Normally, the anal muscle will relax. If it
doesnt, HD may be is the problem
d. Rectal Biopsy
the doctor removes and looks at a tiny piece of the intestine under a microscope. If the nerve
cells are missing, HD is the problem.

Management

*Help the parents adjust to the congenital disorder*

Foster infant-parent bonding
Prepare the parents for the medical-surgical interventions
Pull-through surgery - is the removal of the aganglionic portion of the intestine and
connecting the healthy part to the anus
Ostomy - The doctor takes out the diseased part of the intestine and cuts out a small hole
in the babys abdomen.* Then the doctor connects the top part of the intestine to
thestoma.* Stool goes into a bag attached to the skin around the stoma.*
Teach the caregivers on how to care for the stoma, how tochange the bag that collects the
stool and talk about their worries.
Measure the intake and output, including the NG tube losses and stool from the ostomy
Monitor IV fluids to maintain adequate hydration and electrolyte balance
Monitor the return of the bowel sounds and passage of stool*
Advice patient to drink plenty of water and inform the caregivers the importance of
liquids especially after surgery