HIRSCHSPRUNG'S DISEASE

I. INTRODUCTION

Hirschusprung disease is the congenital absence of the ganglion cells both

in the muscle layers(Auerbach's plexus) and in the submucosa(Meissner's
plexus),with the presence of hypertrophic nerve trunks in the distal
bowel,beginning with aganglionic segment and including the internal sphincter.
The aganglionic segment extends proximally to varying distances.This anomaly
results in functional obstruction with dilatation and hypertrophy of the proximal
ganglionic segment.

II. DEFINITION

It is caused by congenital absence of ganglion cells in the muscular wall

of the distal part of the colon with resulting loss of peristaltic function in this part
and dilatation of the colon proximal to the aganglionic part ,called
also congenital megacolon
III. INCIDENCE
The incidence of hirsprung disease ranges from 1 in 4000 to 1 in 7000 live
births.Male to female ratio is 4:1 but,long segment aganglionis is more common in
female babies. Hirschsprung’s disease may affect more than one family member in
3-8% of cases. The risk of familial incidence increases if the aganglionic segment
is longer. Exact pattern of inheritance is not known but it is generally agreed it is
sex modified (x-linked) inheritance.

IV. ETIOLOGY

 It's not clear what causes Hirschsprung's disease. It sometimes occurs in

families and might, in some cases, be associated with a genetic mutation.

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 Hirschsprung's disease occurs when nerve cells in the colon don't form
completely. Nerves in the colon control the muscle contractions that move food
through the bowels. Without the contractions, stool stays in the large intestine.
V. RISK FACTORS

Factors that may increase the risk of Hirschsprung's disease include:

1. Having a sibling who has Hirschsprung's disease.

Hirschsprung's disease can be inherited. If you have one child who has the
condition, future biological children could be at risk.

2. Being male.
Hirschsprung's disease is more common in males.
3. Having other inherited conditions.
Hirschsprung's disease is associated with certain inherited conditions, such
as Down syndrome and other abnormalities present at birth, such as congenital
heart disease.
VI.PATHPHYSIOLOGY

Due to the absence of aganglionic cells

(because of failure of migration of neural crest cells)

Lack of peristalsis in the affected region

Functional obstruction of colon

Accumulation of the gas and feces proximal to defected part

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 Enlargement of colon occurs

Congenital megacolon/Hirschsprung disease

VII. CLINICAL FEATURES

Signs and symptoms of Hirschsprung's disease vary with the severity of the
condition. Usually signs and symptoms appear shortly after birth, but sometimes
they're not apparent until later in life.Typically, the most obvious sign is a
newborn's failure to have a bowel movement within 48 hours after birth.

 Abdominal distention. Infants with aganglionic megacolon

show tympanitic abdominal distention and symptoms of intestinal
obstruction.
 Chronic constipation. Older infants and children with Hirschsprung
disease usually present with chronic constipation.
 Palpable intestinal loops. Upon abdominal examination, these
children may demonstrate marked abdominal distention with palpable
dilated loops of colon.
 Absence/delayed passage of meconium. During the newborn period,
infants affected with Hirschsprung disease may present with failure of
passage of meconium.
 Vomiting. Repeated vomiting is present due to intestinal obstruction.
 Malnourishement. Poor nutrition results from the early satiety,
abdominal discomfort, and distention associated with chronic
constipation.

Other signs and symptoms in newborns may include:

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  Abdominal distension

 Bilious vomiting

 Constipation

 Reluctance of ingest fluids

 Fever,sepsis

In older children, signs and symptoms can include:

 Swollen belly

 Chronic constipation

 Failure to thrive

 Fatigue

 RIbbon like form of stool.

 Visible peristalsis,fecal masses easily palpable

 Poorly nourished

VIII. DIAGNOSTIC FINGDINGS

1. History collection
 Prenatal history
 family history ,Including sibling's history of disease.
2. Physical examination

General appearance

Patients may appear toxic if enterocoilitis occurred.

Vitals

 Hypotension
 Tachycardia

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 Abdomen

 Distension
 Empty rectum on digital rectum examination
 Rectal impaction

3. Plain X ray abdomen in erect posture

In the neonate
 X ray is done before rectal examination in enema.
 Largely dilated proximal colon may be seen
 Multiple fluid levels: Indicate intestinalobstruction.It could be because of
intestinal obstruction.
In older children
 Dilated proximal colon is seen in almost all the cases with fecal loading

4. Abdominal X-ray using a contrast dye.

Barium or another contrast dye is placed into the bowel through a special tube
inserted in the rectum. The barium fills and coats the lining of the bowel, creating
a clear silhouette of the colon and rectum.The X-ray will often show a clear
contrast between the narrow section of bowel without nerves and the normal but
often swollen section of bowel behind it.

5. Contrast enema
 It is done in unprepared colon
 Barium diluted withnormal saline is used
 Oblique views are taken to visualise whole length of colon
 24 hours post evacuation films must be taken

The findings are;

 Normal caliber distal colon with hugely dilated proximal colon.

 Presence of retained barium in 24 hours post evacuation film is very
strongly suggestive of hirschusprung disease.
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 6. Rectal biopsy

1.Suction biopsy

 Biopsy tube is introuced through anus and is positioned against the posterior
rectal wall above the internal sphincter.
 By generating negative pressure with the aid of large syringe,biopsy of
sufficient thickness can be taken.
 To determine extend biopsy can be taken at different levels,via 3,5, and 7 cms
from the anal verge.Biopsy specimen is placed on a small piece of filter paper
with saline and is quickly frozen.Acetyl cholinesterase staining is done.
Increase the in acetyl cholinesterase positive fibers in muscularis mucosa is
suggestive of hirschusprung disease.

2.Full Thickness Biopsy

Under generala anasthesia,full thickness biopsy is taken fromthe posterior

wall of the rectum ,2-3 cms above the anal verge, that is above the area of the
internal sphincter.One piece of biopsy material is kept in the saline and another in
the formaline and is sent immediately to the pathologist.

7. Anorectal manometry

A manometry test is typically done on older children and adults. The

doctor inflates a balloon inside the rectum. The surrounding muscle should relax
as a result. If it doesn't, Hirschsprung's disease could be the cause.In children with
hischsprung disease ,ther is no fall in pressure.Anorectal manometry is not useful
in neonatal period.

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 IX. MANAGEMENT
Surgical management

a) Pull-through Procedure

 Surgical management of Hirschsprung disease consists of removal of the

aganglionic bowel and reconstruction of the intestinal tract by reanastomosis of
the normally innervated bowel to the anus with preservation of normal
sphincter function.

 The pull-through procedures most commonly performed are the Swenson,

Duhamel, and Soave procedures. Historically, treatment included creating a
diverting colostomy given high rates of stricture and leak with the single stage
procedure.

 However, given recent improvements in surgical technique, anesthesia,

hemodynamic morning as well as earlier diagnosis, a primary pull-through
procedure is usually offered to patients who do not present late.
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 With the advent of laparoscopic surgery, minimally invasive techniques are
today the standard of care.

b) Sweson Procedure

Orvar Swenson, who just recently died in April 2012, described the first
surgical approach to Hirschsprung disease in 1940s. The pull-through procedure

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involves removal of the entire aganglionic colon, with an end-to-end anastomosis
of the normal colon to the low rectum. This operation is done through a
laparotomy with a deep a pelvic dissection and the anastomosis performed from a
perineal approach after eversion of the aganglionic rectum.

c) Soave Procedure

The Soave procedure was introduced in the 1960s as a way to avoid the
risks of injury to pelvic structures inherent in the Swenson procedure. The Soave
procedure consists of removing the mucosa and submucosa of the rectum and
placing the pull-through bowel within a “cuff” of aganglionic muscle. The original
description of the procedure left the pull-through colon hanging out through the
anus with a subsequent operation several weeks later creating the final
anastomosis. Boley later modified this procedure, performing a single stage
operation with primary anastomosis at the anus.

d) Duhamel procedure

First described in 1956, the Duhamel procedure entails bringing the normal
colon down retro-rectal, through the bloodless plane between the rectum and
sacrum. The aganglionic colon is resected to the rectum and the normal proximal
colon and rectum are brought together in an end-to-side anastomosis. By joining
the two walls in this manner, a new lumen is created which is aganglionic
anteriorly and normally innervated posteriorly. The advantage of this procedure is
the large anastomosis decreasing the risk for stricture, less pelvic dissection, and
the presence of a “reservoir” which is helpful for children with longer aganglionic
segments.

e) Laparoscopic pull-through

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 The first laparoscopic approach to pull-through surgery for Hirschsprung
disease was described in 1995 by Georgeson.A laparoscopic biopsy is performed
to identify the transition zone, followed by laparoscopic mobilization of the
rectum below the peritoneal reflection and endoscopic dissection of the colon and
rectum. A short mucosal dissection starting at the dentate line, similar to the Soave
procedure, is also performed and the rectum is then prolapsed through the anus
with the anastomosis done transanally.

This procedure has been associated with shorter hospital and similar early
outcomes to the open procedures.Additionally, laparoscopic approaches to the
Duhamel and Swenson operations have also been described with excellent short-
term results.

f) Transanal (perineal) pull-through

This pull-through approach is completely transanal without any intra-

abdominal dissection or laparoscopic mobilization. A circumferential mucosal
incision is made 0.5 to 1 cm above the dentate line (depending on the size of the
child), and a submucosal dissection is performed proximally. The rectal muscle is
incised circumferentially and the dissection continued on the outer rectal wall,
creating a rectal cuff with a division to prevent narrowing. The entire rectum and
part of the sigmoid colon are then delivered through the anus. The bowel is
divided above the transitional zone and anastomosed into the cuff from below. In
patients with a more proximal transitional zone, laparoscopy or a small umbilical
incision can be used to mobilize the left colon and/or splenic flexure to achieve
adequate length.

The transanal approach has a low complication rate, requires minimal

analgesia, and is associated with shorter hospital stays and early feeding.Outcomes
were reported to be as effective as open techniques with decreased postoperative

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incontinence and constipation, however, further randomized controlled trials are
necessary to verify the benefit. Additionally, opinions vary regarding the need for
a preliminary biopsy to identify the pathologic transition zone, prone versus supine
position, and the rectal cuff length.

g) Long-Segment Hirschsprung Disease

Long-segment Hirschsprung disease is defined as a transition zone that is

proximal to the midtransverse colon. Total colonic aganglionosis, usually
involving some distal ileum, is the most common. Rarely, the entire small bowel is
also aganglionic, or near-total aganglionosis with only 10-40 cm of normally
innervated jejunum. Patients with long-segment disease are more likely to have a
positive family history[48] and contrast enema usually shows a shortened, relatively
narrow colon (“question mark colon”).Sequential colonic biopsies are taken to
look for ganglion cells on frozen sections and identify the level of aganglionosis.
Most surgeons create a stoma and do a definitive reconstruction procedure later.

The reconstructive procedures for long-segment Hirschsprung disease

include: straight pull-through, colon patch, and J-pouch construction. Pull-through
procedures using any one of the standard techniques (Swenson, Duhamel, Soave)
bring the normally innervated ileum to just above the anal sphincter. A colon-
patch is a side-to-side anastomosis between normally innervated ileum and
aganglionic colon, thus using the small bowel for motility and colon as a reservoir
for storage of stool and absorption of water. A J-pouch procedure involves an
ileum to anal anastomosis with connected loops of folded ileum that form an
internal reservoir.[50]
The surgical options for children with near-total aganglionosis include bowel-
lengthening procedures such as the Binachi[51] or serial transverse enteroplasty
procedure[52] or intestinal transplant followed by pull-through surgery.

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Preoperative interventions
1. Assess bowel function
2. Administer bowel preparation as prescribed.
3. Maintain NPO status.
4. Monitor hydration and fluid and electrolyte status; provide fluids
intravenously as prescribed for hydration.
5. Administer antibiotics or colonic irrigations with an antibiotic solution as
prescribed to clear the bowel of bacteria.
6. Monitor strict intake and output.
7. Obtain daily weight.
8. Measure abdominal girth daily
9. Avoid taking the temperature rectally.
10. Monitor for respiratory distress associated with abdominal distention.

Postoperative interventions
1. Monitor vital signs, avoiding taking the temperature rectally.
2. Measure abdominal girth daily and PRN.
3. Assess the surgical site for redness, swelling, and drainage.
4. Assess the stoma if present for bleeding or skin breakdown (stoma should
be red and moist)
5. Assess the anal area for the presence of stool, redness, or discharge.
6. Maintain NPO status as prescribed and until bowel sounds return or flatus
is passed, usually within 48 to 72 hours.
7. Maintain nasogastric tube to allow intermittent suction until peristalsis
returns.
8. Maintain IV fluids until the child tolerates appropriate oral intake,
advancing the diet from clear liquids to regular as tolerate and as
prescribed.
9. Assess for dehydration and fluid overload.
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10. Monitor strict intake and output.
11. Obtain daily weight.
12. Assess for pain and provide comfort measure as prescribed.
13. Provide the parents with instructions regarding colostomy care and skin
care.
14. Teach the parents about the appropriate diet and the need for adequate fluid
intake.
X.NURSING MANAGEMENT
Nursing Assessment

 History. Carefully gather a history from the family caregivers, noting

especially the history of stooling; ask about the onset of constipation, the
character and odor of stools, the frequency of bowel movements, and the
presence of poor feeding habits, anorexia, and irritability.

 Physical examination. During the physical exam, observe for distended abdomen
and signs of poor nutrition; record weight and vital signs.

Goals:

The major nursing care planning goals for patients with

Hirschsprung Disease are:

 Maintaining skin integrity.

 Promoting comfort.
 Maintaining fluid balance.
 Maintaning moist, clean nasal and oral membranes.
 Reducing caregiver anxiety.

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 Nursing Interventions

. Nursing interventions for a child with aganglionic megacolon

include:

 Promote skin integrity. When performing routine colostomy care. give

careful attention to the area around the colostomy; record and report
redness, irritation, and rashy appearances of the skin around the stoma;
prepare the skin with skin-toughening preparations that strengthen it and
provide better adhesion of the appliance.
 Promote comfort. Observe for signs of pain, such as crying, pulse and
respiration rate increases, restlessness, guarding of the abdomen, or
drawing up the legs; administer analgesics as ordered; additional
nursing measures that can be used are changing the child’s position,
holding the c

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  /hild when possible, stroking, cuddling, and engaging in age-appropriate
activities.
 Maintain fluid balance. Accurate intake and output determinations and
reporting the character, amount, and consistency of stools help
determine when the child may have oral feedings; to monitor fluid loss,
record and report the drainage from the NG tube every 8 hours; and
immediately report any unusual drainage, such as bright-red bleeding.
 Provide oral and nasal care. Perform good mouth care at least every 4
hours; at the same time, gently clean the nares to relieve any irritation
from the NG tube.
 Provide family teaching. Show the family caregiver how to care for the
colostomy at home; discuss topics such as devices and their use, daily
irrigation, and skin care; the caregivers should demonstrate their
understanding by caring for the colostomy under the supervision of
nursing personnel several days before discharge.

Evaluation

Goals are met as evidenced by:

 The child’s skin integrity is maintained.

 The child’s behavior indicates minimal pain.
 The child’s fluid intake is adequate.
 The child’s oral and nasal mucous membranes remain intact.
 The family caregivers demonstrated skill and knowledge in caring for
the colostom

NURSING DIAGNOSIS

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1. Constipation related to obstruction in the colon as evidenced by abdominal
distension.
2. Imbalanced Nutrition, Less Than Body Requirements related to the digestive
tract, nausea and vomiting as evidenced by weakness.
3. Risk for Fluid Volume Deficit related to less intake of food
4. Knowledge Deficit related to the disease process and treatment as evidenced
by asking doubts.

SUMMARY

As far discussed about causes, pathophysiology ,clinical features

diagnostic findings,management and diagnosis of Hirschusprung disease.

BIBLIOGRAPHY

1. Achar's Text book of pediatrics,Fourth edition ,Universities publishers ,India.

2. Marlow R. Dorothy, Redding A. Barbara (2006) “TEXT BOOK OF
PAEDIATRIC NURSING” first edition published by Harcourt India (p) Ltd.,
New Delhi
3. Wong L. Donna, Caton Hockenberry Marilyn, (2002) “WONG’S
ESSENTIAL OF PAEDIATRIC NURSING” 6th edition, published by
Harcourt India (p) Ltd New Delhi
4. Ghai O.P& Gupta piyush, Paul V.K.(2005) “GHAI ESSENTIAL
PAEDICTRICS” 6th edition, published by CBS publishers & distributors New
Delhi
5. AssumaBeevi, (2009) ''TEXT BOOK OF PEDIATRIC NURSING'' Ist edition,
published by Elsevier publishers Noida UP

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