Hirschsprung Disease

(Aganglionic Megacolon)
• Hirschsprung disease is a congenital condition that
affects the large intestine, resulting in a lack of nerve
cells in certain segments of the bowel. This absence of
nerve cells leads to a functional obstruction, causing
difficulties in passing stool and potential complications
like constipation and abdominal distension
• Hirschsprung disease is typically diagnosed in
infancy or early childhood, and prompt
recognition and intervention are vital to prevent
severe complications.
 What is Hirschsprung Disease?

• In some cases, aganglionic megacolon or Hirschsprung

disease may be severe enough to be recognized.
• Hirschsprung’s disease: Enlargement of the colon,
caused by bowel obstruction resulting from an
aganglionic section of bowel (the normal enteric nerves
are absent).
 Congenital aganglionic megacolon
• Also called Hirschsprung disease, is characterized by
persistent constipation resulting from partial or complete
intestinal obstruction of mechanical origin.
• In 1886, Harold Hirschsprung first described Hirschsprung’s
disease as a cause of constipation in early infancy.
• Early recognition and surgical correction of Hirschsprung
disease protect affected infants from enterocolitis and
debilitating constipation.
 Pathophysiology

• The pathophysiology of aganglionic megacolon is as

follows:
• Hirschsprung disease results from the absence of
enteric neurons within the myenteric and submucosal
plexus of the rectum and/or colon.
 Pathophysiology
• Enteric neurons are derived from the neural crest and migrate
caudally with the vagal nerve fibers along the intestine.
• These ganglion cells arrive in the proximal colon by 8 weeks
gestation and in the rectum by 12 weeks gestation.
• Arrest in migration leads to an aganglionic segment.
• This results in clinical Hirschsprung disease.
 Statistics and Incidences

• Cases of aganglionic megacolon are seen in

approximately 1 per 5000 live births.
• Prevalence may vary by region and has been shown to
be as high as 1 per 3000 live births.
 Statistics and Incidences

• The overall mortality of Hirschsprung enterocolitis is

25-30%, which accounts for almost all of the mortality
from Hirschsprung disease.
• Hirschsprung disease is approximately 4 times more
common in males than females.
 Statistics and Incidences

• Nearly all children with Hirschsprung disease are

diagnosed during the first 2 years of life.
• Approximately one-half of children affected with this
disease are diagnosed before they are aged 1 year; a small
number of children with Hirschsprung disease are not
recognized until much later in childhood or adulthood.
 Causes

• The causes of aganglionic megacolon are:

• Genetic causes
• Associated conditions
 Causes
• Genetic causes. The disease is generally sporadic, although the incidence
of familial disease has been increasing; multiple loci appear to be
involved, including chromosomes 13q22, 21q22, and 10q; mutations in
the Ret proto-oncogene have been associated with multiple endocrine
neoplasias (MEN) 2A or MEN 2B and familial Hirschsprung disease;
other genes associated with Hirschsprung disease include the glial cell-
derived neurotrophic factor gene, the endothelin-B receptor gene, and the
endothelin-3 gene.
 Causes

• Associated conditions. Hirschsprung disease is

strongly associated with Down syndrome; 5-15% of
patients with Hirschsprung disease also have trisomy
21; other associations include Waardenburg syndrome,
congenital deafness, malrotation, gastric diverticulum,
and intestinal atresia.
 Clinical Manifestations
• Examination of infants affected with Hirschsprung disease reveals:
• Abdominal distention
• Chronic constipation
• Palpable intestinal loops
• Absence/delayed passage of meconium
• Vomiting
• Malnourishment
 Clinical Manifestations

• 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.
 Clinical Manifestations
• Palpable intestinal loops. Upon abdominal examination, these
children may demonstrate marked abdominal distention with
palpable dilated loops of the colon.
• Absence/delayed passage of meconium. During
the newborn period, infants affected with Hirschsprung disease
may present with failure of passage of meconium.
 Clinical Manifestations

• Vomiting. Repeated vomiting is present due to

intestinal obstruction.
• Malnourishment. Poor nutrition results from the early
satiety, abdominal discomfort, and distention associated
with chronic constipation.
 Assessment and Diagnostic Findings
• The diagnosis of aganglionic megacolon is made through the following
data:
• Laboratory studies
• Plain abdominal radiography
• Unprepared single-contrast barium enema
• Rectal biopsy
• Rectal manometry
 Assessment and Diagnostic Findings

• Laboratory studies. CBC count, order this test if

enterocolitis is suspected; elevation of WBC count or a
bandemia should raise concern for enterocolitis.
• Plain abdominal radiography. Perform this test with any
signs or symptoms of abdominal obstruction.
 Assessment and Diagnostic Findings
• Unprepared single-contrast barium enema. If perforation
and enterocolitis are not suspected, an unprepared single-
contrast barium enema may help establish the diagnosis by
identifying a transition zone between a narrowed aganglionic
segment and a dilated and normally innervated segment; the
study may also reveal a non distensible rectum, which is a
classic sign of Hirschsprung disease.
 Assessment and Diagnostic Findings

• Rectal biopsy. Diagnosis is confirmed through rectal

biopsy.
• Rectal manometry. In older children who present with
chronic constipation and an atypical history for either
Hirschsprung disease or functional constipation, anorectal
manometry can be helpful in making or excluding the
diagnosis.
 Medical Management
• Treatment involves:
• Initial therapy
• Decompression
• Diet
 Medical Management

• Initial therapy. If a child with Hirschsprung disease has

symptoms and signs of a high-grade intestinal obstruction,
initial therapy should include intravenous hydration,
withholding of enteral intake, and intestinal and gastric
decompression.
 Medical Management
• Decompression. Decompression can be accomplished through
the placement of a nasogastric tube and either digital rectal
examination or normal saline rectal irrigations 3-4 times daily.
• Diet. A special diet is not required; however, preoperatively and
in the early postoperative period, infants on a nonconstipated
regimen, such as breast milk, are more easily managed.
 Pharmacologic Management
• Drug therapy currently is not a component of the standard of care for this
disease itself; however, some medications may be used to treat
complications of Hirschsprung disease.
• Antibiotics. Administer broad-spectrum antibiotics to patients with
enterocolitis.
 Surgical Management

• The surgical options vary according to the patient’s

age, mental status, ability to perform activities of daily
living, length of the aganglionic segment, degree of
colonic dilation, and presence of enterocolitis.
• Leveling colostomy
• Single-stage pull-through procedure
 Surgical Management

• Leveling colostomy. Surgical options include leveling

colostomy, which is a colostomy at the level of normal
bowel; a staged procedure with placement of a leveled
colostomy followed by a pull-through procedure.
 Surgical Management

• Single-stage pull-through procedure. The single-stage

pull-through procedure may be performed with
laparoscopic, open, or transanal techniques; this procedure
can be performed at the time of diagnosis or after the
newborn has had rectal irrigations at home and has passed
the physiologic nadir
 Nursing Management
• Nursing care management for a child with aganglionic megacolon
includes:
• Nursing Assessment
• Nursing Diagnosis
• Nursing Care Planning and Goals
• Nursing Interventions
• Assessment and Diagnostic Findings
• Evaluation
 Nursing Management

• Nursing Assessment
• Assessment involves:
• History
• Physical examination
 Nursing Management
• Nursing Assessment
• History. Carefully gather 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.
 Nursing Management
• Nursing Assessment
• Physical examination. During the physical exam,
observe for distended abdomen and signs of poor
nutrition; record weight and vital signs.
 Nursing Management
• Nursing Diagnosis
• Based on the assessment data, the major nursing diagnoses for
Hirschsprung disease are:
• Constipation
• Imbalanced nutrition: less than body requirements
• Fear
 Nursing Management
• Risk for impaired skin integrity
• Acute pain
• Deficient fluid volume
• Impaired oral and nasal mucous membranes
• Deficient knowledge of caregivers
 Nursing Management
• Constipation related to decreased bowel motility.
• Imbalanced nutrition: less than body requirements related
to anorexia.
• Fear (in the older child) related to impending surgery.
• Risk for impaired skin integrity related to irritation from the
colostomy.
 Nursing Management
• Acute pain related to the surgical procedure.
• Deficient fluid volume related to postoperative condition.
• Impaired oral and nasal mucous membranes related to NPO
status and irritation from NG tube.
• Deficient knowledge of caregivers related to understanding of
postoperative care of the colostomy.
 Nursing Management
• Nursing Care Planning and 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.
 Nursing Management
• Nursing Interventions
• Nursing interventions for a child with aganglionic megacolon include:
• Promote skin integrity
• Promote comfort
• Maintain fluid balance
• Provide oral and nasal care
• Provide family teaching.
 Nursing Management
• 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.
 Nursing Management
• 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 child when possible,
stroking, cuddling, and engaging in age-appropriate activities.
 Nursing Management
• 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.
 Nursing Management

• 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.
 Nursing Management
• 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.
 Nursing Management

• Evaluation
• Goals are met as evidenced by:
• The child’s skin integrity is maintained.
• The child’s behavior indicates minimal pain.
 Nursing Management

• 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 colostomy.
THANK YOU