Intraoperative finding in total colonic aganglionosis.

Note the decompressed bowel adjacent

to the distended colon.
Sumber : http://emedicine.medscape.com/article/929733-overview , 2014,
Pediatric Hirschsprung Disease

Author: Holly L Neville, MD; Chief Editor: Carmen Cuffari, MD more

Pendahuluan
In 1886, Harold Hirschsprung first described Hirschsprung disease as a cause of constipation
in early infancy. Early recognition and surgical correction of Hirschsprung disease protects
affected infants from enterocolitis and debilitating constipation.

Hirschsprung's (HIRSH-sproongz) disease is a condition that affects the

large intestine (colon) and causes problems with passing stool.
Hirschsprung's disease is present when a baby is born (congenital) and
results from missing nerve cells in the muscles of part or all of the baby's
colon.

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.
Hirschsprung's disease is treated with surgery to bypass or remove the
diseased part of the colon.

Patofisiologi
Hirschsprung disease results from the absence of enteric neurons within the myenteric and
submucosal plexus of the rectum and/or colon. 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.

Frequency
United States
Hirschsprung disease occurs in approximately 1 per 5000 live births.
International
Prevalence may vary by region and has been shown to be as high as 1 per 3000 live births in the
Federated States of Micronesia.[1]

Mortality/Morbidity
The overall mortality of Hirschsprung enterocolitis is 25-30%, which accounts for almost all of the
mortality from Hirschsprung disease.

Sex
Hirschsprung disease is approximately 4 times more common in males than females.

Age
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.

History

During the newborn period, infants affected with Hirschsprung disease may present with
abdominal distention, failure of passage of meconium within the first 48 hours of life, and
repeated vomiting. A family history of a similar condition is present in about 30% of cases.
Nearly one half of all infants with Hirschsprung disease have a history of delayed first
passage of meconium (beyond age 36 h), and nearly one half of infants with delayed first
passage of meconium have Hirschsprung disease.
Unlike children experiencing functional constipation, children with Hirschsprung disease
rarely experience soiling and overflow incontinence.
Children with Hirschsprung disease may be malnourished. Poor nutrition results from the
early satiety, abdominal discomfort, and distention associated withchronic constipation.
Older infants and children typically present with chronic constipation. This constipation
often is refractory to usual treatment protocols and may require daily enema therapy.
Hirschsprung enterocolitis can be a fatal complication of Hirschsprung disease.
Enterocolitis typically presents with abdominal pain, fever, foul-smelling and/or bloody diarrhea,
as well as vomiting. If not recognized early, enterocolitis may progress to sepsis, transmural
intestinal necrosis, and perforation.

Physical

Examination of infants affected with Hirschsprung disease reveals tympanitic abdominal

distention and symptoms of intestinal obstruction. Individuals in this age group may also present
with acute enterocolitis or with neonatal meconium plug syndrome.

Children with Hirschsprung disease are usually diagnosed by age 2 years.

Older infants and children with Hirschsprung disease usually present with chronic
constipation. Upon abdominal examination, these children may demonstrate marked abdominal
distention with palpable dilated loops of colon. Rectal examination commonly reveals an empty
rectal vault and may result in the forceful expulsion of fecal material upon completion of
examination.

Less commonly, older children with Hirschsprung disease may be chronically

malnourished and/or present with Hirschsprung enterocolitis.

Causes

Genetic causes
The disease is generally sporadic, although 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 neoplasia (MEN) 2A or MEN 2B and familial Hirschsprung disease.[2, 3]
Other genes associated with Hirschsprung disease include the glial cell-derived
neurotrophic factor gene, the endothelin-B receptor gene, and the endothelin-3 gene.
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.
DD

Konstipasi

Laboratory Studies
CBC count: Order this test if enterocolitis is suspected. Elevation of WBC count or a bandemia
should raise concern for enterocolitis.

Imaging Studies

Plain abdominal radiography: Perform this test with any signs or symptoms of abdominal
obstruction.

Abdominal radiograph demonstrating small bowel obstruction and megacolon in infant with Hirschsprung
Disease.

Barium enema demonstrating transition zone. The transition zone shows the transition from dilated, normally
innervated bowel to normal caliber, noninnervated bowel.

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 nondistensible rectum, which is a classic sign
of Hirschsprung disease. A transition zone may not be apparent in neonates, because of
insufficient time to develop colonic dilation, or in infants who have undergone rectal washouts,
examinations, or enemas.

Other Tests
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.[4] Children with Hirschsprung disease fail to demonstrate reflex
relaxation of the internal anal sphincter in response to inflation of a rectal balloon.

Procedures
The definitive diagnosis of Hirschsprung disease rests on histological review of rectal tissue.
Obtain tissue either by suction rectal biopsy or transanal wedge resection. If a suction biopsy is
performed, take the biopsy 2-2.5 cm above the dentate line on the posterior wall to minimize the
risk of perforation. Carefully examine biopsy specimens for the presence or absence of ganglion
cells in the submucous plexus (suction rectal biopsy) or myenteric plexuses (transanal wedge
resection).
In the hands of an experienced pathologist, the resulting biopsy and absence of ganglion cells
confirm the diagnosis and allow the initiation of treatment. Skip lesions of aganglionosis have
been reported in cases of Hirschsprung disease. [5]
Acetylcholinesterase staining of the tissue can be performed to assist with the pathologic
assessment. Acetylcholinesterase staining identifies the hypertrophy of extrinsic nerves trunks. In
short-segment Hirschsprung disease, the diagnosis can be made with a properly placed rectal
suction biopsy alone or in combination with anorectal manometry.

Histologic Findings
Histologic findings include the absence of ganglion cells in the myenteric plexus and hypertrophic
extrinsic nerve fibers.
Acetylcholinesterase staining and calretinin immunostaining may be helpful in making the
diagnosis. Calretinin is helpful in ruling out Hirschsprung disease by staining the ganglion cells
and intrinsic nerve tissue. Acetylcholinesterase, on the other hand, is helpful in confirming the
diagnosis by demonstrating increased activity in the hypertrophied nerve trunks. [6]

Medical Care

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.
Decompression can be accomplished through placement of a nasogastric tube and either
digital rectal examination or normal saline rectal irrigations 3-4 times daily.
Administer broad-spectrum antibiotics to patients with enterocolitis.
Immediately request surgical consultation for biopsy confirmation and treatment plan.
While awaiting surgical intervention in the event of a planned single-stage pull-through
procedure, the baby should receive scheduled vaccinations.

Surgical Care
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.

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; or
a 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. Colostomy followed by pull-through procedure is generally reserved for those
patients who present with sepsis due to enterocolitis, massive distention of ganglionic bowel
prohibiting pull-through procedure, or are otherwise not medically suitable for the pull-through
procedure.
The ability to perform a single-stage pull-through procedure largely depends on the availability,
experience, and capabilities of the staff pathologist because aganglionic intestine must not be in
the pull-through segment.
Recurrent postoperative enterocolitis may require treatment. Current therapeutic options include
rectal dilations, application of topical nitric oxide, posterior myotomy/myectomy,[7] , injection of
botulinum toxin, or repeat operation in the event of refractory obstructive symptoms or repeated
enterocolitis.[8, 9]

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.

Activity
Postoperatively, patients may return to their normal physical activities

Medication Summary
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. See Treatment.
Medications may include antibiotics for the treatment of enterocolitis or the use of botulinum toxin
injection at the anal sphincter for the treatment of recurrent enterocolitis due to anal hypertonicity.

Further Outpatient Care

Prior to surgical intervention in patients with Hirschsprung disease, perform close followup care to be sure the colon is adequately decompressed and that signs or symptoms of

enterocolitis do not develop. Teach the family techniques of decompression and rectal irrigation
because these therapies aid in decreasing colonic dilation in preparation for surgery.
Preoperatively, counsel the family as to the available surgical options. If the child is to
undergo a staged procedure or have a permanent ostomy, provide preliminary instruction about
ostomy care to the family.
Postoperatively, patients need close follow-up care to assess healing as well as a screen
for potential complications (eg, stricture formation). Outpatient dilations may be necessary to
alleviate strictures and should be expected in patients who undergo a single-stage pull-through
procedure in the newborn period.

Complications
Postoperative complications may include intermittent fecal soiling and incontinence, anastomotic
leak, stricture formation, intestinal obstruction, and enterocolitis.

Prognosis
The outcome in infants and children with Hirschsprung disease is generally quite good. Most
children obtain fecal continence and control. However, children with other significant
comorbidities, such as major genetic abnormalities, may have lower rates of continence.

Patient Education
Alert patients and their families to potential preoperative and postoperative complications of
Hirschsprung disease. When applicable, teach patients and their families how to care for an
ostomy.

References
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Definition
By Mayo Clinic Staff

Multimedia

Colon and rectum

Multimedia

Hirschsprung's disease

Symptoms
By Mayo Clinic Staff

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 of Hirschsprung's disease is a newborn's
failure to have a bowel movement within 48 hours after birth.
Other signs and symptoms in newborns may include:

Swollen belly

Vomiting, including vomiting a green or brown substance

Constipation or gas, which might make a newborn fussy

Diarrhea

In older children, signs and symptoms can include:

Swollen belly

Chronic constipation

Gas

Failure to gain weight

Fatigue

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.

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