Congenital Aganglionic Megacolon

(Hirschsprung Disease)
Kristin N. Fiorino and Chris A. Liacouras
Hirschsprung disease, or congenital aganglionic megacolon, is a developmental
disorder (neurocristopathy) of the enteric nervous system,
characterized by the absence of ganglion cells in the submucosal and
myenteric plexus. It is the most common cause of lower intestinal
obstruction in neonates, with an overall incidence of 1 in 5,000 live
births. The male : female ratio for Hirschsprung disease is 4 : 1 for shortsegment
disease, and approximately 2 : 1 with total colonic aganglionosis.
Prematurity is uncommon.
There is an increased familial incidence in long-segment disease.
Hirschsprung disease may be associated with other congenital defects,
including trisomy 21, Joubert syndrome, Goldberg-Shprintzen syndrome,
Smith-Lemli-Opitz syndrome, Shah-Waardenburg syndrome,
cartilage-hair hypoplasia, multiple endocrine neoplasm 2 syndrome,
neurofibromatosis, neuroblastoma, congenital hypoventilation
(Ondine’s curse), and urogenital or cardiovascular abnormalities.
Hirschsprung disease has been seen in association with microcephaly,
mental retardation, abnormal facies, autism, cleft palate, hydrocephalus,
and micrognathia.
PATHOLOGY
Hirschsprung disease is the result of an absence of ganglion cells in the
bowel wall, extending proximally and continuously from the anus for
a variable distance. The absence of neural innervation is a consequence
of an arrest of neuroblast migration from the proximal to distal bowel.
Without the myenteric and submucosal plexus, there is inadequate
relaxation of the bowel wall and bowel wall hypertonicity, which can
lead to intestinal obstruction.

Hirschsprung disease is usually sporadic, although dominant and

recessive patterns of inheritance have been demonstrated in family
groups. Genetic defects have been identified in multiple genes that
encode proteins of the RET signaling pathway (RET, GDNF, and NTN)
and involved in the endothelin (EDN) type B receptor pathway
(EDNRB, EDN3, and EVE-1). Syndromic forms of Hirschsprung
disease have been associated with the L1CAM, SOX10, and ZFHX1B
(formerly SIP1) genes.
The aganglionic segment is limited to the rectosigmoid in 80%
of patients. Approximately 10-15% of patients have long-segment
disease, defined as disease proximal to the sigmoid colon. Total bowel
aganglionosis is rare and accounts for approximately 5% of cases.
Observed histologically is an absence of Meissner’s and Auerbach’s
plexuses and hypertrophied nerve bundles with high concentrations
of acetylcholinesterase between the muscular layers and in the
submucosa.
CLINICAL MANIFESTATIONS
Hirschsprung disease is usually diagnosed in the neonatal period secondary
to a distended abdomen, failure to pass meconium, and/or
bilious emesis or aspirates with feeding intolerance. In 99% of
healthy full-term infants, meconium is passed within 48 hr of birth.
Hirschsprung disease should be suspected in any full-term infant (the
disease is unusual in preterm infants) with delayed passage of stool.
Some neonates pass meconium normally but subsequently present
with a history of chronic constipation. Failure to thrive with hypoproteinemia
from protein-losing enteropathy is a less common presentation
because Hirschsprung disease is usually recognized early in the
course of the illness. Breastfed infants might not suffer disease as severe
as formula-fed infants.
Failure to pass stool leads to dilation of the proximal bowel and
abdominal distention. As the bowel dilates, intraluminal pressure

increases, resulting in decreased blood flow and deterioration of the

mucosal barrier. Stasis allows proliferation of bacteria, which can lead
to enterocolitis (Clostridium difficile, Staphylococcus aureus, anaerobes,
coliforms) with associated diarrhea, abdominal tenderness, sepsis and
signs of bowel obstruction. Early recognition of Hirschsprung disease
before the onset of enterocolitis is essential in reducing morbidity and
mortality.
Hirschsprung disease in older patients must be distinguished from
other causes of abdominal distention and chronic constipation (Table
332-5 and Fig. 332-2). The history often reveals constipation starting
in infancy that has responded poorly to medical management. Fecal
incontinence, fecal urgency, and stool-withholding behaviors are
usually not present. The abdomen is tympanitic and distended, with a
large fecal mass palpable in the left lower abdomen. Rectal examination
demonstrates a normally placed anus that easily allows entry of the
finger but feels snug. The rectum is usually empty of feces, and when
the finger is removed, there may be an explosive discharge of foulsmelling
feces and gas. The stools, when passed, can consist of small
pellets, be ribbon-like, or have a fluid consistency, unlike the large
stools seen in patients with functional constipation. Intermittent
attacks of intestinal obstruction from retained feces may be associated
with pain and fever. Urinary retention with enlarged balder or hydronephrosis
can occur secondary to urinary compression.
In neonates, Hirschsprung disease must be differentiated from
meconium plug syndrome, meconium ileus, and intestinal atresia. In
older patients, the Currarino triad must be considered, which includes
anorectal malformations (ectopic anus, anal stenosis, imperforate
anus), sacral bone anomalies (hypoplasia, poor segmentation), and
presacral anomaly (anterior meningoceles, teratoma, cyst).
DIAGNOSIS
Rectal suction biopsy is the gold standard for diagnosing Hirschsprung
disease. The biopsy material should contain an adequate amount of
submucosa to evaluate for the presence of ganglion cells. To avoid
obtaining biopsies in the normal area of hypoganglionosis, which
ranges from 3-17 mm in length, the suction rectal biopsy should be
obtained no closer than 2 cm above the dentate line. The biopsy specimen
should be stained for acetylcholinesterase to facilitate interpretation.
Patients with aganglionosis demonstrate a large number of
hypertrophied nerve bundles that stain positively for acetylcholinesterase
with an absence of ganglion cells. Calretinin staining may
provide a diagnosis of Hirschsprung disease when acetylcholinesterase
staining may not be sufficient.
Anorectal manometry evaluates the internal anal sphincter while a
balloon is distended in the rectum. In healthy individuals, rectal
distention initiates relaxation of the internal anal sphincter in response
to rectal distention. In patients with Hirschsprung disease, the internal
anal sphincter fails to relax in response to rectal distention. Although
the sensitivity and specificity can vary widely, in experienced hands,
the test can be quite sensitive. The test, however, can be technically
difficult to perform in young infants. A normal response in the course
of manometric evaluation precludes a diagnosis of Hirschsprung
disease; an equivocal or paradoxical response requires a repeat motility
or rectal biopsy.

An unprepared contrast enema is most likely to aid in the diagnosis

in children older than 1 mo of age because the proximal ganglionic
segment might not be significantly dilated in the 1st few wk of life.
Classic findings are based on the presence of an abrupt narrow transition
zone between the normal dilated proximal colon and a smallercaliber
obstructed distal aganglionic segment. In the absence of this
finding, it is imperative to compare the diameter of the rectum to that
of the sigmoid colon, because a rectal diameter that is the same as or
smaller than the sigmoid colon suggests Hirschsprung disease. Radiologic
evaluation should be performed without preparation to prevent
transient dilation of the aganglionic segment. As many as 10% of newborns
with Hirschsprung disease have a normal contrast study. Twentyfour-
hour delayed films are helpful in showing retained contrast (see
Fig. 332-2). If significant barium is still present in the colon, it increases
the suspicion of Hirschsprung disease even if a transition zone is not
identified. Barium enema examination is useful in determining the
extent of aganglionosis before surgery and in evaluating other diseases
that manifest as lower bowel obstruction in a neonate. Full-thickness
rectal biopsies can be performed at the time of surgery to confirm the
diagnosis and level of involvement.
TREATMENT
Once the diagnosis is established, the definitive treatment is operative
intervention. Previously, a temporary ostomy was placed and definitive
surgery was delayed until the child was older. Currently, many infants
undergo a primary pull-through procedure except if there is associated
enterocolitis or other complications, when a decompressing ostomy is
usually required.
There are 3 basic surgical options. The first successful surgical procedure,
described by Swenson, was to excise the aganglionic segment
and anastomose the normal proximal bowel to the rectum 1-2 cm
above the dentate line. The operation is technically difficult and led to
the development of 2 other procedures. Duhamel described a procedure
to create a neorectum, bringing down normally innervated bowel
behind the aganglionic rectum. The neorectum created in this procedure
has an anterior aganglionic segment with normal sensation and
a posterior ganglionic segment with normal propulsion. The endorectal
pull-through procedure described by Soave involves stripping the
mucosa from the aganglionic rectum and bringing normally innervated
colon through the residual muscular cuff, thus bypassing the
abnormal bowel from within. Advances in techniques have led to successful
laparoscopic single-stage endorectal pull-through procedures,
which are the treatment of choice.
In ultrashort-segment Hirschsprung disease, also known as anal
achalasia, the aganglionic segment is limited to the internal sphincter.
The clinical symptoms are similar to those of children with functional
constipation. Ganglion cells are present on rectal suction biopsy, but
the anorectal manometry is abnormal, with failure of relaxation of the
internal anal sphincter in response to rectal distention. Current treatment,
although controversial, includes anal botulism injection to relax
the anal sphincter and anorectal myectomy if indicated.
Long-segment Hirschsprung disease involving the entire colon and,
at times, part of the small bowel presents a difficult problem. Anorectal
manometry and rectal suction biopsy demonstrate findings of
Hirschsprung disease, but radiologic studies are difficult to interpret
because a colonic transition zone cannot be identified. The extent of
aganglionosis can be determined accurately by biopsy at the time of
laparotomy. When the entire colon is aganglionic, often together with
a length of terminal ileum, ileal-anal anastomosis is the treatment of
choice, preserving part of the aganglionic colon to facilitate water
absorption, which helps the stools to become firm.
The prognosis of surgically treated Hirschsprung disease is generally
satisfactory; the great majority of patients achieve fecal continence.
Long-term postoperative problems include constipation,
recurrent enterocolitis, stricture, prolapse, perianal abscesses, and
fecal soiling. Some children require myectomy or a redo pull-through
procedure.

Nelson
HIRSCHSPRUNG DISEASE (CONGENITAL
AGANGLIONIC MEGACOLON)
Hirschsprung disease (HD) is a congenital anomaly that
results in mechanical obstruction from inadequate motility of
part of the intestine. It accounts for about one fourth of all
cases of neonatal intestinal obstruction. The incidence is 1 in
5000 live births (Fiorino and Liacouras, 2011). It is four times
more common in males than in females and follows a familial
pattern in a small number of cases. Mutations in the RET protooncogene
have been found in 17% to 38% of children with
short-segment HD and in 70% to 80% of those with longsegment
involvement (Dasgupta and Langer, 2004). In more
than 80% of cases the aganglionosis is restricted to the internal
sphincter, rectum, and a few centimeters of the sigmoid
colon and is termed short-segment disease (Theocharatos and
Kenny, 2008).
Pathophysiology
The pathology of HD relates to the absence of ganglion cells in
the affected areas of the intestine, resulting in a loss of the rectosphincteric
reflex and an abnormal microenvironment of the
cells of the affected intestine (Theocharatos and Kenny, 2008).
The term congenital aganglionic megacolon describes the primary
defect, which is the absence of ganglion cells in the myenteric
plexus of Auerbach and the submucosal plexus of Meissner
(Fig. 26-2).
The absence of ganglion cells in the affected bowel results in
a lack of enteric nervous system stimulation, which decreases
the internal sphincter’s ability to relax. Unopposed sympathetic
stimulation of the intestine results in increased intestinal tone.
In addition to the contraction of the abnormal bowel and the
resulting lack of peristalsis, there is a loss of the rectosphincteric
reflex. Normally, when a stool bolus enters the rectum, the
internal sphincter relaxes and the stool is evacuated. In HD, the
internal sphincter does not relax. In most cases the aganglionic
segment includes the rectum and some portion of the distal
colon. However, the entire colon or part of the small intestine
may be involved; this is considered long-segment HD. Occasionally,
skip segments or total intestinal aganglionosis may occur.
Rarely, total colonic aganglionosis, in which there is no innervation
of the large and small intestine from the anus to the ileocecal valve,
will occur in 2% to 13% of cases with HD
(Moore, 2012)

BOX 26-10 CLINICAL MANIFESTATIONS

OF HIRSCHSPRUNG DISEASE

Newborn Period
Failure to pass meconium within 24 to 48 hours after birth
Refusal to feed
Bilious vomiting
Abdominal distention
Infancy
Failure to thrive
Constipation
Abdominal distention
Episodes of diarrhea and vomiting
Signs of enterocolitis
• Explosive, watery diarrhea
• Fever
• Appears significantly ill
Childhood
Constipation
Ribbonlike, foul-smelling stools
Abdominal distention
Visible peristalsis
Easily palpable fecal mass
Undernourished, anemic appearance

Clinical Manifestations
Most children with HD are diagnosed in the first few months
of life. Clinical manifestations vary according to the age when
symptoms are recognized and the presence of complications,
such as enterocolitis (Box 26-10). A neonate usually is seen with
a distended abdomen, feeding intolerance with bilious vomiting,
and a delay in the passage of meconium. Typically, 99% of

term infants pass meconium in the first 48 hours of life, whereas

less than 10% of infants with HD do so (Gourlay, 2013). In
older children, a careful history is helpful.
Diagnostic Evaluation
In the neonate the diagnosis is suspected on the basis of clinical
signs of intestinal obstruction or failure to pass meconium. In
infants and children the history is an important part of diagnosis
and typically includes a chronic pattern of constipation.
On examination the rectum is empty of feces, the internal
sphincter is tight, and leakage of liquid stool and accumulated
gas may occur if the aganglionic segment is short. A contrast
enema often demonstrates the transition zone between the
dilated proximal colon (megacolon) and the aganglionic distal
segment. However, this typical megacolon and narrow distal
segment may not develop until the age of 2 months or later.
To confirm the diagnosis, rectal biopsy is performed either
surgically to obtain a full-thickness biopsy specimen or by
suction biopsy for histologic evidence of the absence of ganglion
cells. A noninvasive procedure that may be used is anorectal
manometry, in which a catheter with a balloon attached
is inserted into the rectum. The test records the reflex pressure
response of the internal anal sphincter to distention of the
balloon. A normal response is relaxation of the internal sphincter,
followed by a contraction of the external sphincter. In HD
the external sphincter contracts normally but the internal
sphincter fails to relax.
Therapeutic Management
The majority of children with HD require one of three operative
procedures: a Soave pull-through, the Swenson procedure,
and the Duhamel procedure (Gourlay, 2013). Once the child is
stabilized with fluid and electrolyte replacement and colonic
cleansing with enemas, if needed, surgery is performed, usually
with a high rate of success. Surgical management consists primarily
of the removal of the aganglionic portion of the bowel
to relieve obstruction, restore normal motility, and preserve the
function of the external anal sphincter. The transanal Soave
endorectal pull-through procedure consists of pulling the end
of the normal bowel through the muscular sleeve of the rectum,
from which the aganglionic mucosa has been removed. With
earlier diagnosis the proximal bowel may not be extremely distended,
thus allowing for a primary pull-through or one-stage
procedure and eliminating the need for a temporary colostomy.
Simpler operations, such as an anorectal myomectomy, may be
indicated in very short-segment disease.
After the pull-through procedure, anal stricture and incontinence
may occur and require further therapy, including dilations
or bowel retraining therapy. Constipation and fecal
incontinence are chronic problems in a small proportion of
patients after surgical correction for HD (Fiorino and Liacouras,
2011).
Nursing Care Management
The nursing concerns depend on the child’s age and the type of
treatment. If the disorder is diagnosed during the neonatal
period, the main objectives are to help the parents adjust to a

congenital defect in their child, foster infant-parent bonding,

prepare the parents for the medical-surgical intervention, and
prepare the parents to assume the care of the child after surgery.
The child’s preoperative care depends on the age and clinical
condition. A child who is malnourished may not be able to
withstand surgery until his or her physical status improves.
Often this involves symptomatic treatment with enemas and a
low-fiber, high-calorie, high-protein diet. Physical preoperative
preparation includes the same measures that are common to
any surgery. (See Surgical Procedures, Chapter 23.) In the
newborn, whose bowel is presumed sterile, no additional preparation
is necessary. However, in other children, preparation for
the pull-through procedure involves emptying the bowel with
repeated saline enemas and decreasing bacterial flora with oral
or systemic antibiotics and colonic irrigations using antibiotic
solution. Enterocolitis is the most serious complication of HD.
Emergent preoperative care includes frequent monitoring of
vital signs and blood pressure for signs of shock; monitoring
fluid and electrolyte replacements, as well as plasma or other
blood derivatives; and observing for symptoms of bowel perforation,
such as fever, increasing abdominal distention, vomiting,
increased tenderness, irritability, dyspnea, and cyanosis.
Postoperative care is the same as that for any child or infant
with abdominal surgery. (See Surgical Procedures, Chapter 23.)
In the postoperative period the nurse involves the parents in the
care of the child, allowing them to help with feedings and
observe for signs of wound infection or irregular passage of
stool (constipation or true incontinence). After surgery, parents
need instruction concerning the development of complications
such as enterocolitis, fecal incontinence, and obstruction. Some
children will require daily anal dilatations in the postoperative
period to avoid anastomotic strictures; parents are often taught
to perform the procedure in the home and will need encouragement
and detailed instructions in order to perform these dilatations
(Temple, Shawyer, and Langer, 2012). Although less
common, a diverting colostomy may be performed in some
children with HD. Parents are taught how to care for the colostomy
and how to provide meticulous skin care to prevent skin
breakdown; the assistance of a wound and skin care specialist
is essential for optimal follow-up and consistent skin care.
Parents may need to bring the child with an ostomy to an outpatient
clinic for support, encouragement, and additional
instructions on skin and ostoma care after the child is discharged.
In general the prognosis for the infant or child with
HD is positive and most live a normal life. In a few cases problems
with fecal incontinence may persist. Approximately 10%
of adults who had HD as a child report problems with severe
diarrhea, 5% report severe constipation, and 5% report severe
soiling (Gourlay, 2013).