Chapter 61
Hirschsprung Disease
Jacob C. Langer
Hirschsprung disease is a developmental disorder of the
enteric nervous system that is characterized by the absence
of ganglion cells in the myenteric and submucosal plexuses
of the distal intestine. This results in absent peristalsis in the
affected bowel and the development of a functional intestinal
obstruction. In most cases, the aganglionosis involves the
rectum or rectosigmoid, but it can extend for varying lengths
and in 5–10% of cases can involve the entire colon or even a
significant amount of the small intestine. The incidence of
Hirschsprung disease is approximately one in 5,000 live born
infants.
The etiology of Hirschsprung disease is incompletely
understood. Ganglion cells are derived from the neural crest
and are known to migrate through the gastrointestinal tract
from proximal to distal. Infants with Hirschsprung disease
suffer a failure of complete migration or in some cases pos-
sibly a failure of differentiation or survival of ganglion cells
in the distal bowel. There is increasing evidence that muta-
tions in a variety of genes might be the cause of Hirschsprung
disease with the most commonly identified being the Ret
proto-oncogene and the endothelin family of genes. The
mechanisms by which these mutations result in agangliono-
sis are currently under investigation.
Hirschsprung disease tends to present in one of three
ways: neonatal distal intestinal obstruction, chronic consti-
pation, or enterocolitis. Between 50 and 90% of children
with Hirschsprung disease present during the neonatal
period. This percentage has increased in recent years with
greater awareness of the disease. The neonate presents with
a distended abdomen and feeding intolerance with bile-
stained aspirates or frank emesis. Rarely, cecal perforation is
J.C. Langer (*)
Hospital for Sick Children, Division of Thoracic and General Surgery,
University of Toronto, 1526-555 University Avenue, Toronto, ON,
M5GF 1X8, Canada
e-mail: jacob.langer@sickkids.ca
P. Mattei (ed.), Fundamentals of Pediatric Surgery,
DOI 10.1007/978-1-4419-6643-8_61, © Springer Science+Business Media, LLC 2011
the initial event. Passage of meconium is usually, but not
always, delayed. Plain radiographs usually show dilated
bowel loops throughout the abdomen. The differential diag-
nosis of this presentation includes meconium ileus, meco-
nium plug syndrome, intestinal atresia, or a number of other
less common conditions.
Some children do not become obstructed in the neonatal
period but present later with chronic constipation. This is
most common among breast-fed infants, who sometimes
develop constipation around the time of weaning. Although
most children who present after the neonatal period have
short-segment disease, this history can also be found in
those with long segment or even total colonic disease, par-
ticularly if the child has been exclusively breast-fed. Because
constipation is frequently seen in childhood, it is often dif-
ficult to differentiate Hirschsprung disease from more com-
mon causes of constipation. Clinical features that point to
this diagnosis include failure to pass meconium in the first
48 h of life, failure to thrive, gross abdominal distention and
dependence on enemas without significant encopresis.
Approximately 10% of children with Hirschsprung dis-
ease present with fever, abdominal distention and diarrhea
due to Hirschsprung-associated enterocolitis (HAEC), which
can be chronic or severe and life-threatening. As Hirschsprung
disease is generally thought of as causing constipation, the
diagnosis can easily be missed. A careful history, including
the failure to pass meconium and the presence of intermittent
obstructive episodes, should lead to an investigation for
Hirschsprung disease. The etiology of HAEC is unclear, but
it is thought that stasis and bacterial overgrowth caused by
the functional obstruction of the aganglionic bowel plays a
role. Particular infectious agents such as Clostridium difficile
or rotavirus have been postulated as causative, but there is
little evidence to support a specific pathogen. There is some
evidence implicating alterations in intestinal mucin produc-
tion and defects in the mucosal production of immunoglobu-
lins in children with HAEC, which presumably results in loss
of intestinal barrier function and allows bacterial invasion.
475
476
Many children with Hirschsprung disease have other
anomalies, such as malrotation, genitourinary abnormalities,
congenital heart disease, limb abnormalities, cleft lip and
palate, hearing loss, mental retardation and dysmorphic fea-
tures. In addition, it is sometimes seen in association with
certain syndromes such as trisomy 21, congenital central
hypoventilation syndrome, or one of the neurocristopathies.
Diagnosis
For the neonate with a clinical picture and plain radiographs
suggesting distal neonatal bowel obstruction, the first step in
the diagnostic pathway should be a water-soluble contrast
enema. The pathognomonic finding of Hirschsprung disease
on contrast enema is a transition zone between normal and
aganglionic bowel (Fig. 61.1). It is important to use a water-
soluble material, since the enema could be the definitive
Fig.  61.1  Water soluble contrast enema demonstrating a transition
zone in the rectosigmoid. The lateral view is the most important one to
identify a low transition zone. Other findings on the contrast enema
which suggest the diagnosis of Hirschsprung disease include a recto-
sigmoid index (the ratio of rectal diameter/sigmoid diameter) less than
1.0, and retention of contrast on a 24-h post-evacuation film
J.C. Langer
treatment for some of the other conditions in the differential
diagnosis, such as meconium ileus and meconium plug syn-
drome. It is also important to remember that approximately
10% of neonates with Hirschsprung disease lack a demon-
strable transition zone, so a negative contrast study does not
definitively rule out the disease. In older children, an un-
prepped barium enema should be done rather than a water-
soluble contrast study. The absence of a transition zone is
less common in this age group, but can easily be missed if
the aganglionic segment is very short.
The recto-anal inhibitory reflex (reflex relaxation of the
internal anal sphincter in response to rectal distension) is
present in normal children but absent in the vast majority of
children with Hirschsprung disease. Anorectal manometry
is not widely available for neonates and can be somewhat
operator dependent. In older children, the test is technically
easier but false positive results may occur due to masking of
the relaxation response by contraction of the external
sphincter or artifacts created by movement or crying.
Anorectal manometry is most useful in the evaluation of the
older child with chronic constipation, where documentation
of a normal recto-anal inhibitory reflex effectively rules out
Hirschsprung disease and avoids the need for a rectal
biopsy.
Definitive diagnosis of Hirschsprung disease is based on
histological evaluation of a rectal biopsy. In neonates, most
surgeons use a suction biopsy technique, which is very safe,
painless, and can be performed at the bedside. For children
in whom the suction biopsy yields an inadequate specimen
(inflammatory exudate, uncooperative patient, active stool-
ing, technical difficulties) and in older children, punch
biopsies or full-thickness open biopsies provide more tis-
sue and deeper levels but often require sedation or general
anesthesia.
The absence of ganglion cells is the hallmark of the dis-
ease and in most cases hypertrophied nerve trunks should be
noted as a way to confirm the diagnosis. Because there is
normally a paucity of ganglion cells in the area 0.5–1.0 cm
above the dentate line, the biopsy should be taken at least
1.0–1.5 cm above it; however taking the biopsy too far proxi-
mally may miss a short aganglionic segment. The biopsy
analysis can be enhanced by staining for acetylcholinest-
erase, which has a characteristic staining pattern in the sub-
mucosa and mucosa and is markedly increased in patients
with Hirschsprung disease.
Treatment
The first priority is resuscitation, particularly in neonates
with intestinal obstruction or enterocolitis. Intravenous ­fluids
61  Hirschsprung Disease
and antibiotics should be administered and a nasogastric
tube should be inserted. Children with enterocolitis should
undergo active colonic decompression using digital rectal
stimulation and saline rectal irrigations (10–20 mL/kg every
6–8  h), and, if extremely ill, an urgent diverting ostomy.
Children with associated abnormalities such as cardiac
­disease or congenital central hypoventilation syndrome must
have these issues dealt with prior to definitive surgical
repair.
Once a child has been stabilized and decompressed, sur-
gery can usually be done semi-electively. While waiting for
surgery, most children can be fed breast milk or an elemental
formula, in combination with rectal stimulation and irriga-
tions. Those that do not tolerate oral or nasogastric feeds can
be nourished with parenteral nutrition. In the older child
with an extremely dilated colon, weeks or months of irriga-
tions may permit the colon to come down to a more normal
size prior to definitive surgery, though some might benefit
from a colostomy in order to adequately decompress the
dilated colon.
The goals of surgical management for Hirschsprung
disease are to remove the aganglionic bowel and recon-
struct the intestinal tract by bringing the normally inner-
vated bowel down to the anus while preserving normal
sphincter function. The most commonly performed opera-
tions are the Swenson, Duhamel and Soave procedures.
There is no compelling evidence that any one is best and
all three are acceptable options in the hands of a well-
trained and experienced surgeon. Outside of North America
the Rehbein operation is still done and some surgeons also
advocate simple anal myectomy for patients with short-
segment disease.
The initial description of a surgical approach to
Hirschsprung disease was by Swenson in the late 1940s.
Swenson’s initial description was a one-stage procedure,
but a relatively high incidence of stricture, leak and other
adverse outcomes led him and others to routinely perform a
preliminary colostomy and, following a period of growth, a
subsequent reconstructive operation. This approach per-
sisted until the 1980s, when a number of surgeons reported
series of single-stage pull-through procedures even in small
infants. Since then, one-stage operations have become
increasingly popular and many have documented the safety
of the approach. A single-stage procedure avoids the known
morbidity of stomas in infants and is probably more cost
effective. It is important to remember, however, that a stoma
may still be indicated for children with severe enterocolitis,
perforation, malnutrition, or massively dilated proximal
bowel. A staged approach should also be used in situations
where there is inadequate pathology support to reliably
identify the transition zone on frozen section from the
operating room.
477
In the early 1990s, Georgeson described a laparoscopic
approach to surgery for Hirschsprung disease. This operation
involves laparoscopic biopsy to identify the transition zone
and mobilization of the rectum below the peritoneal reflec-
tion, followed by a short mucosal dissection performed tran-
sanally. The rectum is then everted through the anus and the
anastomosis completed from below. This approach has been
associated with a shorter time in hospital and the early results
appear to be equivalent to those reported for the open proce-
dures. Excellent short-term results have also been reported
for laparoscopic versions of the Duhamel and Swenson
operations.
The transanal Soave procedure utilizes the same mucosal
dissection from below as the Georgeson operation, but
without intra-abdominal mobilization of the rectum. The
mucosal incision is made 0.5–1.0 cm above the dentate line
and the mucosa is stripped from the underlying muscle for
a distance of several centimeters. The rectal muscle is then
incised circumferentially, and the dissection is continued
on the rectal wall, dividing the vessels where they enter the
rectum. The entire rectum and part of the sigmoid colon
can be delivered through the anus. The transition zone is
identified visually and confirmed by frozen-section biopsy
and the anastomosis is completed transanally (Fig.  61.2).
This approach can also be used in a patient with a colos-
tomy, by using the stoma as the end of the pull-through and
performing the rest of the dissection using the transanal
technique. The transanal approach has a low complication
rate, requires minimal analgesia, and is associated with
early feeding and discharge. Although there have been no
studies published to date comparing the transanal and lap-
aroscopic approaches, the transanal pull-through can be
done by any pediatric surgeon, including those without lap-
aroscopic skills, and by pediatric surgeons in parts of the
world where access to appropriately miniaturized laparo-
scopic equipment is limited.
There is controversy surrounding the need to determine
the level of the transition zone prior to beginning the anal
dissection during the laparoscopic or transanal pull-through.
Proponents of preliminary biopsy point to the inaccuracy of
the contrast enema in predicting the level of aganglionosis:
approximately 8% of children with an apparent rectosigmoid
transition zone on contrast study turn out to have a more
proximal pathological transition zone at operation. This is
particularly important for the surgeon who does a different
operation for long-segment disease than for rectosigmoid
disease. Options include biopsy by laparoscopy or through a
small umbilical incision, both of which can also be used to
mobilize the splenic flexure in children with higher transition
zones. The advantage of the umbilical approach is that it can
be done by any surgeon, anywhere in the world, and doesn’t
require laparoscopic skills or equipment.
478
Fig. 61.2  The transanal Soave pull-through. (a) An umbilical incision
is used for a preliminary biopsy. A Heger dilator is used to push the
sigmoid into the umbilical incision. (b) Eversion sutures are placed, and
a nasal speculum is used to provide exposure to the anal canal. A cir-
cumferential incision is made 5 mm from the dentate line. (c) The sub-
mucosal dissection is carried 2–3 cm. (d) Once the muscle cuff has been
Postoperative Care
Postoperatively, the child is fed immediately and most can be
discharged within 24–48 h. The anastomosis should be cali-
brated with a dilator or finger 1–2 weeks after surgery.
J.C. Langer
divided circumferentially, the dissection is carried proximally, staying
right on the colonic wall. (e) The bowel is divided at least 2 cm above
the biopsy showing ganglion cells, and the anastomosis is performed.
Care must be taken to do the anastomosis to the rectal mucosa, not to
the transitional epithelium, or normal sensation will be lost and the risk
of incontinence will be increased
Although many surgeons have the parents dilate the anus on
a daily basis, we have found that this is unnecessary in most
cases and weekly calibration is adequate for a period of 4–6
weeks. Protection of the buttocks with a barrier cream is
mandatory, since at least 50% of children will have frequent
stools postoperatively and are prone to perineal skin
61  Hirschsprung Disease
b­ reakdown. Fortunately, this problem tends to resolve over
time. The family should be educated about the signs and
symptoms of enterocolitis (fever, lethargy, abdominal disten-
sion, diarrhea, passage of blood or mucus from the anus) and
told to bring the child to the hospital immediately if there is
any concern.
Long-term problems in children with Hirschsprung dis-
ease include ongoing obstructive symptoms, incontinence
and enterocolitis. Quite often an individual child may have a
combination of problems. These complications are more
common than previously recognized and it is incumbent
upon the surgeon to follow these children closely, at least
until they are through the toilet training process.
Obstructive Symptoms
Abdominal distension, bloating, vomiting or ongoing severe
constipation may be present immediately after surgery, or
may develop later after an initial period of normal bowel func-
tion. The five major reasons for persistent obstructive symp-
toms following a pull-through are: mechanical obstruction,
recurrent or acquired aganglionosis, disordered motility in the
proximal colon or small bowel, internal sphincter achalasia or
functional megacolon caused by stool-holding behavior. An
organized approach to this problem is essential (Fig. 61.3).
Fig. 61.3  Algorithm for the
investigation and management of
the child with obstructive
symptoms following a pull-
through. (Reprinted from Langer
JC. Persistent obstructive
symptoms after surgery for
Hirschprung’s disease: develop-
ment of a diagnositc and
therapeutic algorithm. J Ped
Surg. 2004;39:1458–62, with
permission from Elsevier)
479
Mechanical obstruction is usually the result of a stricture
after a Swenson or Soave procedure, or a retained aganglionic
spur from a Duhamel procedure, which can fill with stool and
obstruct the pulled-through bowel. Obstruction can be identi-
fied using digital rectal examination and a contrast enema.
Although some strictures can be managed using repeated dil-
atations, many require an operative revision of the pull-
through. Duhamel spurs can be resected from above or
managed by extending the staple line from below, with or
without laparoscopic visualization.
Children who present with obstructive symptoms after a
pull-through procedure should undergo rectal biopsy to con-
firm the presence of ganglion cells above the anastomosis or
in the posterior aspect of the neorectum in patients who have
had a Duhamel procedure. Persistent or acquired agangli-
onosis is rare and may be due to pathologist error, a transi-
tion zone pull-through or ganglion cell loss after the
pull-through. The pathology from the original operation
should be carefully reviewed to ensure that there was normal
innervation at the proximal margin. In most cases, the best
treatment for persistent or acquired aganglionosis is a repeat
pull-through. This can be done using either a Soave or a
Duhamel approach.
Children with Hirschsprung disease may have an associ-
ated motility disorder, which can be focal (usually involving
the left colon) or diffuse. In some cases these abnormalities are
associated with histological abnormalities such as intestinal
480
neuronal dysplasia. In children who have been shown not to
have a mechanical obstruction and who have normal ganglion
cells on rectal biopsy, investigations for a motility disorder
should be undertaken. This includes a radiographic shape
study, radionuclide colon transit study, colonic manometry
and laparoscopic biopsies looking for intestinal neuronal dys-
plasia. If a focal abnormality is found, consideration should be
given to resection and repeat pull-through using normal bowel.
If the abnormality is diffuse, the appropriate treatment is bowel
management and the use of prokinetic agents.
Internal sphincter achalasia refers to the lack of a normal
recto-anal inhibitory reflex that is present in all children with
Hirschsprung disease but can in some can significantly
impair normal defecation. This is a diagnosis of exclusion,
after ruling out mechanical obstruction, aganglionosis and
dysmotility. The standard treatment has been internal sphinc-
terotomy or myectomy, but since this problem tends to
resolve on its own in most children, we prefer the use of
intrasphincteric botulinum toxin. In many cases, repeated
injection of botulinum toxin or applications of nitroglycerine
paste or topical nifedipine are necessary while waiting for
resolution of the problem.
Functional megacolon refers to stool-holding behavior,
which is a common cause of constipation in children without
Hirschsprung disease, and is probably even more common in
children with the disease. This problem is best treated using
a bowel management regimen consisting of laxatives, ene-
mas and behavior modification, including support for the
child and family. In the most severe cases, the child may best
be served by cecostomy for administration of antegrade ene-
mas or even an ostomy, either of which can usually be
reversed when the child reaches adolescence.
Incontinence
Incontinence after a pull-through can be caused by abnormal
sphincter function, abnormal sensation or “overflow” incon-
tinence due to severe chronic constipation. Abnormal sphinc-
ter function might be due to sphincter injury during the
pull-through or to a previous myectomy or sphincterotomy.
Anorectal manometry can usually identify this problem.
Abnormal sensation sometimes involves lack of sensation of
a full rectum (identifiable using anorectal manometry), or
due to loss of the transitional epithelium if the anastomosis
was made too low. If both sphincter function and sensation
are intact, a common cause of incontinence after a pull-
through is overflow of stool because of ongoing constipation.
This should be managed with laxatives and bowel manage-
ment. A final consideration is hyper-peristalsis in the pulled-
through bowel, which makes it difficult for the child to
control his stools despite normal sphincter function. Children
J.C. Langer
with this problem might benefit from a constipating diet along
with bowel management.
Enterocolitis
Enterocolitis may be present both before and after surgical
correction of the disease, and can be very severe, even life-
threatening. Although the clinical features of enterocolitis
are generally agreed upon (fever, abdominal distention, diar-
rhea), a precise definition has not been developed. Recurrent
enterocolitis is more common in children with long-segment
disease and those with trisomy 21.
The treatment of postoperative enterocolitis involves
nasogastric drainage, intravenous fluids, broad-spectrum
antibiotics and decompression of the rectum and colon using
rectal stimulation and irrigations. To minimize the risk of
recurrence, consider routine rectal irrigations, daily adminis-
tration of metronidazole and probiotic agents, particularly in
those who are thought to be at highest risk based on clinical
or histological grounds. Since enterocolitis is the most com-
mon cause of death in children with Hirschsprung disease
and can occur postoperatively even in children who did not
have it preoperatively, it is extremely important that the sur-
geon educate the family about the risk of this complication
and urge early return to the hospital if the child should
develop any of the characteristic symptoms.
Despite the relatively common occurrence of postoperative
problems, most children with Hirschsprung disease overcome
these issues and do very well. Obstructive symptoms, inconti-
nence and enterocolitis, in the absence of an ongoing source
of obstruction, usually resolve after the first 5 years of life. For
the vast majority of patients, sexual function, social satisfac-
tion and quality of life all appear to be normal. Two specific
subgroups have less optimistic outcomes, namely children
with long-segment disease or trisomy 21. For reasons that are
not entirely clear, both have a higher risk of enterocolitis,
incontinence and recurrent bouts of dehydration. Finally, the
prognosis is poor for children with co-morbidities, such as
those with congenital central hypoventilation syndrome, con-
genital heart disease, and syndromes that are associated with
mental retardation or other forms of disability.
Special Forms of Hirschsprung Disease
Long-Segment Hirschsprung Disease
Long-segment Hirschsprung disease is defined as a transition
zone which is proximal to the mid-transverse colon. The most
61  Hirschsprung Disease
common form (5–10%) is total colonic aganglionosis, which
usually also includes at least part of the distal ileum. In rare
cases, most or all of the small bowel is also involved. Long-
segment disease is more likely to be associated with a positive
family history and more frequently diagnosed prenatally.
Contrast enema typically reveals a shortened, relatively narrow
colon, often with a transition zone in the small bowel. The rec-
tal biopsy shows absence of ganglion cells, but in many cases
there are no hypertrophic nerves or abnormalities of acetylcho-
linesterase staining.
Early resuscitation and management is similar to that
described for standard Hirschsprung disease. Laparotomy or
laparoscopy should be done and biopsies obtained for frozen
section identification of the transition zone. For surgeons
who choose not to use a laparoscopic approach, a small
umbilical incision can be used to access all parts of the colon,
and the ileostomy, if necessary, can be brought out through
the umbilical incision. Although initial biopsies can be
focused on an obvious area of size discrepancy, the patho-
logical transition zone may differ from what the surgeon sees
grossly. Some surgeons start with an appendectomy, assum-
ing that lack of ganglion cells in the appendix is diagnostic of
total colonic disease, however, this has resulted in a false
positive diagnosis of total colonic Hirschsprung disease,
since there may be a paucity of ganglion cells in the appen-
dix even in children with shorter segment disease.
Once the level of aganglionosis has been identified, most
surgeons create a stoma, wait for permanent sections, and do
a definitive reconstructive procedure at several months of
age. Although primary pull-through without ileostomy for
total colonic disease has been reported, this approach requires
a high degree of confidence in the pathologist, since it requires
doing a total colectomy on the basis of frozen sections alone.
In addition, many surgeons believe that the results of pull-
through surgery are better once the stool has thickened, which
usually occurs after the first few months of life.
The options for reconstruction of children with long-segment
Hirschsprung disease can be divided into three main categories:
straight pull-through, colon patch and J-pouch construction.
Straight pull-through procedures can be done using any one of
the standard techniques (Swenson, Duhamel, Soave), and can
be done open, through a small umbilical mini-laparotomy or
laparoscopically. The concept of a colon patch is to do a side-to-
side anastomosis between normally innervated small bowel and
aganglionic colon, using the small bowel for motility and the
colon for water absorption and as a reservoir for storage of stool.
Options include the Martin procedure, which consists of a long
Duhamel reconstruction involving the entire left colon, or the
Kimura procedure, which uses the right colon and requires a
staged approach. Several authors have published modifications
of Kimura’s operation. Although the colon patch procedures
theoretically result in decreased stool output due to better water
absorption, the aganglionic colon gradually tends to dilate, and
481
many of these patients develop severe enterocolitis requiring
removal of the patch or a permanent stoma. The J-pouch proce-
dure is the same as that done commonly for children and adults
with ulcerative colitis and familial polyposis syndrome.
Although it has been used by a small number of surgeons for
Hirschsprung disease, there has been little written about the
results of this approach.
Near-Total Intestinal Aganglionosis
This condition is extremely rare and results in intestinal fail-
ure and the need for total parenteral nutrition from birth, a
situation associated with a very high risk of mortality from
liver failure. The extent of aganglionosis should be estab-
lished at the time of the first laparotomy, and a stoma brought
out at the most distal point that has normally innervated
bowel. Some surgeons prefer to bring out a more distal
stoma, but this increases the risk of chronic intestinal obstruc-
tion and bacterial overgrowth. A central venous catheter
should be inserted for parenteral nutrition and a gastrostomy
should be considered for continuous “trophic” feeding with
breast milk or elemental formula.
There are several surgical options available for the man-
agement of near-total intestinal aganglionosis, particularly
for those in whom there is not enough absorptive capacity
and inadequate adaptation. For those children who develop
significant proximal dilatation of the normally innervated
bowel, tapering, imbrication or bowel lengthening proce-
dures such as the Bianchi or serial transverse enteroplasty
(STEP) procedure should be considered. Zeigler has popu-
larized a technique known as “myectomy-myotomy,” in
which a long myectomy is created along the length of agan-
glionic small bowel distal to the transition zone. Although a
few successful cases using this technique have been reported,
most surgeons have not found it to be successful and have
noted a high complication rate. For children with ongoing
liver failure, small bowel or combined small bowel-liver
transplantation might offer the only chance for survival.
“Variant” Hirschsprung Disease
There are a number of conditions that resemble Hirschsprung
disease in presentation and clinical course, but are not char-
acterized by absence of ganglion cells on rectal biopsy. The
diagnostic criteria, clinical features and even the existence of
many of these conditions remain controversial. The best
known is intestinal neuronal dysplasia (IND), which in its
usual form consists of dysplasia of the submucous plexus
with thickened nerve fibers and giant ganglia, increased
482 J.C. Langer

a­ cetylcholinesterase staining, and identification of ectopic
ganglion cells in the lamina propria. It is often present in chil-
dren who also have Hirschsprung disease, although it occurs
by itself. Hypoganglionosis is even rarer and is characterized
by sparse, small ganglion cells, usually in the distal bowel.
There can also be abnormalities in acetylcholinesterase dis-
tribution. It is important to differentiate hypoganglionosis
from immature ganglion cells, which is seen in preterm chil-
dren who present with distal intestinal obstruction due to
underdeveloped colonic motility; this is self-limited and
therefore should not be treated surgically. Both IND and
hypoganglionosis can be either focal or diffuse. If the lesion
is focal, the appropriate treatment is to resect the abnormal
colon and perform a pull-through procedure, much as one
would do for a child with Hirschsprung disease. If the prob-
lem is diffuse, surgery is not indicated and bowel ­management
combined with prokinetic agents is the treatment of choice.
Virtually all children with Hirschsprung disease lack
the recto-anal inhibitory reflex. However, there are some
children with ganglion cells present on rectal biopsy who
also lack the inhibitory reflex and may develop obstruc-
tive symptoms that resemble those of Hirschsprung dis-
ease. This condition has been termed internal sphincter
achalasia or ultra-short segment Hirschsprung disease
(although others reserve the latter term for children with a
documented aganglionic segment of less than 3–4  cm).
These children should be initially managed with a bowel
management regimen. If this is unsuccessful, some sur-
geons advocate anal sphincter myectomy. Others have had
success with temporary sphincter-relaxing measures such
as botulinum toxin or nitroglycerine paste. The latter
choices have some appeal due to the likelihood that the
symptoms will improve significantly over time in most of
these children.

Summary Points
• Hirschsprung disease must be considered in any neonate with distal intestinal obstruction, or any older child with
persistent severe constipation or enterocolitis.
• Although the diagnosis can be suspected on the basis of history, physical examination, and radiology, the gold stan-
dard for diagnosis is an adequate rectal biopsy showing aganglionosis.
• Most children can be treated with a one-stage pull-through procedure, although a stoma may still be appropriate for
those with severe enterocolitis, malnutrition, massive colonic distention, inadequate pathology support, or long-seg-
ment disease.
• The Swenson, Soave, and Duhamel procedures are all excellent, and the surgeon should do the operation that he/she
is trained to do and does frequently. The laparoscopic and transanal approaches are associated with less pain, earlier
feeding, and shorter hospital stay than the open procedures.
• When doing a laparoscopic or transanal pull-through, a preliminary biopsy should be done to identify the pathological
transition zone prior to beginning the anal dissection. This can be done laparoscopically or through an umbilical
incision.
• Many patients will have ongoing problems after a pull-through, including obstructive symptoms, incontinence, and
enterocolitis. An organized approach to diagnosing and managing these complications is essential.
• Patients with long-segment disease, trisomy 21, and other syndromes and anomalies are at higher risk for problems
and complications.

Editor’s Comment
When done by experienced surgeons, the clinical outcomes of
the various operations for the treatment of Hirschsprung dis-
ease are all quite similar. It is therefore important to become
very familiar with one of the procedures described. I prefer
the transanal Soave, with laparoscopic assistance when the
transition zone is in question or if the splenic flexure needs to
be taken down to mobilize the distal colon. I try to avoid
colostomies whenever possible, but for infants with total
colonic aganglionosis I perform an ileostomy followed by an
ileal Duhamel between 6 and 12 months of age. Likewise, I
will usually recommend a temporary colostomy for children
who present late and have a true megacolon and most patients
with trisomy 21.
It is important to realize that the operation for Hirschsprung
disease is not curative, but rather palliative. Most children con-
tinue to have some degree of constipation and are at risk for
enterocolitis. This is probably due to the fact that the sphincter
is abnormal, the recto-anal reflex remains dysfunctional, and,
as research has shown, there is more to this disease than sim-
ply a lack of ganglion cells. Nevertheless, most patients can
function reasonably normally and do well in the long term.
The exceptions are patients with long-segment ­disease and
those with trisomy 21, who generally do quite poorly for a
long time, though most seem to improve eventually.
61  Hirschsprung Disease
When a patient fails, it is important to do a rectal biopsy
to rule out recurrent aganglionosis, even though we fear that
others will be critical of our initial operation. Although some
few cases might appropriately be blamed on surgeon or
pathologist error, in many cases there is clearly an as yet
unexplained and mysterious process at work (ischemia? den-
ervation?) that causes ganglion cells to disappear. These
patients are probably best served by redoing the pull-through,
which, if enough time has passed, is not always as difficult as
one would expect. To avoid pulling through the transition
zone, it is important to rely on the intra-operative biopsies
and ignore the results of the contrast enema. Finally, when
performing a Soave procedure, it is probably best to avoid
excessive stretching of the anal sphincter, create only a short
muscular cuff, and always perform a complete myotomy of
the cuff in the midline posteriorly.
Differential Diagnosis
Neonatal presentation
• Meconium ileus
• Intestinal atresia
• Meconium plug syndrome
• Obstructing congenital band
• High anorectal malformation
• Motility disorder/intestinal pseudo-obstruction
• Systemic problem (i.e., septic ileus, hypothy-
roidism, electrolyte disorder)
Chronic constipation
• Colonic motility disorder
• Internal sphincter achalasia
• Intestinal neuronal dysplasia/hypoganglionosis/
desmosis coli
• Functional megacolon/stool-holding behavior
Enterocolitis
• Gastroenteritis
• Malabsorption
• Necrotizing enterocolitis
• Malrotation and volvulus
• Congenital chloride diarrhea
Diagnostic Studies
• Plain abdominal radiograph
• Contrast enema
• Anorectal manometry
• Rectal biopsy
483
Parental Preparation
−− The diagnosis of Hirschsprung disease can only be
confirmed by rectal biopsy.
−− A temporary colostomy is sometimes necessary to
increase the likelihood of a good long-term result.
−− Most children with Hirschsprung disease do well and
live a full and normal life, but some have ongoing
problems.
Preoperative Preparation
□□ Make sure the diagnosis is definitive, based on
review of the rectal biopsy by an experienced pedi-
atric pathologist
□□ Settle down any enterocolitis by using antibiotics
and bowel irrigation
□□ Preoperative prophylactic antibiotics
□□ Informed consent
Technical Points
• Wash out rectum and distal colon in the operating
room prior to beginning.
• Preliminary biopsy to determine normal ganglion
cells using either laparoscopy or umbilical
incision.
• Start mucosal incision 5–10 mm from dentate line,
depending on the size of the child. Making the anas-
tomosis too low will predispose to incontinence
from interference with sensation, and making the
anastomosis too high will predispose to persistent
obstructive symptoms.
• Make a short rectal cuff, no more than 2–3 cm long.
If you do make a longer cuff, make sure to divide it
before completing the pull-through.
• Once in the extra-rectal space, keep dissection right
on the wall of the colon.
• Divide bowel and do anastomosis at least 2  cm
above the biopsy showing normal ganglion cells, to
avoid a transition zone pull-through.
Suggested Reading
Amiel J, Lyonnet S. Hirschsprung disease, associated syndromes, and
genetics: a review. J Med Genet. 2001;38(11):729–39.
Dasgupta R, Langer JC. Diagnosis and management of persistent prob-
lems after surgery for Hirschsprung disease in a child. J Pediatr
Gastroenterol Nutr. 2008;46:13–9.
484
Georgeson KE, Cohen RD, Hebra A, et  al. Primary laparoscopic-
assisted endorectal colon pull-through for Hirschsprung disease: a
new gold standard. Ann Surg. 1999;229:678–83.
Hoehner JC, Ein SH, Shandling B, Kim PCW. Long-term morbidity in
total colonic aganglionosis. J Pediatr Surg. 1998;33:961–5.
Langer JC. Persistent obstructive symptoms after surgery for
Hirschprung’s disease: development of a diagnositc and therapeutic
algorithm. J Ped Surg. 2004;39:1458–62.
Langer JC, Durrant AC, de la Torre L, et al. One-stage transanal Soave
pullthrough for Hirschsprung disease: a multicenter experience
with 141 children. Ann Surg. 2003;238(4):569–83; discussion
83–5.
J.C. Langer
Minkes RK, Langer JC. A prospective study of botulinum toxin for
internal anal sphincter hypertonicity in children with Hirschsprung
disease. J Pediatr Surg. 2000;35(12):1733–6.
Pini Prato A, Gentilino V, Giunta C, Avanzini S, Mattioli G, Parodi S,
et al. Hirschsprung disease: do risk factors of poor surgical outcome
exist? J Pediatr Surg. 2008;43:612–9.
Teitelbaum DH, Coran AG. Enterocolitis. Sem Pediatr Surg. 1998;
7:162–9.
Teitelbaum DH, Coran AG. Reoperative surgery for Hirschsprung dis-
ease. Sem Pediatr Surg. 2003;12:124–31.
Yanchar NL, Soucy P. Long-term outcomes of Hirschsprung disease:
the patients’ perspective. J Pediatr Surg. 1999;34:1152–60.