Seminars in Pediatric Surgery (2008) 17, 266-275

Hirschsprung disease
Ramanath N. Haricharan, MBBS, MPH, Keith E. Georgeson, MD

From the Division of Pediatric Surgery, Department of General Surgery, University of Alabama at Birmingham,
Birmingham, Alabama.

KEYWORDS Hirschsprung disease is a relatively common condition managed by pediatric surgeons. Significant
Hirschsprung disease; advances have been made in understanding its etiologies in the last decade, especially with the
Enterocolitis; explosion of molecular genetic techniques and early diagnosis. The surgical management has pro-
Endorectal gressed from a two- or three-stage procedure to a primary operation. More recently, definitive surgery
pull-through; for Hirschsprung disease through minimally invasive techniques has gained popularity. In neonates, the
Postoperative advancement of treatment strategies for Hirschsprung disease continues with reduced patient morbidity
complications; and improved outcomes.
Risk factors; © 2008 Elsevier Inc. All rights reserved.
Ganglionated bowel

Hirschsprung disease (HSCR) was first described by contributed to earlier diagnosis and management of neo-
Harald Hirschsprung in older children in 1886. The patho- nates with HSCR.6 This chapter is intended to highlight
genesis remained elusive for several decades, until the late important aspects of HSCR, with particular focus on
1940s, when the distal aganglionosis was noted.1,2 In sub- neonates.
sequent years, it was realized that the inability of the colon
to empty secondary to functional obstruction was a major
contributing factor for disease progression. Swenson and
Bill, Duhamel, and Soave developed various operations, Etiology
usually involving two or three stages, for surgical manage-
Cellular and molecular abnormalities during the develop-
ment of HSCR.2,3 Single-stage pull-through was described
ment of enteric nervous system (ENS) and migration of
by So and coworkers in 19804,5 and, since then, has been
neural crest cells into the developing intestine represent the
increasingly practiced. Single-stage pull-through, both
primary etiology in HSCR.7-9 Neural crest-derived neuro-
with and without laparoscopic assistance, has enabled
blasts first appear in the developing esophagus by 5 weeks
surgeons to perform definitive surgical correction at an
gestation in the human fetus. These cells migrate in a
earlier age than previously possible. Although surgical
craniocaudal fashion into the rest of the developing gut from
management of HSCR has improved considerably in re-
5 to 12 weeks of gestation.7,10 The HSCR phenotype is
cent years, the understanding of the underlying patho-
variable due to a wide range of possible abnormalities
physiology is incomplete.
during the development of ENS and the different times at
Increased awareness of HSCR, improved neonatal
which the arrest in the migration of neural crest-derived
nursing care, and the use of suction rectal biopsy have all
cells can occur.9-11 Early arrest of migration in the devel-
oping fetus leads to a long segment of aganglionosis.
Address reprint requests and correspondence: Keith E. Georgeson, Other factors, such as altered extracellular matrix com-
MD, Division of Pediatric Surgery, 1600 7th Avenue South, ACC300,
Birmingham, AL 35233. ponents, abnormalities in neurotrophic factors, and neural
This research was supported by departmental funds only. cell adhesion molecules, have also been suggested to con-
E-mail: keith.georgeson@ccc.uab.edu. tribute to the development of HSCR.10,12,13

1055-8586/$ -see front matter © 2008 Elsevier Inc. All rights reserved.
doi:10.1053/j.sempedsurg.2008.07.005
Haricharan and Georgeson Hirschsprung Disease 267

Table 1 Frequency of different types of HSCR Classification

Typical level of The proximal extent of aganglionosis from the internal anal
Types of HSCR aganglionosis Frequency (%) sphincter is helpful in classifying a majority of the patients into
Rectosigmoid Sigmoid 74-80 those with rectosigmoid HSCR, long-segment HSCR, and total
Long-segment Splenic flexure 12-22 colonic aganglionosis. Total intestinal aganglionosis and ultra-
or transverse colon short-segment HSCR are also described. Table 1 shows the
Total colonic Terminal ileum 4-13 relative frequency of common forms of HSCR.14,26-28 The
aganglionosis most severe, but rarest, form of HSCR manifests as total
intestinal aganglionosis with absent ganglion cells from
duodenum to the rectum.
Genetic factors
The increased risk of HSCR in siblings of individuals with
HSCR, the unbalanced sex ratio, and the association of HSCR Epidemiology and clinical features
with other malformation syndromes and chromosomal anom-
The incidence of HSCR is estimated to be approximately 1
alies provide evidence of underlying genetic factors of
in 5000 live births.19,28 The California Birth Defects Mon-
HSCR.14-16 Genetic studies have identified mutations in 10
itoring Program survey from 1983 to 1997 found HSCR in
different genes contributing to the development of HSCR.16
2.8 children in 10,000 live births in Asians, 2.1 in 10,000
The more common among these include mutations in RET
live births in African–Americans, 1.5 in 10,000 live births in
gene (7-35% of sporadic cases), EDNRB gene (7%), and
Whites, and 1 in 10,000 live births in Hispanics.29 HSCR
END3 gene (⬍5%).11,15,16 More than 20 different mutations
appears to have a complex inheritance with sex-dependent
have been described in the RET protooncogene, and some
penetrance. The male-to-female ratio in rectosigmoid dis-
polymorphisms in this gene are associated with particular phe-
ease is 4:1, but it is 1:1-2:1 in longer segment disease.20
notypes of HSCR (ie, rectosigmoid or long-segment dis-
With increased awareness and improved diagnostic meth-
ease).17,18
ods, the age at diagnosis of HSCR has decreased considerably
Although HSCR occurs as an isolated phenotype, it is
in the recent years to where the condition is mostly diagnosed
associated with congenital abnormalities and associated
in the newborn period.29 Singh and coworkers6 showed that
syndromes (such as trisomy 21, cardiac septal defects, con-
the diagnosis of HSCR was confirmed in the neonatal period in
genital central hypoventilation syndrome, multiple endo-
91% of children from 1997 to 2000. Delayed passage of
crine neoplasia type 2, neurofibromatosis, and Waardenburg
meconium, distended abdomen, bilious vomiting, and feeding
syndrome) in 5-32% of children with HSCR.14-16,19,20 Tri-
intolerance are the common symptoms.
somy 21 (Down syndrome) associated with HSCR is re-
Typically, a neonate with HSCR is a full-term baby30,31
ported in approximately 7% of children with HSCR.15,16
presenting with delay in passage of meconium. Almost all
Among organ systems, gastrointestinal abnormalities are
normal full-term infants pass meconium in the first 24-48
the most common, followed by central nervous system and
hours of life.32 However, 60-90% of children with HSCR
genitourinary abnormalities.15 HSCR has a complex inher-
fail to pass meconium in that time period.6,30,33 Table 2
itance with penetrance varying on the gender of the affected
highlights the differential diagnosis to be considered in a
individual. Studies have shown that the recurrence risk of
HSCR in the sibling of the proband is 4%, which translates
to a relative risk of 200.16,21
Table 2 Differential diagnosis of delayed passing
of meconium

Small intestine
Pathophysiology Intestinal atresia
Malrotation, volvulus
In HSCR, the underlying pathophysiological feature is func- Meconium ileus due to cystic fibrosis
tional obstruction caused by a narrowed colon that hinders Large intestine
Meconium plug syndrome
the propagation of peristaltic waves due to the absence of Anorectal malformation
parasympathetic intrinsic ganglion cells.22 Despite exten- Hirschsprung disease
sive research, the reason for tonic contraction of aganglionic Hypoplastic left colon syndrome
bowel is not completely clear. Aganglionosis, cholinergic Other causes
hyperinnervation, defective distribution of nerves with nitric Narcotics
Electrolyte abnormalities
oxide synthetase (NOS), and abnormalities of the interstitial Hypothyroidism
cells of Cajal have all been implicated in the pathogenesis of Sepsis
HSCR,23-25 but a complete understanding of the causative Very low birth weight infant
factors for the abnormalities seen in HSCR is elusive.
268
neonate with delayed passage of meconium. HSCR should
also be suspected in any child with difficulty passing stool
in the newborn period. In several cases, digital rectal exam-
ination may reveal a tight anus and may also lead to passage
of meconium relieving an acute intestinal obstruction.
Distended abdomen is seen in 63-91% of neonates with
HSCR, and bilious vomiting in 19-37% of children.34-36
Approximately 5%35 to 44%37 of children may present with
Hirschsprung-associated enterocolitis (HAEC). Develop-
ment of explosive foul-smelling diarrhea, fever, and abdom-
inal distension indicates HAEC, which, when unrecognized,
may further worsen to a potentially fatal toxic megacolon.
Prompt recognition of HAEC and treatment with fluid re-
suscitation, rectal irrigation, and antibiotics is important to
decrease the risk of mortality. HAEC has been suggested to
be more frequent in children in whom the diagnosis of
HSCR is delayed,6,38 highlighting the importance of early
diagnosis.
Diagnosis
HSCR should be suspected in a neonate with the aforemen-
tioned clinical presentation. Tests available for diagnosing
HSCR include contrast enema (CE), anorectal manometry
(ARM), full-thickness rectal biopsy (FTB), and rectal suc-
tion biopsy (RSB). The initial test for diagnosing HSCR
differs among various medical centers based on availability
of the test and the availability of expertise. The range of
sensitivity and specificity for CE, ARM, and RSB compared
with the gold standard FTB reported in studies that included
neonates39-47 is shown in Table 3.
Initial plain radiograph (supine, lateral decubitus, or
prone lateral view) in a baby with HSCR may show marked
gaseous distension of colon with undilated rectum with a
transition zone in-between. In a few centers, CE may usu-
ally be the first test performed to investigate a child with
suspected HSCR presenting with signs of large bowel ob-
struction.45 The features of CE suggestive of HSCR include
presence of a transition zone (TZ), irregular colonic con-
tractions, irregular mucosa suggesting enterocolitis, or an
Table 3 Range of sensitivity and specificity of tests used
to diagnose Hirschsprung disease (data from only studies
that included neonates 39-47)
Sensitivity Specificity
Test (%) (%)
Contrast enema (CE) 65-80 66-100
Anorectal manometry (ARM) 75-100 85-97
Rectal suction biopsy (RSB–AChE)* 91-100 97-100
Rectal suction biopsy (RSB–H&E)† 97-100 99-100
*RSB–AChE indicates studies using acetyl cholinesterase staining for
RSB.
†
RSB–H&E indicates studies using hematoxylin and eosin for stain-
ing for RSB.
Seminars in Pediatric Surgery, Vol 17, No 4, November 2008
abnormal rectosigmoid index (RSI).42,48 A recent system-
atic review by de Lorijn and coworkers45 estimated that the
sensitivity and specificity of CE is 70% and 83%, respec-
tively. Rosenfield and coworkers48 have reported lower sen-
sitivity of TZ for the diagnosis of HSCR in the neonatal
period compared with later in life (65% versus 75%). Dia-
mond and coworkers36 found that age ⬍30 days increased
the risk of a false-positive CE result by three times, and
Garcia and coworkers49 reported poor negative and positive
predictive values of RSI in neonates. Also, in children with
a radiological transitional zone (RTZ), the pathologic extent
of aganglionosis was concurrent to the level of RTZ ap-
proximately 63-90% of the time.50-52 In these studies, age
⬍30 days and presence of a long-segment disease increased
the chances of discordance between RTZ and the level of
aganglionosis. Conclusions from all of the above-mentioned
studies suggest that CE in the neonatal age has to be cau-
tiously interpreted.
In HSCR, ARM is done to establish the presence of high
baseline resting pressures and absence of rectoanal inhibi-
tory reflex (RAIR). The technique of ARM is described in
detail elsewhere,53 and only the principle behind the proce-
dure is discussed briefly here. In normal children, distending
the rectum with a balloon filled with air or water results in
a transient increase in rectal pressure with a simultaneous
reduction in the anal sphincter pressure. However, this
RAIR is absent in children with HSCR. The use of ARM to
assess RAIR is widely accepted in older children to diag-
nose HSCR, but ARM in neonates has been controversial,
with some studies supporting39,54 and some questioning55,56
the diagnostic accuracy of the procedure. Holschneider and
coworkers55 reported that normal rectosphincteric reflex is
present only after 14 days of age, and hence, RAIR could be
diagnostic after that. However, Tamate and coworkers54
demonstrated the presence of rectosphincteric reflex in all
60 normal neonates in their study and absence of the reflex
in neonates with HSCR. They concluded that failure to
detect the rectosphincteric reflex in the very young could be
due to technical difficulties only. Kawahara and cowork-
ers57 have successfully used a micromanometry technique
with a sleeve sensor to diagnose HSCR among neonates.
This technique appears to have improved the accuracy of
ARM.
Rectal biopsy demonstrating the absence of ganglion
cells and presence of acetyl cholinesterase (AChE)-positive
hypertrophic nerve fibers is confirmatory of HSCR. With
the advent of RSB, the confirmatory test can be done in the
outpatient setting, instead of a FTB that requires an opera-
tion under general anesthesia.58 In RSB, prophylactic anti-
biotics are given, and biopsies of the rectum are taken using
a suction biopsy tube starting at least 2.5 cm above the anal
verge. Collection of sufficient mucosa with attached sub-
mucosa must be ensured. A rectal examination is performed
after completion to exclude active bleeding. The child
should be observed for at least 1 hour before discharge.
Haricharan and Georgeson Hirschsprung Disease
Along with hematoxylin and eosin (H&E) staining of
RSB specimen, the use of AChE staining has made the
morphological diagnosis easier and more reliable.59 Several
other enzyme-staining techniques have been used to diag-
nose HSCR, such as lactate dehydrogenase, succinic dehy-
drogenase, and NADPH-diaphorase enzyme histochemis-
try.60 The reported advantages of these techniques include
rapid visualization and assessment of submucous and my-
enteric plexi. In a study evaluating the AChE-staining
method to diagnose HSCR in neonates, Nakao and cowork-
ers47 reported a sensitivity of 91%, specificity of 100%, and
false-negative rate of 8%. The authors suspected that de-
creased proliferation of AChE-positive fibers in the neonatal
period contributed to the false-negative cases. Despite this
limitation, RSB is more sensitive and specific than both CE
and ARM (Table 3), even without using other newer en-
zyme histochemistry methods.
In children presenting with enterocolitis, a histological
grading of HAEC ranging from grade I (normal mucosa) to
grade V (severe necrosis with perforation) on the rectal
biopsy specimen has been proposed by Teitelbaum and
coworkers.61 Elhalaby and coworkers62 suggested that de-
tection of histological changes of grade ⱖII enterocolitis
predicted a higher risk of subsequent development of clin-
ical HAEC. However, our results represent findings that do
not corroborate their conclusion.63
Management
After confirmation of the diagnosis, plans for operative
management are developed. If the neonate presents with
HAEC, aggressive resuscitation, rectal irrigation, and anti-
biotics are initially used to manage the enterocolitis.
Traditionally, a two- or three-stage operative repair is
done. The first stage is a diverting ostomy after doing
“leveling” colonic biopsies to determine extent of agangli-
onosis. The second stage, performed later, usually at 3
months to 1 year of age, involves resection of aganglionated
bowel and coloanal anastomosis. The preexisting stoma is
either closed at this operation or during a third-stage pro-
cedure. A number of different operations have been de-
scribed for the management of HSCR. The most commonly
used procedures include rectosigmoidectomy described by
Swenson and Bill, the retrorectal–transanal approach de-
scribed by Duhamel, and the endorectal procedure de-
scribed by Soave. These procedures have also been per-
formed using laparoscopic techniques.64-66 Yamataka and
coworkers67 performed a novel approach of laparoscopy-
assisted transanal pull-through at the time of RSB in a
carefully selected population. These authors described a
case series of children with a strong suspicion of HSCR on
CE who underwent an intraoperative confirmatory RSB and
a primary pull-through in the same setting. Rapid AChE-
staining technique was used for the RSB and to identify
ganglionated bowel.
269
Advances in neonatal nursing, anesthesia, and critical
care over the last decade have enabled the pediatric surgeon
to perform a one-stage repair for HSCR. With a majority of
patients diagnosed in the neonatal period, several centers
have employed single-stage repair with encouraging results
since the initial report by So and coworkers.3,5,35 The major
contraindications for the primary pull-through include asso-
ciated life-threatening anomalies, severe enterocolitis, se-
vere dilation of the proximal bowel, and deteriorating gen-
eral health.
At our institution, a laparoscopic-assisted transanal en-
dorectal pull-through (LATEP) is preferred in neonates pre-
senting with left-sided HSCR without any contraindications
for a primary repair. Laparoscopic biopsies provide a min-
imally invasive approach to confirm the extent of agangli-
onosis before the division of colonic mesentery or rectal
ablation. This is particularly advantageous in a neonate with
aganglionosis extending proximal to the splenic flexure or
total colonic aganglionosis that is not previously suspected.
Allowing for a delay in definitive operation until histopatho-
logical results from a permanent section are available pre-
vents unnecessary resection of long segments of colon due
to errors in rapid frozen section analysis. Furthermore,
while avoiding the morbidity of laparotomy, laparoscopy
helps to perform a tension-free mesocolic pedicle and to
ensure that there is no twisting of the pull-through segment
while anastomosing. In neonates with near-total or total
colonic aganglionosis, a primary diversion is preferred, fol-
lowed by a laparoscopic-assisted Duhamel procedure and
ostomy reversal. The Duhamel procedure may offer the
advantage of creating a larger rectal reservoir in patients
with near-total or total colonic HSCR.
The operative techniques used at our institution are dis-
cussed in detail elsewhere.68,69 Briefly, the steps in LATEP
are as follows. Port placement is as shown in Figure 1.
Seromuscular biopsies are obtained laparoscopically at var-
Figure 1 Position of ports for laparoscopic-assisted endorectal
pull-through in neonates.
270 Seminars in Pediatric Surgery, Vol 17, No 4, November 2008

Figure 2 Location of the intended transanal circumferential in-

cision (dotted line).

ious levels and sent for frozen section analysis. After the Figure 4 Mobilized colon pulled through the anus to a level
level of normal bowel is identified, the mesocolon close to proximal to the transition zone before the resection.
the aganglionic bowel is divided by using hook electrocau-
tery or ultrasonic scalpel. Transanal circumferential incision
is made 5 mm above the dentate line (Figure 2), and endo- inspection is done to ensure that the neorectum is not
rectal dissection is continued in the submucosal plane of the twisted as it goes into the pelvis and to close any potential
rectum until the muscular cuff of the rectal wall intussus- hernia space.
cepts freely and the level of the peritoneal cavity is reached.
The division of the muscular rectal wall is continued cir-
cumferentially, freeing the intraabdominal colon from the
muscle sleeve. The muscular cuff is divided posteriorly all
the way down to the level of the intended anastomosis
(Figure 3). The aganglionic colon is pulled through the
divided muscular sleeve out onto the anus (Figure 4) and
subsequently resected. Anastomosis of the ganglionated co-
lon and the anus is performed (Figure 5). Laparoscopic

Figure 3 Rectal cuff split posteriorly to the level of intended Figure 5 Anastomosis completed with interrupted absorbable
anastomosis. sutures.
Haricharan and Georgeson Hirschsprung Disease
The resected segment of the bowel is sent for patho-
logical review. At our institution, it is regular practice to
obtain a longitudinal “jelly-roll” section of the entire
resected specimen, cut, mount it on a slide, and stain
using H&E and AChE for analysis.70,71 This enables us to
obtain specific measurements of the aganglionated bowel
and ganglionated bowel resected.
Surgical course and hospital stay
Intraoperative complications, including tension at the anas-
tomosis and ischemia of the pull-through segment, occur in
approximately 6% of children.35 Oral diet is started usually
2 days after the procedure and advanced to full-feeds as
tolerated. Total length of stay after a primary pull-through
procedure is typically between 3 and 7 days (mean stay at
our institution is 3.7 days).3,69 Postoperative care at our
institution routinely involves a clinic visit 2-3 weeks after
the initial hospitalization. During these visits, interval his-
tory is obtained and physical examination is performed,
including a digital rectal examination when possible. The
children are followed up every 3-4 weeks until they are 3
months of age and less frequently thereafter for several
years. Routine postoperative home dilatations are not usu-
ally employed.
Postoperative outcomes
Large studies evaluating complications exclusively in chil-
dren who underwent neonatal definitive pull-through proce-
dures are scarce. The complications data are mostly extrap-
olations from studies evaluating definitive repair in infants
and older children with HSCR. The complications after
pull-through can be classified as early (weeks to months)
and late (months to years). The postoperative complications
are listed in Table 4, and a few common complications are
discussed below. There is significant overlap between early
and late complications. Some early complications, including
bowel obstruction, prolonged ileus, and pelvic and wound
infection, may not be unique to Hirschsprung disease.
Anastomotic leak has been reported in 1-10% and cuff
abscess in approximately 5% of children operated for
HSCR.31,72-75 Factors that have been suggested to increase
Table 4 Post-operative complications
Early Late
Anastomotic leak and cuff abscess Bowel obstruction
Bowel obstruction Constipation
Perineal excoriation Enterocolitis
Stomal complications Incontinence
Wound infection Stricture
Wound dehiscence
271
the risk of these complications include tension or ischemia
at the anastomosis, poor nutritional status, steroid usage,
and residual aganglionosis. Suspected leaks are evaluated
by using water-soluble contrast enemas. Management strat-
egies include surgical exploration, diverting colostomy, and
revision of anastomosis.
Bowel obstruction due to adhesions is seen both in the
early and late postoperative period. It occurs in approxi-
mately 7.5-10% of children, and, in the majority of the
patients, it is responsive to bowel decompression without
the necessity of operative repair.75,76 The factors increasing
the risk of adhesions include prior operation and anasto-
motic leak. Some authors have suggested that the laparo-
scopic approach may decrease the incidence of adhesive
bowel obstruction.75
Perineal excoriation is common after definitive repair or
stomal takedown. The severity of the excoriation may be
limited by using barrier creams beginning on postoperative
day 1. The condition usually improves with the resolution of
diarrhea, typically within 2-3 months postoperatively. Stomal
complications include prolapse, stenosis, retraction, parastomal
hernia, and peristomal skin breakdown. However, the inci-
dence and management of these conditions are no different
from the same in the non-HSCR neonate. With the present
trend toward primary repair in neonates,3 the incidence of
stomal complications may further decrease. Wound infec-
tion is noted in nearly 4% and wound dehiscence in 1% of
children.35 Meticulous technique, adequate hemostasis,
good nutrition, and avoidance of ischemia and tension may
help in preventing the wound complications.
HAEC has been a major cause of increased morbidity
and mortality after the definitive pull-through procedure.
Despite the advances in management of children with
HSCR, the pathogenesis of HAEC remains incompletely
understood. It is suggested that obstructive mechanisms
result in intestinal stasis with proliferation of luminal patho-
gens, mucosal invasion by pathogens, and subsequent local
and systemic inflammatory response. The incidence of post-
operative HAEC reported in literature varies from 5% to
42% depending on the definition and method of diagnosing
HAEC.35,62,63,77,78 In a recent retrospective study, it was
shown that the initial admission for HAEC in this series was
unusual beyond 2 years after pull-through.63 Risk factors
suggested for HAEC include younger age at diagnosis,
anastomotic stricture, and malnutrition.35,63 Other research-
ers have suggested that a shorter rectal muscular cuff length
may also decrease the incidence of enterocolitis79 by de-
creasing the constriction. All of these findings further
strengthen the hypothesis that intestinal stasis and immature
mucosal immunity due to younger age may contribute in the
development of enterocolitis. Earlier diagnosis may be a
surrogate marker of increased severity of the disease and
hence a higher risk of enterocolitis. It is widely believed that
longer segments of ganglionated bowel resection may be
required to decrease risk of HAEC. A study designed to
determine the optimal length of resection of ganglionated
272
Table 5 Results of HAEC admissions by length of ganglionated bowel resected63
Overall ⱕ5 cm ganglionated bowel resected
No. of patients 36 18
No. of children with HAEC (%) 13 (36%) 6 (33%)
No. of admissions, mean 0.7 0.6
Days hospitalized, mean 5.7 7.7
bowel margin assessed the influence of length of resection
(ⱕ5 cm versus ⬎5 cm) on hospital admissions due to
HAEC in the first 2 years after endorectal pull-through.63
Subgroup analyses did not show significant differences in
the number of HAEC admissions (Table 5). The authors
concluded that longer length of ganglionated bowel resec-
tion may not necessarily aid in decreasing the number of
admissions for Hirschsprung enterocolitis.
Stricture formation after definitive pull-through proce-
dure is another important complication. The reported inci-
dence of stricture varies widely from 0% to 35%, depending
on the definition.80,81 The risk factors for these strictures
include anastomotic ischemia or dehiscence and circular
anastomosis.80 No particular type of pull-through has been
associated with a significant risk of stricture. However, as
discussed previously, stricture has been consistently associ-
ated with a higher risk of postoperative enterocolitis. Most
strictures can be managed conservatively by adhering to a
strict dilation regimen, and only a few persistent strictures
require a more aggressive operative correction. Techniques
employing oblique anastomosis at the anus may also de-
crease stricture formation.
Stooling frequency is usually high (5 to 10 times per day)
during the immediate postoperative period. This generally
improves with time and, by 6 months to 1 year after surgery,
declines to 1 to 4 times per day.81 Constipation develops
after a few weeks to months after pull-through and depends
on the type of operation, with a higher incidence in opera-
tions with retained aganglionic bowel (eg, Duhamel or Re-
hbein procedure). Constipation is reported in approximately
8% of children,75,80 but the incidence may be underesti-
mated as more than 20% of children are maintained on
stool-softeners after operation.72,82,83 A recently published
study83 reported that nearly 37% children had difficulty in
evacuating stool after operation for HSCR. The “functional”
form of constipation may be managed with conservative
measures, such as laxatives or enemas, or may require a
multidisciplinary biopyschosocial approach.84 However, in
children with persistent constipation as a result of sphincter
achalasia, stricture formation, incomplete resection of the
aganglionic colon, or dysganglionic bowel may require ex-
tensive evaluation with repeat biopsy, CE, and/or ARM.
Management strategy depends on the results of the investi-
gations and includes aggressive dilatations, botox, myec-
tomy, or revision pull-through.81,85
Fecal continence is determined usually in children greater
than 4 years of age. Large series published in the previous
decades on outcomes after pull-through often did not carefully
Seminars in Pediatric Surgery, Vol 17, No 4, November 2008
⬎5 cm ganglionated bowel resected P value
18
7 (39%) 0.99
0.9 0.52
3.8 0.4
assess rates of incontinence or likely underestimated them due
to the retrospective nature of these studies.81,86 In recent years,
lack of fecal continence after pull-through has been reported
between 1% and 39%,35,83,87 and in reality, it may be
expected to be closer to the higher rather than the lower end
of the reported range. Ludman and coworkers86 have shown
that surgeons’ assessment likely underestimates fecal incon-
tinence compared with patients’ experience of incontinence.
Several authors have noted poor continence after pull-
through.83,88 In their landmark study, Catto-Smith and co-
workers83 assessed continence after operation for HSCR in
a cohort of 84 children with a mean age of 12 years. They
noted that fecal urgency was common (58%), with many
unable to hold back stool (29%) or discriminate stool con-
sistency (32%), and loose (liquid or pasty) stool was more
common in children with long-segment disease. Nearly
20% of the children were using continence aids or kept extra
underwear available beyond the toilet-training years. Food
intolerance was common after operation for HSCR, and
44% of the children had modified their diet to prevent loose
stools or constipation. ARM results showed higher baseline
sphincter pressures and marked blunting of the sensation to
rectal distension in all children, with more severe blunting
in the group with significant soiling. The authors, however,
noted that some aspects of continence (urgency, soiling) and
stool consistency improved with age.
Enuresis has been reported in 5-26% of children80,83 and
has been attributed to iatrogenic pelvic nerve injuries or a
neuropathy. The techniques employing laparoscopic-as-
sisted or transanal approach have been designed and mod-
ified to decrease iatrogenic pelvic nerve injuries.
Late mortality has been reported in 0.7-5.0%72,89 of
children undergoing operation for HSCR. Although the ex-
act cause of death in many series is not mentioned, a large
percentage of deaths have been closely associated with
severe enterocolitis. With improvements in the recognition
and treatment, mortality due to HAEC could be minimized.
Stooling issues, including constipation and incontinence,
and enuresis may have the most impact on the postoperative
quality of life (QOL) of the child and the parents.83 A trend
of improvement in these stooling issues as the child gets
older has been noted by several authors.31,76,82,83,88,90 Pres-
ence of long-segment disease has been associated with a
worse QOL.83 In a recent prospective follow-up study, Hart-
man and coworkers90 evaluated global and disease-specific
QOL of children who had undergone operative management
of HSCR. The authors found that fecal incontinence, con-
stipation, and the emotional response to the disease (such as
Haricharan and Georgeson Hirschsprung Disease
feelings of shame) diminished with growing age. Disease-
specific improvement was thought to be due to several
reasons, including development of more muscle control and
the aid of tools (such as diapers, enemas, and dietary ma-
nipulations). They also suggested that children learn to cope
with their disease over the years by developing stronger
psychosocial competency skills. Notwithstanding the im-
provement with time, the goal of the surgeon is to minimize
these complications by providing meticulous operative,
postoperative, and long-term follow-up care.
Conclusions
Improvements in diagnosis of HSCR and critical care of
newborns have enabled surgeons to perform definitive re-
pair at earlier ages than possible in the previous years.
Neonatal primary pull-through procedures have become in-
creasingly popular with reports of good outcomes. Despite
satisfactory outcomes in the majority of the children, a close
and long-term follow-up is recommended for early detec-
tion and management of complications.
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