EHD-04045; No of Pages 6

Early Human Development xxx (2014) xxxxxx

Contents lists available at ScienceDirect

Early Human Development

journal homepage: www.elsevier.com/locate/earlhumdev

Best practice guidelines

Hirschsprung disease and anorectal malformation

Charlotte Wetherill 1, Jonathan Sutcliffe 1
Department of Paediatric Surgery, Leeds General Inrmary, Leeds, UK

a r t i c l e

i n f o

Available online xxxx

Keywords:
Congenital abnormalities
Neonatal intestinal obstruction
Hirschsprung disease
Anorectal malformation

a b s t r a c t
Hirschsprung disease and Anorectal Malformations are congenital disorders presenting in neonates with distal
intestinal obstruction. Hirschsprung disease is associated with a functional distal bowel obstruction resulting
from the abnormal development of the enteric nervous system and ensuing aganglionosis of the distal gut.
Anorectal Malformations comprise a spectrum of anatomical anomalies causing a mechanical bowel obstruction.
Both conditions are frequently associated with congenital abnormalities/syndromes, which require careful assessment and evaluation. Surgical intervention is usually required for both conditions with careful preparation
and meticulous technique. Long-term follow-up allows early identication and treatment of potentially debilitating symptoms, which include faecal incontinence.
2014 Elsevier Ltd. All rights reserved.

Contents
1.
2.

Introduction . . . . . . . . . . . . . . . . . .
Hirschsprung disease . . . . . . . . . . . . . .
2.1.
Denition and pathophysiology . . . . . .
2.2.
Aetiology . . . . . . . . . . . . . . . .
2.3.
Genetics . . . . . . . . . . . . . . . .
2.4.
Presentation . . . . . . . . . . . . . .
2.5.
Initial management . . . . . . . . . . .
2.6.
Diagnosis . . . . . . . . . . . . . . . .
2.7.
Denitive management . . . . . . . . .
2.8.
Outcome analysis . . . . . . . . . . . .
2.9.
Research directions . . . . . . . . . . .
2.10.
Key guidelines for Hirschsprung disease .
3.
Anorectal malformations . . . . . . . . . . . .
3.1.
Introduction . . . . . . . . . . . . . .
3.2.
Classication . . . . . . . . . . . . . .
3.3.
Associated abnormalities . . . . . . . . .
3.4.
Presentation and initial management . . .
3.5.
Denitive surgery . . . . . . . . . . . .
3.6.
Outcome analysis . . . . . . . . . . . .
3.7.
Research directions . . . . . . . . . . .
3.8.
Key guidelines for anorectal malformations
Conict of interest statement . . . . . . . . . . . .
References . . . . . . . . . . . . . . . . . . . . .

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1. Introduction
E-mail addresses: charlotte.vw@hotmail.co.uk (C. Wetherill),
Jonathan.sutcliffe@leedsth.nhs.uk (J. Sutcliffe).
1
Tel.: +441133925831; fax: +44 1133925827.

Hirschsprung disease and Anorectal Malformations are congenital

disorders that require early recognition, meticulous neonatal management and careful follow-up. To avoid lifelong, troublesome functional

http://dx.doi.org/10.1016/j.earlhumdev.2014.09.016
0378-3782/ 2014 Elsevier Ltd. All rights reserved.

Please cite this article as: Wetherill C, Sutcliffe J, Hirschsprung disease and anorectal malformation, Early Hum Dev (2014), http://dx.doi.org/
10.1016/j.earlhumdev.2014.09.016

C. Wetherill, J. Sutcliffe / Early Human Development xxx (2014) xxxxxx

sequelae a well-coordinated multidisciplinary approach is needed from

an early stage. Although Hirschsprung disease is known to be primarily
a physiological defect and Anorectal Malformations are primarily an anatomical anomaly, aetiology remains incompletely understood in each.
Ongoing research has the potential to not only improve clinical management but also advance the understanding of normal development.
Since both conditions are most commonly only identied postnatally, accurate decision-making and parental counselling in the early neonatal period are particularly important. The aim of this article is to
illustrate common presenting features, highlight associated abnormalities and describe the initial management for each condition.
2. Hirschsprung disease
2.1. Denition and pathophysiology
Hirschsprung disease (HD) is a congenital disorder caused by
aganglionosis in an affected segment of the bowel. Ganglion cells act
as relay points within the enteric nervous system, coordinating relaxation. In their absence, the aganglionic zone becomes spastic and symptoms are caused by the ensuing functional distal intestinal obstruction
[1].
The length of the affected segment varies. The most distal point is always down in the rectum, at the dentate line. This conveniently means
that rectal biopsy can conrm or refute the diagnosis without the need
for more invasive biopsies. The proximal extent can vary but lies most
often within the rectum or sigmoid (Classic-segment disease) [2]. In
around 10% of infants a longer segment is affected, most often the
whole colon (Total Colonic Aganglionosis) or at the most severe end
of the spectrum, the entire small bowel. This is an important cause of intestinal failure.
The area between the aganglionic zone and normal bowel is termed
the Transition zone. Here, ganglion cells are present but the nerves of
the enteric nervous system are abnormal and motility is impaired.
Above the Transition zone, the bowel is dilated but histologically normal
(Ganglionic zone). The aim of surgical treatment is to remove the
Aganglionic zone and Transition zone, and restore intestinal continuity
by anastomosing the ganglionic bowel to the rectum.
2.2. Aetiology
HD is the commonest congenital gut motility disorder with an incidence of 1 in 5000 live births. There is a male preponderance in classical
segment HD but conversely, females are more likely to have long segment disease. HD is an isolated phenomenon in approximately 70% of
cases, with 20% of HD being found in conjunction with another congenital anomaly, characterised by abnormalities of the GI tract, cardiac defects, polydactyly or craniofacial malformations such as cleft lip/palate.
The residual 10% comprise syndromic HD, which include the Mowat
Wilson, SmithLemliOpitz and Congenital Central Hypoventilation
syndromes and Multiple Endocrine Neoplasia type 2b (MEN 2b). By
far the most frequent association is with Down syndrome, which is
seen in 90% of syndromic HD. Patients with Down syndrome are estimated to have a 100-fold increase in risk of HD compared with control.
HD is a neurocristopathy, and is therefore also associated with other disorders of neural crest cell migration and differentiation, such as ShahWaardenburg syndrome, characterised by sensorineural hearing loss,
iris and hair hypopigmentation and typical facies.

specic gene mutations have been associated with HD, including

genes in the RET and Endothelin signalling pathways and SOX10. Isolated HD follows a non-mendelian pattern, with the principle genetic defects identied in the RET and Endothelin pathways. Defects in the
RET pathway are the most common and important as they infer the possibility of MEN2b and therefore medullary thyroid carcinoma. Recent
studies have shown associations between RET and chromosome 21
gene dosage, perhaps providing a clue to the increased risk of HD seen
in Down syndrome. Initial studies looking at differing levels of components of the endothelin signally pathways between male and female
mice may also provide a basis for the gender differences. Syndromic
HD manifests a variety of inheritance patterns depending on the syndrome in question, the majority of which demonstrate straightforward
mendelian inheritance. Shah-Waardenburg provides the majority of evidence thus far, via SOX10 mutation analysis and the WS4 mouse model.
Genetic counselling for a sex-modied multifactorial congenital
malformation such as HD is a challenge. The overall risk for a sibling of
an affected child is 4% (relative risk = 200), but this varies enormously
dependant on the gender of the proband and the length of the affected
bowel. The highest recurrence risk is for a male sibling of a female proband with long segment disease (33%), with lowest being for a female
sibling of a male proband with classical HD (1%); this is known as
Carter's Paradox [3].
2.4. Presentation
HD is usually diagnosed postnatally, although there may be generic
features of intestinal obstruction on antenatal imaging such as
polyhydramnios, increased abdominal girth and distended bowel
loops. It is more likely that HD would be suspected antenatally either
because of a family history, or because of indirect antenatal features,
such as those suggestive of Down syndrome.
Neonates commonly present at around 48 h of life with distension,
bilious vomiting and failure to pass meconium. AXR typically demonstrates gaseous distension affecting a number of loops (see Fig. 1a).
A careful antenatal, family history and postnatal assessment should
be taken to help differentiate between the following causes of distal intestinal obstruction in a neonate:

Hirschsprung disease
Meconium ileus/cystic brosis
Meconium plug
Small Left Colon Syndrome (seen in infants of diabetic mothers)
Ileal atresia
Colonic atresia
Missed anorectal malformation
Malrotation with volvulus
Sepsis.

Infants can present later in the neonatal period, or even as older children. A history of constipation from the rst month of life, delayed passage of meconium beyond 24 h, a positive family history of HD or
associated syndromes or failure to thrive with abdominal distension
should alert clinicians to the possibility of HD. Hirschsprung associated
enterocolitis (HAEC) is a particularly important complication. HAEC is
a condition of intestinal inammation, characterised clinically by
fever, abdominal distension, diarrhoea and sepsis [4]. This serious and
potentially fatal complication may be the presenting feature and is
often mistaken for gastroenteritis.

2.3. Genetics
2.5. Initial management
Inheritance patterns in HD are complex and a polygenetic mode of
inheritance exists, with a low sex-dependant penetrance and variable
expressivity [3]. This is manifested clinically by discrepancies between
individuals with known mutations but not expressing the HD phenotype, and the variable length of the affected bowel segment. Several

Once initial stabilisation has been performed, enteral feeding should

be suspended and a nasogastric tube should be passed. Intravenous
uids should be given at maintenance rates with replacement as needed. Broad spectrum intravenous antibiotics are often used at least

Please cite this article as: Wetherill C, Sutcliffe J, Hirschsprung disease and anorectal malformation, Early Hum Dev (2014), http://dx.doi.org/
10.1016/j.earlhumdev.2014.09.016

C. Wetherill, J. Sutcliffe / Early Human Development xxx (2014) xxxxxx

initiated whilst washouts continue. Once full feeds are established, the
frequency of washouts can be reduced to once a day. The infant is
now in a position to allow further investigations to establish a denitive
diagnosis. Parents are trained to perform the washouts safely and
counselled for signs of enterocolitis.
In some cases, and particularly in long segment HD, decompression
by rectal washout is unsuccessful, and the infant must be reassessed
and potentially taken to theatre for formation of a temporary stoma.
Contrast enema studies retain a role in many centres in the investigation of distal intestinal obstruction. They can usually, but not always,
indicate the position of the Transition Zone in HD. This in turn may be
useful for surgical planning and counselling parents. If a Classic segment
is present, a calibre change is usually seen in the recto-sigmoid region,
with the rectum being less distended than the bowel just above the
Transition zone (see Fig. 1b). Risks of contrast studies include perforation, sepsis and inaccurate identication of Transition zone (long segment disease is frequently missed).
2.6. Diagnosis
The gold standard investigation for the diagnosis of HD is histopathological [5]. Once full decompression has been achieved with washouts,
a suction rectal biopsy can be performed on the ward without a general
anaesthetic. This provides 2 to 3 specimens from above the dentate line.
Aganglionosis is pathognomonic for HD. Supplementary staining techniques using acetyl cholinesterase (AchE) demonstrate hypertrophied
(more than 40 m) nerve cells. Washouts are recommenced 24 h post
biopsy.
Pre-term infants have immature enteric nervous systems and therefore biopsy results can be misleading. Small babies are also more at risk
of perforation and sepsis following rectal biopsy; therefore it is advisable to wait until the infant has reached around 37 weeks corrected gestational age before undertaking a suction rectal biopsy.
2.7. Denitive management

Fig. 1. a. Supine abdominal radiograph on day 1 of life showing multiple loops of bowel
with signicant dilatation and a paucity of air in the pelvis in keeping with distal intestinal
obstruction. b. Single image taken from a series during a contrast enema study, demonstrating spastic, aganglionic distal bowel, with dilated normal bowel proximally, in keeping with classic short segment HD. TZ = Transition Zone

initially to reduce the chance of translocation until the child is

decompressed.
Decompression is usually achievable with rectal washouts, using a
soft rectal irrigation catheter (2024Fr). The technique involves placing
the catheter 2030 cm into the anus, followed by irrigation with aliquots of 3050 ml warm saline.
Effective washouts allow time for a diagnosis to be made and allow
the child to feed enterally. Typically, washouts might be required 23
times per day until full decompression has occurred; this usually takes
23 days. Once abdominal decompression is achieved, feeding can be

In a stable infant with newly diagnosed HD, the initial aim is to establish a good rectal washout technique that parents can perform at
home. This enables the child to grow until the optimal time for admission for the denitive pull-through procedure. The timing of this varies
between centres, but in general, is undertaken within the rst few
weeks of life.
Denitive surgery for HD takes the form of a pull-through procedure in which the more proximal, ganglionic bowel is brought down
to the anus and anastomosed. Three main procedures exist for HD:
Duhamel, Soave and Swenson procedures. Features common to all
three procedures include the use of histological analysis (usually ontable frozen section) to identify the ganglionic bowel, resection of
Aganglionic and Transition zone bowel and preservation of the anal
continence mechanism.
The Duhamel pull-through is characterised by a retro-rectal dissection through which the ganglionic bowel is delivered and anastomosed
to the posterior rectal wall. A stapling device is then used to create a unied pouch between the pull-through segment and the native rectum.
The native rectum is transected just above this staple line allowing removal of the upper rectum and any aganglionic or Transition zone proximal to this. The residual distal native rectum therefore contributes to
the pouch and since this is aganglionic, constipation is more often
seen after a Duhamel than with other procedures [6].
Soave and Swenson procedures are both now undertaken
transanally with the resection starting at a point just above the dentate
line and extending around the entire circumference of the rectum. The
Soave procedure involves an endorectal dissection, initially a submucosal dissection, deepening to include the muscular layers after a few
centimetres. The purported benets are to remain inside the rectal
wall thereby reducing damage to the sacral plexus. This however is at

Please cite this article as: Wetherill C, Sutcliffe J, Hirschsprung disease and anorectal malformation, Early Hum Dev (2014), http://dx.doi.org/
10.1016/j.earlhumdev.2014.09.016

C. Wetherill, J. Sutcliffe / Early Human Development xxx (2014) xxxxxx

the expense of retaining a cuff of aganglionic bowel wall, which has the
potential to cause obstructive features. The Swenson procedure, again
transanal, begins just above the dentate line and is circumferential,
but extends through the rectal wall so ensuring the entire aganglionic
proximal bowel is removed. Whilst the sacral plexus is potentially exposed, proponents of this increasingly popular technique claim that
careful adherence to the wall of the bowel reduces the risk of nerve injury. One nal consideration with these two transanal procedures is the
potential effect on the continence mechanism by undue retraction on
the sphincters during the course of dissection.
Controversy exists with respect to the need for laparoscopy or laparotomy to facilitate a pull-through. For classic segment disease, it is certainly possible for either Soave or Swenson to be performed entirely
transanally without mobilisation from above, although the risk of a
twist in the pull-though is increased.
The ability to biopsy tissue adequately is a further consideration. In
order to fully exclude an inadvertent pull-though of transition zone tissue, a pathologist would ideally receive full thickness biopsies from all 4
quadrants of the circumference of the section of bowel, for on-table frozen section prior to pull-through. Currently many centres use tissue
from only 1 quadrant as a proxy for histological adequacy. Finally, our
understanding of the nature of the Transition zone is incomplete; currently the presence of hypertrophied nerves in the submucosa is used
as a marker for function [7], but it seems likely that this denition will
be further developed.
2.8. Outcome analysis
In order to inform decision-making and resolve current controversies, long-term outcome evaluation is required [8]. One systematic review has used a validated bowel function score to compare young
adults who were operated on for HD as infants with normal controls.
Overall the results show that 47% of HD patients had a normal bowel
function score. Faecal soiling was the most common GI symptom, experienced by 48%, with difculty holding back defecation (40%), constipation (30%) and social problems related to bowel function (29%). 14% of
HD patients experienced frank faecal accidents, compared to 0% of the
control population [9].
These data were derived from a group with great experience in longterm outcome evaluation. As with other congenital conditions welldesigned, long-term studies using validated outcome measures are
required but difcult to obtain for any single centre, for a number of
reasons. Many of the functional outcomes, such as continence, constipation, enterocolitis and sexual function are difcult to quantify. Furthermore, HD is relatively rare and any one centre will have a limited
number of patients. Operative procedures evolve with time, as will
non-operative management. Comparison of outcome with historical patients from the same centre is therefore awed, and comparison between centres is also limited for similar reasons. This must be the
focus of consideration to allow a sound platform for future work.
2.9. Research directions
Pathophysiology does the Transition zone, currently dened histologically correlate precisely with the functional Transition zone? Do
other cell groups have a role in spasticity?
Diagnosis current diagnosis relies on an absence of ganglion cells. A
reliable test using a positive marker would facilitate histopathological
practice.
Treatment can progenitor cells be induced to usefully repopulate
the ENS?
Outcome analysis long-term outcome is even more important to
focus on in rare conditions with subjective symptoms for patients
who may go on to live for several decades, thus spanning individual
clinicians' careers. Knowing which symptoms to address informs the
development of new techniques.

2.10. Key guidelines for Hirschsprung disease

Diagnosis differentiation of neonates with HD from those with
other causes of distal obstruction requires careful consideration.
Initial treatment effective and safe washouts avoid further distension, enterocolitis and an unnecessary stoma.
Surgical correction a number of variations in surgical technique
exist. If outcomes are acceptable, so are the variations.
Outcomes a mechanism for long-term follow-up is essential.
3. Anorectal malformations
3.1. Introduction
Anorectal Malformation (ARM) is a congenital abnormality in which
the hindgut fails to open in the correct position on the perineum, or does
so with an inadequate calibre. They are present around 1 in 5000 live
births and are often associated with other congenital anomalies. As
with HD, antenatal diagnosis is uncommon, although cloacae, the
most severe end of the spectrum, are sometimes identied. More commonly, an associated condition is identied in conjunction with nonspecic GI ndings raising suspicion.
The prompt, accurate diagnosis of ARM allows surgical planning, accurate counselling of the family and optimal management in the early
neonatal period. Denitive surgery is focused on the restoration of anatomy, with the ultimate aim of providing denitive reconstruction,
whilst limiting long-term morbidity.
3.2. Classication
ARMs constitute a spectrum of abnormalities in both males and females but are broadly grouped into High and Low abnormalities. A
key consideration is the position of the opening of the hindgut, usually
termed the stula. For some patients, the stula clearly opens onto the
perineal surface. The opening itself may be anterior to its normal position, or be stenotic, thus requiring surgical correction. These patients
may be repaired in the neonatal period without stoma coverage and
are termed Low malformations.
In other patients, the stula cannot be visualised and the anatomy is
effectively unknown in the neonatal period. For males, a stula may
open into the urethra or bladder neck. Occasionally in pure rectal atresia, a stula may not be present but the terminal portion of the hindgut
still abuts the urinary tract. In females, the most severe variant is the cloaca. These infants have a single perineal orice, which represents a common channel for the hindgut and reproductive and urinary tracts
combined. The length of the common channel is associated with the severity of the abnormality, with a long common channel being associated
with a more severe defect.
Overall, this group is classied as High abnormalities. Since blind
exploration without an adequate evaluation of anatomy is hazardous
and associated with an increased risk of injury to the urethra, these
patients require a stoma in the neonatal period to allow further
investigation.
For girls, stulae can enter the perineum at the posterior fourchette
or within the introitus itself (rectovestibular stula) are amenable for
either a neonatal repair, or formation of a stoma to allow a delayed repair. Either approach is acceptable or clearly the recommendation of
the surgeon should be based on what would be most likely to achieve
the best outcome.
3.3. Associated abnormalities
ARMs are commonly associated with defects in a number of other
systems. The abbreviation VACTERL describes the most commonly
found associated defects (vertebral, anorectal, cardiac, tracheo-

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C. Wetherill, J. Sutcliffe / Early Human Development xxx (2014) xxxxxx

oesphageal, renal, limb). The higher the defect, the more likely that associated abnormalities will be found.
Vertebral abnormalities include sacral hypoplasia, hemivertebrae
and tethered cord. The presence and degree of sacral hypoplasia or spinal cord anomaly correlate with prognosis. Plain radiographs and spinal
cord ultrasound in the neonatal period therefore provide useful information and are recommended. It should be noted that the window for
USS to visualise the spinal cord is limited and this investigation should
be requested within the rst month or so of life.
Cardiac echo is required to evaluate the heart. Structural cardiac
anomalies may be severe and careful coordination of treatment may
be required.
Oesophageal atresia may be excluded with the placement of a nasogastric tube. Occasionally an H-type tracheo-oesophageal stula is
suspected, warranting further investigation.
Renal tract abnormalities may be seen. Whilst a broad range of
anomalies have been described, the passage of at least some urine in
the neonatal period excludes the rare but catastrophic diagnosis of bilateral renal agenesis. Vesico-ureteric reux is common and is the basis for
many centres recommending prophylactic long-term trimethoprim administration. Renal tract USS in the neonatal period with subsequent
MCUG is usually indicated for patients with ARM.
Limb defects include radial aplasia and polydactyly, but may be more
subtle. Recognisable genetic defects, such as TownesBrocks syndrome
are less common but are the focus of ongoing investigation.
Gynaecological abnormalities such as vaginal septae or even vaginal
aplasia are seen in girls with cloacal defects and are increasingly
recognised in association with less severe anomalies [10]. Finally, the association with low anorectal anomalies, particularly rectal stenosis, with
sacral abnormalities and presacral masses (Currarino triad) has been
described [11]. Investigation with MRI for a presacral mass must be considered in patients with rectal stenosis.

3.4. Presentation and initial management

ARM may be suspected antenatally. Usually this is due to the presence of sacral anomalies. Cloacal malformations are frequently associated with renal and genitourinary tract abnormalities and are more likely
to be picked up antenatally than other ARMs.
ARMs are usually clinically obvious at neonatal examination; however, there are some pitfalls to be avoided. The presence of meconium
on the perineum may have been passed through a stula and should
not be interpreted as the child possessing a normally sited, patent
anus. Meconium should be thoroughly cleaned away to enable adequate
examination of the perineum. Although much less common, rectal atresia or stenosis will demonstrate a normal looking anus. A recent series
demonstrated that up to 50% of ARMs are missed at the neonatal examination [12]. A feeding tube or rectal catheter can be passed to assess
anal and rectal luminal patency and anal calibration with Hegar's dilators can be performed to exclude stenosis.
Clinical assessment alone will allow differentiation between high
and low anomalies in 95% of patients. Imaging in the form of a lateral
shoot through in a prone position may provide further information as
to the distance of the hindgut from the perineal oor, and this investigation should be undertaken at around 24 h of life once sufcient gas has
reached the distal bowel. The presence of meconium in the urine would
conrm the presence of a stula into the urinary tract, although it
should be noted that this also commonly takes around 24 h.
Once a neonate has been fully resuscitated, assessed for associated
abnormalities and deemed to have a low or high abnormality, surgical
planning and counselling of the family can take place. Since ARMs are
often a postnatal diagnosis, the presence of one, or often several congenital abnormalities is overwhelming for most parents and discussion
must be undertaken with due care. Neonates with Low ARMs may be
considered for primary surgical repair, and those with High ARMs

undergo formation of a stoma and a divided descending colostomy is

recommended.

3.5. Denitive surgery

Contrast is instilled through the mucous stula to delineate the anatomy of a high ARM (see Fig. 2). This demonstrates the position of the stula in relation to the urethra and the sacrum to allow surgical planning.
The aim of repair for ARM is to obtain adequate exposure to allow
careful dissection of the stula from the urethra and placement within
the sphincteric mechanism, but with minimal risk of additional injury
caused by the dissection. Since the innervation to the pelvic oor and
the subtending musculature are paired, an approach through the midline will reduce the chance of transection of either nerves or muscle.
This approach, the PSARP (posterior sagittal anorectoplasty), was rst
described by Pea and Devries in 1982, [13] and is now the standard.
A key step in the PSARP is the dissection of the stula. The stula is
frequently fused to associated structures (for example urethra or vagina) and no true surgical plain exists. This common wall necessitates meticulous surgical dissection. Accurate placement of the hindgut into the
sphincteric mechanism is then facilitated by the use of a muscle stimulator. Laparoscopy may be a further adjunct to dissection for selected
high defects (for example recto-bladder neck and some recto-prostatic
stulas), which are better approached through the peritoneal cavity.
However, the size of the residual cuff of the hindgut left on the urinary
tract must be minimal to avoid potentially serious long-term
complications.
Cloacae require particular consideration. Repair may be challenging
and requires careful consideration of urogenital structures and the GI
tract. Associated abnormalities are common and the condition itself is
rare. Long-term morbidity is likely and optimal outcome may best be
achieved with a multi-disciplinary team including paediatric surgeons
and urologists, paediatric gynaecologists, specialist nurses and clinical
psychologists.
Following PSARP, dilatations are commenced on a daily basis in most
centres, with the intention of preventing cicatrisation and stenosis. Closure of the covering stoma can be then performed and dilatations reduced and stopped.

Fig. 2. Single image taken from a series during a contrast study of the distal bowel. After
cannulating the mucous stula in a patient with a split descending colostomy for ARM,
contrast lls the bowel and then begins to ll the bladder demonstrating a stula from
the bowel to the bulbar urethra (arrow).

Please cite this article as: Wetherill C, Sutcliffe J, Hirschsprung disease and anorectal malformation, Early Hum Dev (2014), http://dx.doi.org/
10.1016/j.earlhumdev.2014.09.016

C. Wetherill, J. Sutcliffe / Early Human Development xxx (2014) xxxxxx

3.6. Outcome analysis

Conict of interest statement

The same considerations in terms of outcome analysis exist for ARM

as for HD (see above). Functional outcome is difcult to measure and requires detailed follow-up lasting decades but is vital to inform future
development [14]. Long-term follow-up is also important for optimal
outcome. Although problems with incontinence (typically for high defects) or constipation (typically for low defects) are relatively common
these symptoms can largely be controlled. One aim of management is to
allow a child to start school and be clean, with the minimum of difculty
for either the child or their family.

J R Sutcliffe was paid a consulting fee by Norgine during 20132014

for providing advice on a research project addressing the treatment of
faecal incontinence.
C Wetherill declares no conicts of interests arising from this article.

3.7. Research directions

Normal and abnormal development what goes wrong? Why do we
see a spectrum?
Enhancement of sphincteric activity can mechanical or pharmacological approaches be used to augment sphincter function?
Motility if we could better understand the mechanisms of control of
motility, we could better control the symptoms.
Outcome analysis the same considerations apply as for the followup of Hirschsprung disease (see above).
3.8. Key guidelines for anorectal malformations
Diagnosis newborns with ARM are easily missed,particularly if meconium has passed through a stulaobstructing the view.
Evaluation all units must have an efcient process to investigate for
VACTERL abnormalities. This is worthy of a guideline itself.
Surgical correction denitive surgery should be undertaken by a clinician only when the anatomy is appreciated adequately.
Outcomes a mechanism for long-term follow-up is essential.

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Please cite this article as: Wetherill C, Sutcliffe J, Hirschsprung disease and anorectal malformation, Early Hum Dev (2014), http://dx.doi.org/
10.1016/j.earlhumdev.2014.09.016