ANORECTAL MALFORMATION

Background
Anorectal malformations include a wide spectrum of defects in the development of
the lowest portion of the intestinal and urogenital tracts. Many children with these
malformations are said to have an imperforate anus because they have no opening where the
anus should be. Although the term may accurately describe a child's outward appearance, it
often belies the true complexity of the malformation beneath. When a malformation of the
anus is present, the muscles and nerves associated with the anus often have a similar degree
of malformation. The spine and urogenital tract may also be involved.
The position and nature of these malformations made repair difficult for early
surgeons. The affected organs are located deep in the pelvis and are not well visualized
through abdominal incisions. Traditional surgical dictum did not allow for division of the
posterior midline because this division of the muscle was believed, somewhat erroneously, to
cause incontinence in the child. Therefore, surgeons approached these malformations using a
combined abdominal, sacral, and perineal approach, with limited visibility. Such approaches
have put continence, and surrounding genitourinary structures, at greater risk than simply
cutting sphincter muscles because of the difficulty of adequately visualizing the malformation
through limited incisions. This principle was central to the development of the surgical
techniques currently used to repair these malformations.
In 1982, Pea et al reported the results of the use of a posterior sagittal surgical repair
approach. [1] Pea et al used the traditional approach with a sacral incision and made the
incisions progressively larger in an attempt to adequately visualize the anatomy. Eventually,
the entire posterior sagittal plane was opened, affording a full view of the complete
malformation. This technique, referred to as posterior sagittal anorectoplasty (PSARP) or
posterior sagittal anorectovaginourethroplasty (PSARVUP), has led to a more complete
understanding of the anatomy of these children and of what is required to repair the
malformations with optimal results.
After reconstructive surgery for the malformation, many children still experience
effects in the form of urinary or fecal incontinence. Despite optimal surgical management, no
adequate repair for poorly developed muscles or nerves has been developed. Bowel-
management regimens can provide an excellent quality of life for these children when
primary continence is not achievable.
Pathophysiology
The embryogenesis of these malformations remains unclear. The rectum and anus are
believed to develop from the dorsal potion of the hindgut or cloacal cavity when lateral
ingrowth of the mesenchyme forms the urorectal septum in the midline. This septum
separates the rectum and anal canal dorsally from the bladder and urethra. The cloacal duct is
a small communication between the 2 portions of the hindgut. Downgrowth of the urorectal
septum is believed to close this duct by 7 weeks' gestation. During this time, the ventral
urogenital portion acquires an external opening; the dorsal anal membrane opens later. The
anus develops by a fusion of the anal tubercles and an external invagination, known as the
proctodeum, which deepens toward the rectum but is separated from it by the anal membrane.
This separating membrane should disintegrate at 8 weeks' gestation.
Interference with anorectal structure development at varying stages leads to various
anomalies, ranging from anal stenosis, incomplete rupture of the anal membrane, or anal
agenesis to complete failure of the upper portion of the cloaca to descend and failure of the
proctodeum to invaginate. Continued communication between the urogenital tract and rectal
portions of the cloacal plate causes rectourethral fistulas or rectovestibular fistulas.
The external anal sphincter, derived from exterior mesoderm, is usually present but has
varying degrees of formation, ranging from robust muscle (perineal or vestibular fistula) to
virtually no muscle (complex longcommon-channel cloaca, prostatic or bladder-neck
fistula).

Epidemiology
Frequency

United States
Anorectal malformations occur in approximately 1 newborn per 5000 live births.

Mortality/Morbidity

Anorectal and urogenital malformations are rarely fatal, although some associated anomalies
(cardiac, renal) can be life threatening. Intestinal perforation or postoperative septic
complications in a newborn with imperforate anus can result in mortality or severe
morbidity. [2]
Morbidity generally arises from the following 2 sources:
 Malformation-related morbidity
o Malformation-related morbidity relates to associated malformations of rectal
motility, anorectal innervation, and sphincteric musculature. The most common
morbidity in this category is constipation. Most children have mild malformations
that commonly result in constipation for reasons that remain unclear. If left
untreated, chronic constipation results in rectal dilation, which worsens the
constipation. This becomes a vicious cycle, which, if untreated, results in fecal
impaction and overflow pseudoincontinence, also known as encopresis.
o The most severe forms of malformation-associated morbidity are fecal and
urinary incontinence. Higher malformations, such as longcommon-channel
cloacae and prostatic or bladder-neck fistulas, are associated with poorer nerve
and muscle formation, all of which increase the likelihood of fecal or urinary
incontinence. Malformations that directly involve urinary sphincteric mechanisms,
and, specifically, any malformation in which the rectum or vagina joins the
urinary tract at the bladder neck, often results in either urinary incontinence or
inability to completely void.
Surgery-related morbidity
o This can include standard complications such as line infections
and pneumonia.
o Wound infections or anastomotic breakdowns can occur in any intestinal
surgery.
o Children with imperforate anus are at greater risk for injury to surrounding
pelvic organs because these organs (such as vagina or urethra and seminal
vesicles) are located immediately adjacent to the rectum, and may also be
involved in the malformation in some unsuspected way.
o During blind exploration in the pelvis, a dilated ureter can be mistaken for the
rectum. Urethras can be opened or transected, and prostates or seminal vesicals
can be easily injured. Dissection of these delicate structures can result in ischemia
and possible stricture or complete stenosis.

Race

No known racial predilection has been reported.

Sex
No known sex predilection has been reported.

Age

Most children with an anorectal malformation are identified upon routine newborn
physical examination. Delayed presentation is often the result of incomplete initial
examination. Newborn anorectal and urogenital examination can be technically challenging
and makes many practitioners uncomfortable.
Subtle malformations, such as those in some children with perineal fistula that may
look normal to the casual glance, may present months or years after birth when the child
presents to a primary care provider for constipation or urinary tract infection and appears to
have a small perineal body upon physical examination.
Anorectal malformations in females with a normal-appearing anus who have absent
vagina or persistent urogenital sinus may go undiagnosed for years because of examiner
reluctance to separate the labia during physical examination. These malformations can be
discovered upon evaluation for urinary tract infection or primary amenorrhea.

History

Prenatal ultrasonography examination findings are often normal, although

the polyhydramnios or intraabdominal cysts may suggest imperforate anus with associated
hydrocolpos or hydronephrosis.

Newborns with imperforate anus are usually identified upon the first physical
examination. Malformations in newborns that are missed upon initial examination are often
discovered within 24 hours when the newborn is observed to have distention and has failed to
pass meconium and a more thorough examination is performed.

Physical

During a thorough physical examination, attention should be focused on the abdomen,

genitals, rectum, and lower spine. The umbilicus should be examined for the absence of an
umbilical artery (2-vessel cord), which may suggest an absent kidney. The abdomen should
be palpated for masses, which may include a dilated kidney, bladder, hydrocolpos, ectopic
kidney, duplication, or other cystic structure.
 In males, the testicles must be palpated in the scrotum. The perineum is then
examined. Perineal fistulas are diagnosed upon discovery of openings on the perineum,
meconium or mucus in a small strip running up into the scrotal median raphe, a perineal
groove, or a bucket-handle malformation in the anal dimple skin. If no opening is present,
urine is obtained for study, and the child is observed for 24 hours.

In females, a perineal fistula can be directly identified as a small opening on the perineum. If
none is present, the labia are separated to search for a vestibular fistula. A fourchette fistula is
a type of vestibular fistula that straddles the spectrum of malformation between perineal and
vestibular; it is characterized by wet mucosa of the vestibule anteriorly and a dry anoderm
posteriorly at the junction of the vestibule and perineum (see the image below).

Fourchette fistula. This malformation is somewhere halfway between perineal fistula and
vestibular fistula. The fistula has a wet vestibular mucosal lining on its anterior half, but the
posterior half is dry perineal skin.

If no fistula is visible and only one opening between shortened labia is observed, the
child has a cloaca (see image below).
 Cloaca. This is the classic appearance of a girl
with a cloacal malformation with a single perineal orifice. The genitals appear quite short, which is a
finding consistent with cloaca.

If the child has a normal urethra and no vestibular fistula, she may have imperforate
anus without fistula. If she appears to have trisomy 21, the likelihood increases that she does
not have a fistula. Girls with normal urethra and no visible fistula are observed for 24 hours
to allow a perineal fistula to present before operation is required. This waiting period is
beneficial in differentiating between children with perineal fistula who may be effectively
treated using only a minimal anoplasty from those who require colostomy with further
evaluation using distal colostography. Examples of colostography findings are shown in the
images below.
Distal colostogram, posteroanterior view. The initial phase of augmented-pressure distal
colostography aims to determine where the colostomy was placed in the colon and how much colon is
available for pull-through, without taking down the colostomy.

Distal colostogram, lateral view. This image shows the second phase of distal colostography, in which
the patient is placed in the lateral position. A radio-opaque marker is clearly visible in the lower right
side of the image, marking the muscle complex on the skin. This image shows that the rectal pouch
joins the urinary tract at the level of the bulbar urethra, a relatively common malformation in boys.
 The remainder of physical examination is focused associated malformations.
Cardiovascular malformations occur in 12-22% of patients. The most common lesions
are tetralogy of Fallot and ventricular septal defects. Transposition of the great
arteries and hypoplastic left heart syndrome have been reported but are rare.

Many GI malformations have been described in association with imperforate anus. As

many as 10% of patients have tracheoesophageal abnormalities. [4] Duodenal obstruction due
to annular pancreas or duodenal atresia occurs in a small percentage of patients. Malrotation
with Ladd bands that causes obstruction has also been described. Hirschsprung disease has
been well described in association with imperforate anus, although the incidence of this
combined condition is unknown. Constipation is common.

The association of imperforate anus and vertebral anomalies has been recognized for many
years. Patients with high lesions have an increased risk of this association. Lumbosacral
anomalies predominate and occur in approximately one third of patients with imperforate
anus.

The frequency of spinal dysraphism (evaluated with ultrasonography or MRI) had

been thought to increase with the severity of the lesion, with higher malformations having
greater frequency than lower malformations. Several studies have disputed this and have even
shown higher incidence of spinal malformations in children with low malformations. The
most common type of dysraphism is tethered spinal cord, which is present in as many as 35%
of patients. The normal spinal cord terminates between the first and second lumbar vertebral
bodies. In patients with a tethered spinal cord, the cord ends lower in the lumbar spine. Cord
lipomas and syringohydromyelia are also common. All lumbosacral spinal malformations
negatively affect the child's prognosis with respect to urinary and fecal incontinence.

Currarino described a triad of sacral defect, presacral mass, and imperforate anus.
[6]
All patients with an anorectal malformation must be screened for these vertebral
abnormalities in the newborn period using sacral radiography and lumbosacral spinal
ultrasonography. As many as one half of patients with anorectal malformations have urologic
abnormalities. Urinary anomalies are more common in patients with more complex lesions.
Improved imaging studies have provided the ability to document an increased range of
abnormalities. Mild hydronephrosis is the most common abnormal ultrasonography finding.
Vesicoureteric reflux is also a frequent finding, followed by renal agenesis and
dysplasia. Cryptorchidism reportedly occurs in 3-19% of males.

Vaginal and uterine abnormalities are common. Bicornate uterus and uterus didelphys occur
in 35% of female patients with imperforate anus. A vaginal septum is the most common
vaginal abnormality and is seen in as many as one half of girls born with a cloacal
malformation. Vaginal duplication and agenesis have also been reported. Vaginal agenesis
may be associated with ipsilateral absent ovary and kidney.

Causes

Although the precise embryologic defect that causes anorectal malformations has not
been determined, cloacal membrane formation and subsequent breakdown into urogenital and
anal openings should occur by 8 weeks' gestation. Defects in the formation or shape of the
posterior urorectal septum account for many of the described abnormalities of imperforate
anus. Mllerian ducts appear after this critical period; how they are incorporated into this
development is unclear.

No known risk factors predispose a person to have a child with imperforate anus,
which should be clearly emphasized to parents of affected children who may harbor feelings
of guilt. A genetic linkage is sometimes present. Most cases of imperforate anus are sporadic
without a family history of the condition, but some families have several children with
malformations. Genetic studies are ongoing.

Laboratory Studies
CBC count, blood typing and screening, and serum electrolyte levels should be
measured in all children with imperforate anus who require operation. Urinalysis should be
performed to determine the presence of a rectourinary fistula in all cases in which the
diagnosis cannot be made based solely on the physical examination findings. If a child has a
perineal fistula, vestibular fistula, or a single perineal orifice, urinalysis is unnecessary.
Urinalysis is required in all other affected children.
Imaging Studies
Imaging studies used in this condition include the following:
Sacral radiography: Two views of the sacrum, posteroanterior and lateral, should be
obtained to measure sacral ratios and to look for sacral defects, hemivertebrae, and
presacral masses. This should be performed before surgery.
Abdominal ultrasonography: This study is specifically used to examine the
genitourinary tract and to look for any other masses. Hydronephrosis, hydrocolpos,
presacral mass, abdominal mass, or any similar finding can profoundly affect
management. This study should be performed before surgery and must be repeated after
72 hours because early ultrasonography findings may be insufficient to rule out
hydronephrosis due to vesicoureteral reflux.
Spinal ultrasonography or MRI: All children with any form of anorectal
malformation, even those considered minor, should undergo screening for spinal
malformations. These lesions can be diagnosed using ultrasonography prior to the
ossification of the spine. Ultrasonography should be performed as early as possible but
is not essential prior to a newborn surgical procedure. Due to ossification, the use of
ultrasound diminishes after 3-4 months of age, and by 6 months MRI is usually
necessary. MRI may be required any time an ultrasound is suggestive or nondiagnostic.
Lateral pelvic radiography at 24 hours: Children who could not be diagnosed based
solely on physical examination findings, traditionally underwent invertography, which
consisted of holding the baby upside down and using lateral radiography to observe the
level of gas in the distal rectum. A similar, but more humane, approach is to wait 24
hours after birth to observe for possible maximal pelvic pouch distension and then to
use cross-table lateral pelvic radiography with a radio-opaque marker on the anal
dimple with the child in the prone position and the hips slightly raised. If the pouch is
observed within 1 cm of the marker, some surgeons offer primary repair without
colostomy. For pouches farther than 1 cm, colostomy is performed. This 1-cm guideline
has been validated only using radiographic measurements and is not directly
translatable for measurements made using ultrasonography. Currently, perineal
ultrasonography has no role in diagnosis.
Augmented-pressure distal colostography: This is the single most important
diagnostic test used to clarify the anatomy in all children with malformations who
require colostomy. It is personally performed by the colorectal surgeon in many centers.
 In a fluoroscopy suite, a balloon catheter is placed into the distal stoma, and the balloon
is inflated. The catheter is pulled back, and water-soluble contrast is injected by hand.
This pressure is required to overcome the pressure of the levator muscles and to allow
the contrast to flow into the lowest part of the colon and reveal any fistula. In patients
with a fistula to the urinary tract, the bladder often fills, and the study is continued to
obtain as much information as is provided with voiding cystourethrography. If no fistula
is present, the distal pouch has a rounded appearance, and no urinary extravasation is
visible.
Voiding cystourethrography or micturating cystourethrography: These studies are not
necessary if comprehensive distal colostography is performed. They are not
recommended for primary evaluation of children with anorectal malformations because
of poor sensitivity compared with that of distal colostography.
MRI: All children who have sacral defects on plain radiographs should undergo spine
ultrasonography to rule out associated malformations, such as meningocele or
meningomyelocele, teratoma, or mixed lesions. If ultrasonography findings are
suggestive or nondiagnostic, MRI should be performed. All children who have
suggestion of tethered cord on ultrasound, a nondiagnostic ultrasound, or have not had
an ultrasound and are older than 6 months should undergo MRI.
CT scanning: CT scanning presently plays no role in the routine evaluation of children
with anorectal malformations.

Other Tests
Although anorectal manometry has no role in the newborn period, it may be used in
older children who suffer from varying degrees of incontinence. However, the findings are
primarily of academic interest.

Staging
Imperforate anus was historically classified based on the position of the distal-most
aspect of the colon in relation to the levator ani muscles. Malformations at or above the
levator muscle complex were defined as high anomalies. Infralevator lesions were termed
low and were considered simpler and were associated with better prognosis. This system was
based on the now obsolete Wingspread classification.
Information obtained from the posterior sagittal approach has led to an anatomic
classification that lists malformations based on their specific anatomy. The following is a list
of the most common malformations:
Perineal fistula
o This malformation is associated with good prognosis, occurs in either sex, and
involves a closed anus with a small connection opening on the perineal body.
o Some babies with this malformation have a small loop of skin at the anal
opening that resembles a bucket-handle. This is pathognomonic for perineal
fistula.
o Some boys may have no visible perineal opening but may accumulate mucous
or meconium in the fistula, which can extend up the median raphe of the scrotum
and resembles a black cord (meconium) or a string of pearls (mucous).
o This malformation is amenable to primary neonatal pull-through.
o Healthy girls who have normal-sized anal openings and small-appearing
perineal bodies do not have perineal fistula. This is easily determined by
measuring the size of the anus using Hegar dilators. The anus of an average-term
newborn should be approximately 12 mm but varies with the size of the child. The
"correct" size of the perineum is largely a matter of experience.
Vestibular fistula
o This malformation is associated with good prognosis and is easily diagnosed
upon physical examination based on the appearance of a small opening at the
posterior aspect of the vestibule. The opening is external to the hymen and is,
therefore, not vaginal.
o The term vaginal fistula was commonly and incorrectly used to describe
vestibular fistula. True solitary congenital rectovaginal fistula is exceedingly rare.
o Vestibular fistula is safely treated with diverting colostomy, although some
pediatric colorectal surgeons repair this malformation primarily in the newborn
period without using colostomy.
Cloaca
o Persistent cloaca is a malformation in females that encompasses a spectrum of
defects, including the presence of a common channel that incorporates the urethra,
vagina, and rectum.
 o The length of the common channel correlates with complexity and prognosis.
Shorter channels (< 3 cm) have fewer associated malformations and carry a better
prognosis. Longer channels have more complex malformations and poorer
prognosis.
o One half of all girls with this malformation have 2 hemivaginas and many
have hydrocolpos.
o This malformation is easily diagnosed upon physical examination based on the
presence of a solitary perineal orifice. Females with this malformation often have
very small-appearing labia.
o All children with cloacae should undergo colostomy shortly after birth.
Bulbar urethral fistula
o This malformation observed in boys is relatively common.
o No fistula is observed upon physical examination, and urinalysis often shows
meconium.
o Colostomy is essential to relieve obstruction, prevent urinary soiling, and to
allow for distal colostography, which clarifies the malformation for definitive
surgical repair.
Prostatic urethral fistula
o This malformation observed in boys is rarer than bulbar fistula and carries a
poorer prognosis.
o The diagnosis and treatment algorithm are identical to those of bulbar fistula,
although the surgical procedures used differ.
Bladder-neck fistula
o This rare malformation observed in males (10% of all malformations in males)
carries a very poor prognosis.
o Most patients with bladder-neck fistula require bowel-management regimens.
o The diagnosis and treatment algorithm are identical to those of bulbar and
prostatic fistulas, although the surgical procedures used differ.
o This fistula is best approached abdominally.
Absent fistula
o This malformation can occur in either sex, is somewhat rare, and is associated
with a good prognosis. It is commonly associated with trisomy 21.
 o Diagnosis is primarily by exclusion.
o Lateral pelvic radiography is performed in babies who have no external
evidence of fistula, who pass no meconium after 24 hours, and who have no
meconium in the urine.
o If the pelvic rectal pouch is within 1 cm of the anal dimple, a primary pull-
through may be performed. In these instances, a fistula is unlikely but should be
definitely excluded using the proper surgical technique.
o If the surgeon opts for colostomy, the absence of a fistula is confirmed using
distal colostography.
Cloacal exstrophy
o This extremely rare malformation can occur in either sex but is most common
in boys. It encompasses a spectrum that includes variant forms of covered
exstrophy. The classic form is devastatingly complex.
o Affected children have an omphalocele and a large extrophied cloacal plate on
their lower abdominal wall. They have 2 hemibladders separated by an intestinal
plate, often with prolapsed terminal ileum that proceeds distally to include an
extrophied urethral plate flanked by 2 hemiphallic or hemiclitoral structures.
o All children with cloacal exstrophy have some degree of pubic symphysis
diastasis and may have a spinal malformation, most commonly myelocystocele.
o Thankfully, this complex malformation is rare but it has devastating
implications on quality of life.

Medical Care
Newborns with imperforate anus should not be fed and should receive intravenous
hydration. Life-threatening comorbidities take precedence and must be treated first. If a
urinary fistula is suspected, broad-spectrum antibiotics can be administered, although
anaerobic coverage is unnecessary within the first 48 hours of life. Any cardiac murmurs
identified upon physical examination should be evaluated using echocardiography prior to
surgical intervention. The remainder of treatment includes diagnostics and surgical evaluation
and management.

Surgical Care
 The decision-making process aims to determine which children should undergo primary
repair in the neonatal period and which children require colostomy and definitive repair in a
staged fashion. Children with anorectal malformations may undergo one or several of the
following surgical procedures based on the child's presentation, physical examination
findings, and imaging study findings.
Neonatal colostomy
o A colostomy is performed in children who are not amenable to primary pull-
through either because of malformation complexity (any urinary fistula in boys,
vestibular fistula and cloaca in girls, no fistula in either sex >1 cm from perineal
skin) or associated comorbidity.
o The colostomy is usually fashioned through a left lower quadrant incision. The
colon is divided at the point where the descending colon meets the sigmoid colon,
and both ends are brought to the abdominal wall. By fashioning the colostomy at
this location, the entire sigmoid colon is kept in place; thus, when the pull-through
is eventually performed, a large portion of the colon is available for the surgeon to
bring down to the perineal skin.
o The mucous fistula (the downstream segment) should be very small, flush with
the skin, and far enough from the proximal end to be outside the colostomy
appliance (or under the flange) to avoid continued urinary soiling with feces.
o During this operation, the distal segment of the colon must be exhaustively
irrigated to clean out the impacted meconium, which is always significant. This
prevents postdiversion urinary sepsis and allows for effective distal colostography.
Primary neonatal pull-through without colostomy
o Many pediatric surgeons opt for primary pull-through in children with perineal
fistulas (or no fistulas) and close (< 1 cm) rectal pouches on 24-hour lateral pelvic
radiography. Some pediatric surgeons who specialize in colorectal problems often
offer the same procedure for girls with vestibular fistulas.
o Cystoscopy is usually performed to rule out associated malformation. This is
performed immediately prior to the pull-through operation. A Foley catheter is
inserted following the cystoscopy.
o The preferred surgical approach is the posterior sagittal approach developed
by Pea et al.
 The child is placed in the prone position with generous padding under
the face and chest and a large bolster under the hips to elevate the area of
interest.
A muscle stimulator is used to show the precise position of the rectal
muscle complex to enable exact division at the midline. The midline for this
operation is defined by the line that precisely divides the muscle complex in
half.
Dissection proceeds until the rectal pouch is identified. The pouch is
then mobilized until adequate length is obtained and the rectum is fully
separated from its attachment to the genitourinary tract. Even if the
structures do not communicate, they remain intimately associated until fully
mobilized. This step ensures that the surgeon does not miss a fistula that was
missed on urinalysis findings.
Once the rectum has been mobilized, the muscle stimulator is used to
mark the anterior and posterior limits of the muscle complex. The perineal
body is then reconstructed, and the rectum is tacked down in the middle of
the muscle complex. The posterior wound is closed and anoplasty is
performed.
Posterior sagittal pull-through with colostomy
o This approach is used in boys with rectourinary fistula (bulbar, prostatic, or
bladder-neck fistula), in girls with cloaca or vestibular fistula, and in patients of
either sex who do not have a fistula when the rectal pouch is further than 1 cm on
24-hour lateral prone abdominal radiography.
o The approach is also used in children who may have malformations that were
amenable to primary neonatal pull-through but were unable to undergo such a
procedure because of extreme prematurity or other comorbidity.
o Colostomy is performed after 24 hours (or immediately if one of the above
diagnoses is made based on either physical examination findings or meconium in
the urine).
o Several weeks following colostomy, distal colostography is performed, and the
specifics of the malformation are clarified.
o Cystoscopy is usually performed to clarify anatomy and to rule out associated
malformation. This is performed immediately prior to the pull-through operation.
A Foley catheter is inserted following the cystoscopy, except in girls with cloaca.
o The reconstructive procedure varies based on the malformation, but the
essential concepts include identifying and separating the rectum from other
structures, dividing and ligating any fistulas, and fully reconstructing the pelvic
anatomy with placement of the rectum within the confines of the muscle complex.
Procedures for specific malformations are as follows:
Vestibular fistulas are directly visible but have the longest common
wall between the rectum and vagina and require significant delicate
mobilization to avoid holes in either structure.
The posterior sagittal approach is used in boys with bulbar or prostatic
urethral fistulas. The rectum is isolated and opened, and the fistula is
identified through progressive distal opening. Once the fistula is identified,
the rectum proximal to it may be mobilized, and the fistula is then ligated.
Reconstruction then proceeds with primary pull-through, as described above.
Abdominal (open or laparoscopic) and posterior sagittal approaches are
best in boys with bladder-neck fistulas because the fistula is best identified
in the abdomen.
Cloaca procedures are complex. A short common-channel cloaca can
be repaired using total urogenital mobilization. The posterior sagittal wound
is opened into the cloaca, which is then further proximally opened until the
urethral orifice is identified and catheterized. The rectum is then sought. In
girls with 2 hemivaginas (50%), the rectum opens in the vaginal septum,
although significant asymmetry may be present. After identification, the
rectum is separated from the urogenital tract and completely mobilized. The
urogenital tract is then mobilized as a solitary structure until the urethral
orifice reaches the perineum. This is then reconstructed, and the muscle is
marked to enable creation of an adequate vaginal opening and perineal body
without impinging on rectal space.
A long common-channel cloaca repair often necessitates formal
separation of the bladder and vagina, which requires laparotomy and ureteral
 catheterization. Vaginal replacement is sometimes necessary if the vaginal
length is insufficient for reconstruction.
Colostomy closure: Once the wound has completely healed and postoperative
dilations have achieved their goal (ie, the neoanus is at the desired size), the colostomy
may be closed in traditional surgical fashion.

Consultations
The following consultations may be indicated:
Pediatric surgeon: Early consultation with a pediatric surgeon experienced with these
anomalies is essential. Ill-conceived procedures during the newborn period may have
lifelong consequences for the patient.
Neurosurgeon: Consultation with a neurosurgeon is warranted if a tethered spinal cord
is present (25% of all cases).
Urologist: The need for consultation with a urologist depends on the malformation
and the individual pediatric surgeon.

Diet
After the obstruction is relieved using colostomy, primary pull-through, or dilation,
children do not require special diet. The most common complication of imperforate anus
repair is constipation or anal incontinence; therefore, diet can be a crucial part of
management. Many patients may require laxatives, enemas, or other medications or
irrigations in addition to dietary manipulations. Children should avoid constipating foods,
such as those included in the bananas, rice, applesauce, and toast (BRAT) diet. High-fiber and
laxative foods (whole-grain foods and breads, dairy, fruits, vegetables, greasy foods, spicy
foods) should be encouraged. Unfortunately, dietary manipulation is often of limited
effectiveness because of the fussy nature of most children regarding diets. Fiber supplements
and laxatives can be critically important in avoiding constipation, which can significantly
affect prognosis.

Activity
 Children with anorectal malformations are often otherwise healthy. Activity
limitations are usually related only to the period around their surgical procedures.

Medication Summary
Many children with anorectal malformations require medications for various reasons.
Beyond perioperative medications, maintenance medications often include urinary
antibiotic prophylaxis or treatment and/or laxatives.
Urinary prophylaxis is used to mitigate the risk of urinary infection and urosepsis in
children with risk factors for urinary infection such as urinary fistula, vesicoureteral
reflux, or continent diversion. Common agents include oral amoxicillin, oral
trimethoprim/sulfamethoxazole, and gentamicin bladder irrigations.
Common laxatives include senna products, milk of magnesia, and propylene glycol
solutions (eg, MiraLax, GlycoLax).

Further Outpatient Care

Children with an anorectal malformation require close follow-up for life. Continuity
of care is essential in the growing years and into adulthood, as the children deal with
issues relating to continence and constipation.
Following the initial colostomy, further investigations in preparation for definitive
operation, such as distal colostography or repeat renal ultrasonography, are performed
in an outpatient setting.
Following definitive operation in either the neonatal period or after colostomy,
follow-up is necessary 2 weeks after surgery. Parents are often instructed as to how to
obtain a set of Hegar dilators, which they are to bring to the first postoperative visit. At
that visit, the surgeon measures the size of the anus and instructs the parents how to
perform the daily dilations. These dilations continue until the anus has reached its goal
size. At this time, the colostomy may be closed if one was performed.
Patients with cloacal anomalies need specialized follow-up care after puberty to
assess sexual function and to correct genitourinary problems.
o Some girls who have undergone surgical correction for cloaca have
incompletely canalized fallopian tubes and can develop painful cystic collections
of menstrual blood following menarche. This condition sometimes requires
surgical intervention. A pediatric gynecologist can be extremely helpful for these
 girls and can suppress menstrual blood production through exogenous hormone
administration until a clear treatment strategy is established.
o Only within the past 20-30 years have significant numbers of girls with cloaca
undergone definitive repair. A few have become pregnant. While this is
miraculous, the delivery process should include close involvement of the pediatric
surgeon who performed the original repair, if possible. If this is not possible, a
surgeon experienced in cloaca repair should be consulted. Caesarean delivery is
the only safe way to avoid damage to tissues that originally required complex
reconstruction.
Some children present with prolapse during the toilet-training years. Eliminating
constipation as a cause helps identify children who need surgical trimming of prolapsed
mucosa.
Visits for constipation are frequent, and it is best treated with a regular preventative
regimen that includes diet, fiber, and laxatives for as long as they are needed. Dietary
water does not influence stool quality in a healthy child.

Further Inpatient Care

See the list below:
After initial colostomy, the child is able to eat and grow, and any other associated
malformations may be addressed. Most patients are discharged once their ostomy has
started to function and they tolerate a regular diet.
Following definitive repair, inpatient course is dictated by the presence or absence of
a colostomy.
o If a child has been diverted with a colostomy prior to definitive repair and the
repair is effectively completed using a posterior sagittal incision without
laparotomy, the postoperative course is usually brief. The child may eat after the
anesthesia wears off and requires a short hospitalization with perioperative
antibiotic administration.
o Complicated repairs that require laparotomy also require more lengthy
postoperative courses. These children usually require several days before
intestinal function returns and a diet may be resumed.
o Repairs made without a colostomy may be treated with a "medical colostomy,"
meaning the child is not fed (ie, strict nothing-by-mouth [NPO] status) and a
central line is placed for total parenteral nutrition. After an arbitrary period
 (commonly 5, 7, or 10 d, determined at the discretion of the surgeon in
consideration of a host of factors), a diet is resumed and the total parenteral
nutrition is stopped. The central line is removed, and the child may then be
discharged.
Following ostomy closure, the child usually remains in the hospital for 2-3 days until
intestinal function returns. Diet is then resumed, and the child may be discharged.

Inpatient & Outpatient Medications

Routine pain medications for surgical procedures are warranted. Acetaminophen (15
mg/kg every 4 h) or morphine sulfate (0.05-0.1 mg/kg intravenously every 2-4 h)
usually suffices.
The usual perioperative antibiotics include ampicillin (50 mg/kg every 6 h),
gentamicin (2 mg/kg every 8-12 h), and clindamycin (10 mg/kg every 8 h).
Many laxatives have been used to control constipation in these patients. Senna comes
in various forms and can be highly effective, although dosage must be individualized.
The clinician must be personally engaged and must establish an effective dose response
for each patient on a case-by-case basis.
Balanced electrolyte solutions have been used for years as a bowel preparation for
surgical procedures. These solutions have only recently been made available in
powdered form for mixing at home and for use as a laxative (under the name MiraLax
or GlycoLax). These nonstimulant laxatives are very palatable to children because they
dissolve in any beverage with minimal impact on taste.
In children who require urinary prophylaxis, standard medications include amoxicillin
(first-line medication in newborns), nitrofurantoin, and trimethoprim/sulfamethoxazole
(not used in babies aged < 2 mo). To ascertain a prophylaxis dose for one of these
antibiotics, calculate a treatment dose based on the normal administration interval (2, 3,
or 4 times per day) and then administer that same dose once per day. For example, if the
amoxicillin treatment dose is 20-50 mg/kg/d divided every 8 hours and a patient weighs
10 kg, the normal dose may be 30 mg/kg/d (which falls within the recommended
range). Because the patient weighs 10 kg, the dose is 100 mg every 8 hours. The
prophylaxis dose would then be a once-daily dose of 100 mg.
Transfer
Proper consultation and surgical management are important. Transferring these
patients to a facility that provides pediatric surgical care aids in proper classification,
diagnosis, and management. Optimal resources for the care of these children includes a
pediatric surgeon with experience in anorectal malformations, a pediatric urologist, a
pediatric anesthesiologist, a critical care specialist, and a neonatologist.

Complications
Pitfalls abound in the diagnosis and treatment of children with anorectal
malformations. A logical approach and an experienced eye are essential for starting the child
down the right path from the outset. Complications, while sometimes unavoidable, can have
devastating ramifications with respect to a child's chances for urinary and fecal continence.
The following are a few of the most common issues encountered at pediatric colorectal
centers:
Primary repair without colostomy: Although certain malformations can be primarily
repaired by an experienced pediatric surgeon in the neonatal period without the
protection of colostomy, more complex malformations should be treated with colostomy
at the initial operation. Primary neonatal operations do not afford the surgeon the
benefit of distal colostography to help clarify anatomy. This has resulted in devastating
injuries that could have been avoided with a staged approach (colostomy, followed by
definitive operation, followed by colostomy closure) with appropriate diagnostic
studies.
Colostomy type and position: The ideal colostomy position in children with an
anorectal malformation is at the junction of the descending and sigmoid colon. The
colostomy should be completely divided, with the ends spaced far enough apart to
ensure that the mucous fistula is not located within the ostomy appliance. This prevents
continued soiling of the urinary tract by feces, which can result in urinary infection.
Loop colostomies are never completely diverting and put a child at risk for urinary
sepsis. Transverse colostomies seem to be associated with a significant degree of
mucous accumulation in the long defunctionalized segment, resulting in chronic
distension and dysmotility similar to that seen in children with atresias. Desire to
perform laparoscopic pull-through should not be a primary factor in the decision to
perform colostomy. [8]
 Intestinal perforation
o This complication can arise during any phase of management.
o In children diagnosed with imperforate anus at birth, 24 hours is allowed to
pass prior to surgical treatment if perineal fistula (or other visible malformation,
eg, vestibular fistula or cloaca) is not evident and urinalysis findings do not show
meconium. This allows the distal colon to distend a bit, and meconium
occasionally leaks out on the perineum from a tiny perineal fistula. This waiting
period is advocated by the most experienced surgeons and should not increase the
risk of perforation prior to repair or colostomy. Although exceedingly rare, some
children have perforated during this period.
o Perforation has also occurred during anal dilations. Dilations should always be
performed first by the surgical staff. Dilation (performed instead of anoplasty)
should be performed only by the surgical staff in extremely low birthweight
premature babies. Parents may be taught how to dilate larger babies but must be
closely supervised.
o Perforation is minimized by appropriately positioning the colostomy while
avoiding a transverse colostomy.
Operative complications: Correction of malformations, even those that some surgeons
may describe as minor, requires significant experience, a keen eye, and a sensitive hand.
Devastating complications (eg, complete dehiscence, postoperative fistula, missed
fistula, urologic injury, ischemia) can render a child who may have been continent after
a successful operation completely incontinent. Thus, these children should be directed
to a subspecialist with a special interest in this area at the earliest possible opportunity.
Stenosis: This is a narrowing of the new anus. A tight ring of scar tissue forms instead
of a soft and stretchable anus. This is a devastating complication and usually requires
complete surgical repair. A regular schedule of slow progressive dilation of the neoanus
prevents stenosis. Weekly dilations increase risk of stenosis. If the dilations are spaced
too far apart, the anus can narrow between the dilations. Large dilations provoke tears.
Tears heal with scar tissue, which causes stenosis.
Undrained hydrocolpos
o Many baby girls born with cloaca have a very large mucous-filled vagina. This
may appear as a giant cystic structure on prenatal ultrasonography.
Ultrasonography should be performed at birth to look for such a cystic mass. If
 present, it must be drained either from below (through the cloaca) or at the time of
colostomy using a vaginostomy tube. If it is left undrained, complications ensue.
o Hydrocolpos can large enough to obstruct the ureters. Some children with
undrained hydrocolpos have undergone vesicostomy and ureterostomy, when
simple drainage of the hydrocolpos would have sufficed.
o Hydrocolpos can also become infected. If the vagina perforates, it usually
scars and becomes unusable, often necessitating vaginal replacement
Constipation
o Many children who have undergone anorectal malformation repair develop
constipation. This must be prevented by strong parental counseling and diligence
to ensure the child clears the rectum daily. Constipation on its own is not a
complication. The complication is not preventing the constipation through close
follow-up and parental counseling.
o Once constipation develops, the distal colon can become dilated, which
exacerbates the constipation because the dilated bowel has poor motility. The end
result is termed encopresis. Fecal impaction forms, and liquid stool leaks around it
constantly, leaving the child incontinent. This can be treated but is best prevented.
o Incontinence: Many children who have malformations associated with poor
prognosis develop fecal or urinary incontinence, even after a flawless operation
without complication. While "the plumbing" may seem to be a relatively simple
matter of rearranging some tubes, continence is a complex state that requires a
delicate balance of nerves, anorectal and colonic motility, and sphincter muscles.
Parents should be given realistic expectations and should be made aware of all
options, including bowel management or continent diversion and intermittent
catheterization, should incontinence occur.

Prognosis
See the list below:
All patients who have an anorectal malformation with no significant life-threatening
comorbidity should survive. Therefore, prognosis is best determined based on the
probability of primary fecal continence.
Continence, defined as voluntary bowel movements with minimal soiling, varies
based on primary and associated malformations. A tethered spinal cord or another spinal
 malformation, such as hemivertebrae or spinal dysraphism, may significantly increase
the risk of incontinence.
Surgical complications worsen the chances for primary continence, although this
effect is difficult to quantify. Reoperation significantly decreases the opportunity for
primarily continence.
All children with a perineal fistula should be continent. Spinal malformations are
exceedingly rare in this group.
Approximately 90% of girls with a vestibular fistula have voluntary bowel
movements. [9]
Approximately 80% of boys with a bulbar urethral fistula have voluntary bowel
movements, whereas 66% of boys with prostatic urethral fistula have voluntary bowel
movements. Only 15% of boys with bladder-neck fistulas have voluntary bowel
movements. [9]
Children with imperforate anus without fistula have a 76% chance of having
voluntary bowel movements. [9]
The chance of fecal and urinary continence in girls with cloaca varies based on the
length of the common channel. Girls with a short common channel and no associated
urological or spinal malformations can have excellent results, with as many as 75% of
girls developing voluntary bowel movements. Urinary or fecal continence is very
unlikely in girls with longcommon-channel cloacae, sacral malformations, and a
tethered spinal cord. [9]
The best determination for future continence is observation of function. A child who
constantly leaks stool or urine constantly will probably not improve by school age and
may benefit from early bowel management or intermittent catheterization. If a child is
able to hold urine, stool, or both, the best course is to observe his or her function.
Regardless of what the child will be capable of in the future, cleanliness of urine and
stool must be established before a child enters a school peer group. No child should be
allowed to suffer the stigma of being the "smelly" child simply because their physician
or parents were unable to accept the child's incontinence or because they were not yet
ready to proceed. Even in the worst cases, hope remains. However, the decisions made
must be practical and must allow the child to seamlessly fit in with their peer groups.

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