56
Anorectal malformations
MARC A LEVITT, ANDREA BISCHOFF, and ALBERTO PEÑA
HISTORY
Anorectal malformations have been described for centuries.
Previously, most children with these malformations
received an operation involving the creation of an orifice on
the perineum. With this simple procedure, many children
survived, probably because the rectum was located very
close to the skin. However, many died, probably because
the rectum was located high in the pelvis. In 1835, Amussat
reported, for the first time, suturing of the rectal wall to the
skin edges, essentially the first anoplasty.
For many years, surgeons performed a perineal
operation, without a colostomy, for the so-called
‘low malformations’. High imperforate anus, on the
other hand, was usually treated with a colostomy
performed during the neonatal period, followed by an
abdominoperineal pull-through sometime later in life.
The specific recommendation was to pull the intestine
as close to the sacrum as possible to avoid trauma to
the genitourinary tract. Stephens performed the first
objective anatomic studies of human cadavers with these
defects, and in 1953 proposed an initial sacral approach
to separate the rectum from the urinary tract with
preservation of the puborectalis sling (considered a key
factor in maintaining fecal continence). He also suggested
opening the abdomen, if necessary, after the sacral
approach. Following Stephens’ recommendations, several
different surgical techniques were proposed. The common
denominator in all these techniques was the protection
and utilization of the puborectalis sling. In 1980, a new
approach, the posterior sagittal anorectoplasty, allowed
direct exposure of this important anatomic area by
incising and then reconstructing the funnel-like sphincter
mechanism. With this approach, it became possible to
correlate the external appearance of the perineum with the
operative findings, and subsequently the clinical results.
The approach has implications for understanding the
anatomy of these defects, terminology, classification, and
most importantly, treatment.
PRINCIPLES AND JUSTIFICATION
Incidence
Anorectal malformations occur in 1 in 4000 neonates,
slightly more commonly in boys than in girls. The most
common defect in girls is a rectovestibular fistula followed
by a rectoperineal fistula. Contrary to what is claimed in
most of the published literature, girls with rectovaginal
fistulas are rare. Most of the ‘rectovaginal fistulas’ reported
in the literature are probably cases of misdiagnosed
cloacas or rectovestibular fistulas. Therefore, the third
most common defect in girls is persistent cloaca. The most
common defect in boys is a rectourethral fistula, followed
by a rectoperineal fistula. Rectobladderneck fistulas in
boys represent 10 percent of the entire group of defects.
Imperforate anus without fistula in both boys and girls is
unusual and represents only 5 percent of the entire group
of defects, although it is particularly common in patients
who also have Down syndrome. The estimated risk of
having a second child with an anorectal malformation
is 1.4 percent, but when the first child is born with a
perineal or vestibular fistula this incidence increases to
3 percent. There is less family transmission among patients
with cloacas, rectobladderneck and rectourethral prostatic
fistulas.
Classification
The classification shown in Box 56.1 is proposed because it
is therapeutically oriented.
 Principles and justification 499

Box 56.1 Classification of anorectal

malformations
Boys
• Rectoperineal fistula
• Rectourethral fistula
– Bulbar
– Prostatic
• Rectobladderneck fistula
• Imperforate anus without fistula
• Rectal atresia
Girls
• Rectoperineal fistula
• Vestibular fistula
• Persistent cloaca
• Imperforate anus without fistula
• Rectal atresia

BOYS
Rectoperineal fistula
1 This type of defect is also known as a low imperforate
anus. The rectum is located within most of the sphincter
mechanism. Only the lowest part of the rectum is anteriorly
displaced.

2, 3 Sometimes, the fistula follows a subepithelial midline
tract opening along the midline perineal raphe, scrotum, or
penis. The perineal findings in this kind of defect include a
prominent skin tag, below which an instrument can be passed,
known as a ‘bucket-handle’ malformation (Illustration 2),
a black or white, ribbon-like, midline structure that represents
a subepithelial fistula filled with meconium, or a very well-
formed anal dimple suggesting the presence of a very low
defect (Illustration 3). The diagnosis is established by perineal
inspection. No further investigations are required.

2 3
500 Anorectal malformations

Rectourethral fistula
This is the most common defect in boys.

4, 5 The rectum may communicate with the lower part

of the urethra (bulbar urethra) or with the upper urethra
(prostatic urethra). Immediately above the fistula site, the
rectum and urethra share a common wall with no plane
of dissection. This anatomic fact has important technical
implications. The rectum is surrounded laterally and 4
posteriorly by the levator muscle mechanism. Between the
end of the rectum and the perineal skin, there is a portion
of striated voluntary muscle called the ‘muscle complex’.
The contraction of the levator muscle pushes the rectum
forward. The contraction of the muscle complex elevates
the skin of the anal dimple. At the level of the skin, and
located on both sides of the midline, there is a group of
voluntary muscle fibers called ‘parasagittal fibers’.

6 Patients with rectourethral bulbar fistulas usually have a

normal sacrum and a ‘good-looking perineum’ consisting
of a prominent midline groove.

6

7 Patients with rectourethral prostatic fistulas tend to
have an abnormal sacrum, underdeveloped sphincter
mechanism, and flat perineum. The anal dimple is often
located very close to the scrotum. Exceptions exist,
however. Neonates with rectourethral fistulas may pass
meconium through the urethra, usually after 20 hours of
life, which is an unequivocal sign of rectourethral fistula.
Imperforate anus without fistula
In these cases, the rectum is completely blind and is
almost always found at the same level as in cases with
rectourethral bulbar fistula. The sacrum and sphincteric
mechanism are usually normal and therefore these patients
have a good prognosis. This is a common malformation in
patients with Down syndrome.
Rectal atresia/stenosis
This is a very unusual defect, occurring in only 1 percent
of cases. These are the only patients with imperforate
Principles and justification 501
Rectobladderneck fistula
8 In these malformations, the rectum communicates
with the urinary tract at the bladderneck. The levator
muscle, muscle complex, and parasagittal fibers are often
poorly developed. The sacrum is often deformed or
absent. The entire pelvis seems to be underdeveloped, and
its anteroposterior diameter seems to be foreshortened.
The perineum is usually flat. For all these reasons, the
prognosis for bowel function is poor.
anus who are born with a normal appearing anal canal.
Externally, the anus looks normal, and the malformation
is often discovered during an attempt to take a rectal
temperature or after the onset of symptoms and signs
of low intestinal obstruction. About 2 cm from the anal
verge, there is an atretic or stenotic area. The upper
blind rectum is usually located very close to the anal
canal. The sacrum is normal, the sphincteric mechanism
is excellent, and therefore the prognosis is good. This
malformation is particularly associated with a presacral
mass.
502 Anorectal malformations

GIRLS
Rectoperineal fistula
9 This defect is equivalent to the rectoperineal fistula
described for boys. The rectum and vagina are separated.
The sphincteric mechanism is very good, and therefore the
prognosis is also good.

Rectovestibular fistula
This is the most common defect seen in girls. It has an
excellent functional prognosis. Unfortunately, this is the
most common type to suffer a failed repair.

10 The intestine opens in the vestibule of the female

genitalia immediately posterior to the hymen. The most
pertinent anatomic characteristic of this defect is that
immediately above the fistula site, the rectum and vagina
share a very thin common wall. These patients usually
have good muscles and a normal sacrum. The diagnosis
is established by perineal inspection. These patients are
commonly mislabeled as having a rectovaginal fistula,
which only reflects an imprecise inspection of the newborn
genitalia.

10
 Principles and justification 503

Imperforate anus without fistula and rectal atresia/ ASSOCIATED DEFECTS

stenosis Sacrum and spine
These defects in girls have the same anatomic characteristics The sacrum is often abnormal in anorectal malformations.
as those described in boys, and therefore have similar There appears to be very good correlation between the degree
prognostic implications. of sacral development and the final functional prognosis.

11a,b In order to improve the prognostic accuracy

based on sacral abnormalities, a sacral ratio was created
that expresses the degree of sacral development. For this
measurement, three lines are drawn: line A extends across 11a
the uppermost portion of the iliac crests; line B joins both
inferior and posterior iliac spines and passes through the
sacroiliac joint; and line C runs parallel to lines A and B
A
and passes through the lowest radiologically visible sacral
point. In 100 normal children, the ratio of the distances
BC:AB was between 0.7 and 0.8 in both anteroposterior and
lateral projections. Children with anorectal malformations
suffer from different degrees of sacral hypodevelopment, B
with the ratio varying between 0 and 1.0. A ratio of less
than 0.4 represents a poor functional prognosis, and all
such patients have fecal incontinence.

11b
504 Anorectal malformations
12a,b Two different examples of sacral abnormalities and
poor ratios.
12a
Higher spinal abnormalities include hemivertebrae
located in the lumbar or thoracic spine. The prognostic
implications of these types of defects in terms of bowel
and urinary control are not known. These patients often
need treatment for scoliosis. Further, all neonates with
anorectal anomalies require investigation of their spinal
canal, generally with a spinal ultrasound.
Urogenital defects
The frequency of associated urogenital defects varies from
25 to 50 percent. The reported variation may reflect the
accuracy and thoroughness of the urologic and gynecologic
investigations in different institutions. Patients with
persistent cloaca or rectobladderneck fistulas have a 90
percent chance of having significant associated urologic
abnormality. Children with minor defects (rectoperineal
fistula) have less than a 10 percent chance of suffering from
an associated urologic defect. The most common urologic
malformation associated with imperforate anus is absent
kidney, followed by vesicoureteric reflux. Hydronephrosis,
urosepsis, and metabolic acidosis from poor renal function
represent the main sources of mortality in neonates
with anorectal malformations. Patients with anorectal
12b
malformations should have an ultrasonographic study
of the abdomen during the first 24 hours after birth,
and if this study shows some abnormalities, a thorough
urologic evaluation is indicated. Gynecologic issues, such
as a vaginal septum and absent vagina, are common (5–10
percent of rectovestibular fistulas), and inspection of the
vaginal canal is important prior to proceeding with surgical
intervention. In cloacas, duplicated Müllerian systems and
hydrocolpos occur in 40 and 30 percent, respectively.
Other defects
Other congenital malformations are commonly associated
with anorectal malformations including esophageal atresia,
duodenal atresia, and cardiovascular defects.
Management of anorectal malformations
during the neonatal period
Two important questions must be answered during the
first 24 hours of life: what are the associated anomalies and
what operation is required, a newborn pull-through or a
colostomy?

BOYS
The decision-making algorithm for the management of
newborn males with anorectal malformations is shown
in Figure 56.1. Associated malformations must be
investigated. In more than 80 percent of boys, perineal
inspection and urinalysis provide enough clinical evidence
to make a clinical diagnosis. If a rectoperineal fistula exists,
the patient may be treated with a minimal posterior sagittal
anorectoplasty in the newborn period. The presence of a
flat bottom and the demonstration of meconium in the
urine are an indication for a diverting colostomy. The
colostomy decompresses the intestine in the neonatal
period, provides access for a contrast study to define
the anorectal anatomy, and will subsequently provide
protection against infection during the healing process
after the main repair.
Newborn Male – Anorectal Malformation
Perineal inspection
Urinalysis
Kidney U/S
Evaluation Sacrum x-ray
20–24 hours: Spinal U/S
R/O esophageal atresia
Echocardiogram
Re-evaluation and
cross-table lateral film
Perineal fistula Rectal gas below the coccyx Rectal gas above the coccyx
Negative urinalysis Meconium in the urine
No associated defects Associated defects
Abnormal sacrum
Flat bottom
Anoplasty Consider PSARP Colostomy
with or without colostomy
Figure 56.1 Decision-making algorithm for the management
of newborn males with anorectal malformations.
It is important to wait 20–24 hours before making
a decision, for these patients do not show abdominal
distension during the first few hours of life. Even if a
rectoperineal fistula is present, meconium is not usually
seen on the perineum until 20–24 hours after birth,
because a significant amount of intra-abdominal pressure
is required for the meconium to force its way through
a perineal or urinary fistula. A significant amount of
intraluminal rectal pressure is required to reach a level
high enough to overcome the voluntary muscle tone that
keeps the most distal part of the rectum compressed. It
must be remembered that, in most cases of anorectal
malformation, the most distal part of the rectum is
surrounded by a striated muscle mechanism that keeps the
rectum collapsed (see illustrations 1, 4, and 5). To distend
that most distal part of the rectum, it is necessary to exert
significant intraluminal pressure. Radiologic evaluations
Principles and justification 505
performed during the first hours of life are therefore
unreliable, as they will show a falsely high rectum.
Shortly after birth, intravenous fluids should be
administered and a nasogastric tube inserted to keep the
stomach decompressed and thus avoid the risk of vomiting
and aspiration. An ultrasonographic study of the abdomen
is performed to rule out the presence of other anomalies
(mainly urologic). A piece of gauze is placed on the tip of
the penis, and the nurses are then instructed to check for
particles of meconium filtered through this gauze.
If after 20–24 hours of observation there is no clinical
evidence indicating the need for a colostomy or a primary
perineal operation, the patient should have a cross-table
lateral film performed in the prone position, to determine
the position of the rectal pouch. The anal dimple is marked
with radio-opaque material. If the rectum is visible below
the coccyx, the patient can undergo a primary newborn
repair, provided the surgeon is experienced with this
technique. If the image is questionable, it is preferable to
construct a diverting colostomy.
After recovering from the colostomy, the patient is
discharged from the hospital. If the patient is growing
well and has no other associated defects (cardiovascular or
gastrointestinal) that require treatment, he is readmitted at one
to three months of age for a posterior sagittal anorectoplasty.
Performing the definitive repair at that young age has
important advantages for the patient, including less time
with an abdominal stoma, less size discrepancy between
proximal and distal stoma at the time of colostomy
closure, simpler anal dilatation, and no recognizable
psychologic sequelae from painful perineal maneuvers. In
addition, at least theoretically, placing the rectum in the
right location early in life may be an advantage in terms of
acquired local sensation.
Some surgeons have proposed a primary repair of
all anorectal malformations during the neonatal period
without a protective colostomy. There is no question that
this can be done and that it has the potential of avoiding
the morbidity related to the formation and closure of a
colostomy. However, diagnostic tests (other than a distal
colostogram which obviously requires the presence of a
colostomy), used to determine the level of the defect, are
not accurate enough, and the surgeon is actually subjecting
the patient to a blind exploration of the perineum. If the
rectum is located high in the abdomen, the surgeon may
damage other structures during the search for the rectum.
Such structures include the posterior urethra, seminal
vesicles, vas deferens, and ectopic ureters. In addition,
there is a risk of dehiscence and infection because the stool
is not diverted.
GIRLS
A decision-making algorithm for the initial management
of female newborns is shown in Figure 56.2. Perineal
inspection usually provides more information in girls
than in boys. The principle of waiting 20–24 hours before
making a decision is again valuable.
506 Anorectal malformations

Newborn Female – Anorectal Malformation

Perineal inspection
Urinalysis
Kidney U/S
Evaluation Sacrum x-ray
20–24 hours: Spinal U/S
R/O esophageal atresia
Echocardiogram

Perineal fistula Single orifice No fistula

Vestibular fistula Cloaca Cross-table lateral film

Anoplasty/dilation Colostomy Colostomy if Anoplasty if

or colostomy Hydrocolpos gas above the gas below the
drainage coccyx coccyx
(if present)

Figure 56.2 Decision-making algorithm for the management

of newborn females with anorectal malformations.

13 The presence of a single perineal orifice is

pathognomonic for a cloaca. Because of their complexity,
these defects are dealt with separately in Chapter 57.

13

Vagina
14 Perineal inspection may reveal the presence of
Fistula a rectovestibular fistula, which is the most common
condition in girls. In cases of imperforate anus with
rectovestibular fistula, the rectal orifice is located within
the vestibule and outside the hymen. A true rectovaginal
fistula is an extremely rare anomaly.

14

These patients can undergo a primary repair via a
posterior sagittal approach, either in the newborn period
or following a period of dilatations provided the surgeon
has adequate experience and a meticulous technique is
utilized. The authors’ preference is the newborn period.
A colostomy followed by the definitive repair is also an
acceptable and safe approach.
These fistulas are usually large enough to decompress
the gastrointestinal tract. Occasionally, the fistula is
too narrow and the patient will suffer from abdominal
15 A rectoperineal fistula is the simplest defect in the
spectrum of female malformations. These patients can
be treated with a minimal posterior sagittal anoplasty,
without a colostomy, during the neonatal period.
Most girls with imperforate anus have a fistula (95 percent).
Sometimes, after 20–24 hours of observation, the neonate’s
abdomen may become distended and yet there is no
evidence of meconium passing through the genitalia. In
such a case, the baby likely has imperforate anus without
fistula. The neonate should undergo a cross-table lateral
radiograph using the same principles discussed for male
neonates above (see Figures 56.1 and 56.2).
OPERATIONS
Colostomy
A descending colostomy with separated stomas is
preferable for the management of anorectal malformations.
Transverse colostomies have several disadvantages: the
mechanical preparation of the distal colon before the
definitive repair is much more difficult and, in the case
of a large rectourethral fistula or rectobladder fistula,
the patient often passes urine into the colon, where it
remains and is absorbed, leading to metabolic acidosis.
Also, during the distal colostography, it is more difficult to
distend the distal rectum and define the anatomy. Patients
with transverse colostomies are more likely to develop
a megarectosigmoid. A more distal colostomy does not
allow significant absorption of urine. Loop colostomies
Operations 507
distension. In these patients, the fistula may first be dilated
in order to facilitate emptying of the rectum. The defect is
then repaired with a limited posterior sagittal operation.
Patients with rectovestibular fistula are the ones who
most often suffer from a failed attempt at primary repair
without a colostomy. In addition, patients with this
defect are usually continent after a successful operation.
Therefore, an infection and/or dehiscence is particularly
problematic as it may damage the continence mechanism
and change the final functional prognosis.
Fistula
15
often permit the passage of stool from the proximal stoma
into the distal intestine, which can cause urinary tract
infections and impaction of stool in the distal rectal pouch.
Prolonged dilatation of the rectal pouch may translate
into severe constipation later in life. Colostomy prolapse
is more common with loop colostomies and those created
in a mobile portion of the colon. A colostomy created too
distally in the area of the rectosigmoid colon may interfere
with mobilization of the rectum during the pull-through
procedure. The incidence of prolapse in the proximal
limb of descending colostomies is almost zero, due to
the fact that the proximal stoma is opened immediately
distal to where the descending colon is fixed to the left
retroperitoneum.
During the opening of the colostomy, the distal intestine
must be irrigated to remove all the meconium, preventing
the formation of a megasigmoid.
508 Anorectal malformations
16 The colostomy is constructed through a left lower
quadrant oblique or transverse incision. The proximal
stoma is exteriorized through the upper and lateral part
of the wound and the mucous fistula is placed in the
medial or lower part of the wound. The colostomy should
be made in the mobile portion of the colon, immediately
distal to the descending colon taking advantage of its
retroperitoneal attachments, and the mucous fistula is
made very small to avoid prolapse. The stomas should be
separated enough to allow the use of a stoma bag, which
covers only the functional stoma.
High-pressure distal colostography
Before the definitive repair, distal colostography is
performed. It is the most valuable and accurate diagnostic
study to define the anatomy of the anorectal malformation.
Water-soluble contrast medium is instilled into the
distal stoma, which fills the distal intestine and enables
demonstration of the location of the blind rectum and
the precise site of a rectourinary fistula. The rectum is
surrounded by striated muscle, which keeps it collapsed
and prevents filling of the most distal part. This may give
the erroneous impression of a very high defect and may
prevent demonstration of a rectourinary fistula, which is
always located at the most distal part of the rectum. To
avoid this problem, the contrast medium must be injected
with considerable hydrostatic pressure under fluoroscopic
control. The use of a Foley catheter is recommended; it
is passed through the distal stoma, the balloon is inflated
(2–5 mL), and it is pulled back as far as possible to occlude
the stoma during the injection of the contrast medium.
This maneuver permits exertion of enough hydrostatic
pressure (syringe manual injection) to overcome the
muscle tone of the striated muscle mechanism, fill the
rectum, and demonstrate the urinary fistula when present.
In cases of rectourethral fistula (prostatic and bulbar),
the surgeon knows precisely where to find the rectum. In
cases of rectobladderneck fistulas, the surgeon does not
expect to find the rectum through the posterior sagittal
16
approach and thus avoids a blind perineal dissection.
In this latter case, the surgeon can prepare the patient for
an additional laparoscopy or laparotomy to mobilize a very
high rectum.
Definitive repair
INCISION
All anorectal malformations benefit from the use of the
posterior sagittal approach. The length of the incision
depends on the specific defect. The patient is placed in
the prone position with the pelvis elevated. An electric
stimulator is used to elicit muscle contraction during the
operation as a guide to remain exactly in the midline. An
incision that starts in the lower portion of the sacrum and
extends anteriorly to the anal sphincter is necessary for
rectoprostatic fistulas. Smaller incisions (limited posterior
sagittal anorectoplasty) are adequate for defects, such as
rectovestibular fistula. Rectoperineal fistulas require a very
small posterior sagittal incision (minimal posterior sagittal
anoplasty).
The anatomic relationship of the rectum to genitourinary
structures is complex. The separation of the rectum from
these structures represents the most risky part of the
procedure.
About 90 percent of male defects can be repaired via the
posterior sagittal approach without entering the abdomen.
 Operations 509

Repair in boys associated spinal or sacral problems. Others have described

RECTOPERINEAL FISTULA
The repair of these defects consists of a small anoplasty
with minimal mobilization of the rectum, sufficient for
it to be transposed and placed within the limits of the
sphincter. This is a meticulous operation and can be done
during the neonatal period without a colostomy. The most
common complication during the repair of this defect
is a urethral injury, which can be avoided by placing a
urethral catheter and taking particular care during the
dissection of the anterior rectal wall. These patients, both
boys and girls, have an excellent prognosis. These patients
have problems with bowel control if they are subjected to
an inadequate surgical technique, if they are not treated
adequately to prevent constipation, fecal impaction, and
overflow pseudo-incontinence, and if they have significant
an alternative approach, a Pott’s transplant anoplasty,
whereby the majority of the perineal body is preserved, the
mobilized fistula is brought through a separate incision
which is confined to the size of the future neoanal canal.
RECTOURETHRAL FISTULA
A Foley catheter is inserted through the urethra. In
about 5 percent of cases, this catheter goes into the
rectum rather than into the bladder. To avoid this, the
catheter must be intentionally directed anteriorly by
the use of a Coude catheter or with a lacrimal probe
inserted in the distal tip of the catheter to find its correct
path. Occasionally, the catheter must be positioned
intraoperatively under direct vision once the fistula is
visualized. Cystoscopic insertion of a catheter over a
glidewire is another option.

17 The skin is opened through a mid-sagittal incision,

and the parasagittal fibers and muscle complex are divided
exactly in the midline by use of fine-needle cautery. The
fibers of the muscle complex run perpendicular and
medial to the parasagittal fibers. The crossing of the muscle
complex fibers with the parasagittal fibers represents
the anterior and posterior limits of the new anus. These
limits can be seen most clearly with the use of an electrical
stimulator. The levator muscle, which lies deep in the
incision, is then divided in the midline. The higher the
malformation, the deeper the levator muscle is found.
The levator muscle fibers run parallel to the skin incision.
Levator muscle and muscle complex are in continuum.

17
510 Anorectal malformations

18 When all muscle structures have been divided, the

rectum can be seen. In cases of rectourethral bulbar
fistulas, the distal rectum is prominent and it almost
bulges into the wound. In cases of rectoprostatic fistulas,
the rectum is located much higher, just under the coccyx,
and is not as prominent. In cases of rectobladderneck
fistulas, the rectum is not visible through this approach,
and searching for it risks injuring other structures.

18

19 Two silk sutures are placed in the posterior rectal

wall on both sides of the midline. The rectum is opened
between the sutures and the incision is continued distally,
exactly in the midline, down to the fistula site. Temporary
silk sutures are placed on the lateral and anterior edges of
the open posterior rectal wall for traction. One silk stitch
is placed at the location of the fistula and it will serve as a
guide to locate the fistula site after the rectum is completely
separated from the urinary tract.

19
 Operations 511

The anterior rectal wall immediately above the fistula is a
thin structure. There is no plane of separation between the
rectum and urethra in that area. A plane of separation must
be created in the common wall. Multiple 6/0 silk sutures are
placed through the rectal mucosa immediately above the
fistula in a semi-circle. The rectum is then separated from
the urethra, creating a submucosal plane for approximately
5–10 mm above the fistula site until the rectum is free from
its adherence to the periurethral tissue. A typical areolar
plane is then seen. During this delicate dissection, it is very
helpful to dissect the rectum laterally first, very close to
the rectal wall and then anteriorly, until both dissections
(lateral and medial) meet, separating the rectum completely
from the urinary tract. Once the rectum is fully separated,
a circumferential perirectal dissection is performed to gain
enough rectal length to reach the perineum. The rectum is
surrounded by a conspicuous whitish fascia. The dissection
must be performed between this fascia and the rectal wall
to avoid damage to the innervation of the bladder and
genitalia.
In cases of a fistula opening into the bulbar urethra,
the dissection necessary to pull the rectum down to the
perineum is minimal, whereas in cases of prostatic fistula
the perirectal dissection is considerable. In both cases,
enough rectal length must be gained in order to perform a
comfortable, tension-free anastomosis between the rectum
and the skin. As traction is exerted on the mobilized
rectum, some grooves can be seen in the rectal wall, which
demonstrate the tension lines that hold the rectum. These
indentations are vessels that must be divided. For a high
prostatic fistula, a laparoscopic approach may be helpful,
similar to that described for rectobladderneck fistula.

20 Once the rectum has been fully mobilized, a decision

must be made concerning the need for tailoring of the
rectum. The size of the rectum can be evaluated and
compared with the available space so that its size matches
the limits of the sphincter. If necessary, the rectum can
be tapered by removing part of the posterior wall, and
reconstructing it with two layers of interrupted, long-
lasting, absorbable sutures. We prefer a braided suture
of 5/0 and 6/0. The tapering of the rectum must always
be done on the posterior rectal wall. The part of the
intestine that will be adjacent to the closed rectourethral
fistula must be normal rectal wall to avoid a recurrent
fistula. The anterior rectal wall is often damaged to
some degree as a consequence of the separation between
rectum and urethra. To reinforce this wall, both smooth
muscle layers can be sutured together with interrupted 5/0
absorbable suture. The rectourethral fistula is then sutured
longitudinally with a single layer of long-term, absorbable
sutures.

20
512 Anorectal malformations

21a,b The rectum is placed in front of the levator muscle

and within the limits of the muscle complex and external
sphincter (illustration a). The electrical stimulator is
helpful in identifying the limits of these muscle structures.
Anterior and posterior limits of the external sphincter are
temporarily marked with silk sutures. In cases in which
the incision is extended anteriorly beyond the limits of the
sphincter, it is necessary to repair the anterior perineum
with interrupted, long-term, absorbable sutures to bring
together both anterior limits of the external sphincter. 21a
Long-term absorbable sutures are placed on the posterior
edge of the levator muscle. The posterior limit of the
muscle complex must also be reapproximated behind the
rectum (illustration b). These sutures should include part
of the rectal wall in order to anchor it and help to avoid
rectal prolapse.

21b

22a–d The anoplasty is performed with 16 interrupted,
long-lasting, absorbable sutures. Anoplasty sutures are
placed under slight tension, so that once cut, the anus
retracts slightly. The wound is then closed, bringing
together corresponding sphincteric structures in the
midline. Sutures used are absorbable and braided,
22a
22c
Operations 513
5/0, and 6/0, depending on the size of the child and
rectum. The incision is then covered with antibiotic
ointment.
The Foley catheter is left in place for 7 days. The patient
receives broad-spectrum antibiotics for 1 day and
prophylactic antibiotics while the Foley is in place.
22b
22d
 Operations 517

RECTOVESTIBULAR FISTULA

26 Most surgeons underestimate the complexity of this

defect. Multiple 6/0 silk sutures are placed at the edge of
the fistula in order to exert uniform traction on the rectum
to facilitate its dissection. The incision used to repair this
defect is shorter than that used to repair rectourethral
fistulas in boys. The incision continues around the fistula
into the vestibule. The sphincteric mechanism is divided in
the midline until the rectal wall is located. A characteristic
whitish fascia covers the rectum posteriorly and must be
divided. This helps to locate the plane of dissection during
mobilization of the rectum. Once the rectal wall has been
identified, a lateral dissection is performed from the
posterior midline, while placing traction on the fistula to
make the plane of dissection more obvious. It is vital to be
adjacent to the rectal wall, and clean away the thin white
fascia that envelops it. The surgeon must be in this key
plane in order to be able to mobilize the rectum.

26

The most delicate part of this dissection is the anterior
rectal wall. The rectum and the vagina share a common
wall, which is often very thin. This thin wall has no
plane of separation and the surgeon has to make two
walls out of one. This dissection is performed using
a fine needle cautery. It is continued up to the point
where rectum and vagina separate and have full-thickness
walls. A characteristic areolar tissue between the two
full-thickness walls identifies this point in the dissection.
The most common error in performing this operation
is incomplete separation of the vagina and rectum. This
may create a tense anastomosis between the rectum and
the skin, which may provoke dehiscence and recurrence
of the fistula.

27 Once the dissection has been completed, the

electrical stimulator is used to determine the limits of the
sphincteric mechanism. The anterior limit of the external
sphincter and the anterior edge of the muscle complex
are reapproximated as previously described, creating the
perineal body. The levator muscle is usually not exposed
and therefore does not have to be reconstructed. The
muscle complex is reconstructed posterior to the rectum.
The anoplasty is performed as previously described.

27
518 Anorectal malformations
RECTOVAGINAL FISTULA
Imperforate anus with a true rectovaginal fistula is extremely
rare. The term is often misused, and patients with a
rectovestibular fistula or cloaca are commonly incorrectly
described as having a rectovaginal fistula. For a patient with
cloaca that is misdiagnosed in this way, the surgeon might
repair the rectum but leave the urogenital sinus intact,
which would thereafter require a complete reoperation.
A true rectovaginal fistula requires a full posterior
sagittal incision. The operation is essentially the same as
that described for a rectovestibular fistula, except that it
is necessary to dissect much more of the rectum to gain
enough length to pull it down to the perineum.
POSTOPERATIVE CARE
Patients generally have a smooth postoperative course.
Pain is not a prominent symptom, except in those patients
who have undergone a laparotomy.
In cases of rectourethral fistula in boys, the urethral
catheter is left in place for 7 days. If the urethral catheter
is accidentally dislodged, the patient can be observed for
spontaneous voiding, which usually occurs. Attempts to
reintroduce a urethral catheter can be dangerous and must
be avoided. A suprapubic tube is a better intervention if
needed.
Intravenous antibiotics are administered for 24 hours.
An antibiotic ointment is applied to the anoplasty for 5
days. The patient is discharged after 2 days in cases of a
posterior approach without a laparotomy or laparoscopy,
and after 3–5 days in cases of an abdominal approach. The
parents are instructed to keep the incision clean, not to
wipe, and to apply antibiotic ointment for 1 week.
Two weeks after the operations, anal dilatations are
started. On the first occasion, a dilator that fits loosely into
the anus is used to instruct the parents, who must carry out
dilatation twice daily. Every week, the size of the dilator
is increased until the rectum reaches the desired size,
which depends on the patient’s age (Table 56.1). Once the
desired size is reached, the colostomy can be closed. The
frequency of dilatations may be reduced once the dilator
of desired size passes easily. This reduction should occur
according to the following schedule: at least once a day for
one month; every third day for one month; twice a week
for one month; once a week for one month; and every 2
weeks for three months.
Table 56.1 Size of dilator required in different age groups.
Age group Hegar dilator size
1–4 months 12
4–8 months 13
8–12 months 14
1–3 years 15
3–12 years 16
Over 12 years 17
After the colostomy is closed, patients often suffer
from diaper rash as a consequence of multiple bowel
movements. The number of bowel movements eventually
decreases, and patients develop their own bowel
movement pattern. This pattern has a very significant
prognostic value by six months after the closure of the
colostomy. A baby who has one to three bowel movements
each day, remains clean between bowel movements, and
pushes during each bowel movement (indicating that
there is some feeling during the defecation process) has,
in general, a good functional prognosis, and therefore is
likely to respond to toilet training. On the other hand, an
infant who passes stools constantly, without any evidence
of feeling or pushing, usually has a poor functional
prognosis and will need bowel management. In addition,
on the basis of the results obtained in the authors’ series,
it may be possible to predict the final functional result
from the precise anatomic diagnosis and the status of the
sacrum and spine. In patients with good prognosis for
bowel control (rectoperineal, vestibular, bulbar fistula,
imperforate anus without fistula, cloaca with common
channel <3 cm), constipation must be avoided and
treated early in life.
FUNCTIONAL DISORDERS AFTER REPAIR OF
ANORECTAL MALFORMATIONS
Most patients who have undergone repair of anorectal
malformations suffer from some degree of functional
disorder due to congenital deficiencies that are not
correctable.
Deficiencies in sensation
Except for patients with rectal atresia, most patients are
born without an anal canal. This means that they do not
have the exquisite sensation that normally resides in this
anatomic area. Most patients, however, still preserve a
vague sensation called proprioception, generated from
distension of the rectum, and therefore stretching of
the voluntary muscles around it. Liquid stools, which
do not distend the rectum, are not felt by most of these
patients.
Sphincteric mechanism
Anorectal malformations are represented by a spectrum
of defects. Most of these patients have a sphincteric
mechanism comprising parasagittal fibers of the external
sphincter, muscle complex, and levator muscle, with
different degrees of development, which varies from almost
non-existent muscles to an almost normal sphincteric
mechanism. Therefore, most of these patients have a
certain capacity to hold stool inside the rectum.

Coordinated rectosigmoid motility
Most patients with anorectal malformations suffer from
abnormal rectosigmoid motility. Patients who have
undergone a surgical procedure in which the rectosigmoid
colon was removed, as in older endorectal procedures,
do not have a normal fecal reservoir, but have a segment
of sigmoid or descending colon pulled down to the
perineum. They have a tendency to pass stool constantly,
similar to patients with a perineal colostomy.
On the other hand, patients who have undergone repair in
which the rectosigmoid colon was preserved (e.g. posterior
sagittal anorectoplasty, sacroperineal pull-through, or
simple anoplasty) behave as if their fecal reservoir is too
large and floppy. Clinically, this translates into varying
degrees of constipation. Mild cases of constipation can
be treated very efficiently with laxatives, and the children
usually live a normal life. Severe cases of constipation,
particularly if they are not treated properly, may lead to
fecal impaction, constant soiling, and therefore, overflow
pseudo-incontinence. This constipation seems to be more
severe in patients with lower defects. An ectatic distended
colon (sometimes associated with a loop or transverse
colostomy) leads to megarectosigmoid and eventually
provokes severe constipation.
COMPLICATIONS
Wound infection
Wound infections and mild dehiscences of the posterior
sagittal incision can occur. The infection usually affects
only the skin and subcutaneous tissue, sometimes can be
resutured, and will heal with local care.
Anal strictures
An anal stricture usually requires a secondary
operation. A clear correlation exists with intraoperative
devascularization of the distal rectum or excessive tension
on the anoplasty.
Furthermore, if the protocol of dilatations is not
followed, an anal stricture can occur. Such a stricture
is only a ring-like fibrous band at the mucocutaneous
junction, which is easily treated, and is different from a
long, narrow stricture secondary to ischemia.
Before the advent of the posterior sagittal approach, most
surgeons would try to create a very large neoanus to avoid
strictures and cumbersome anal dilatations. With new
concepts based on objective knowledge of the sphincteric
mechanism obtained by direct visualization, the surgeon
should create an anus no bigger than the size of the external
sphincter. The new anus is surrounded by voluntary muscle
that keeps it closed. If it is not dilated, the rectum will heal
narrow or closed. Therefore, anal dilatations are necessary.
Complications 519
Constipation
This is the most common functional disorder observed
in patients with anorectal malformations, particularly
prevalent in lower malformations; rectoperineal, bulbar,
and vestibular fistulas.
Transient femoral nerve pressure
Excessive pressure on the groin during a posterior sagittal
operation can lead to this problem, which can be avoided
by adequate cushioning of the patient’s pelvis while in the
prone position.
Neurogenic bladder
Difficulty voiding after a posterior sagittal approach should
occur only in patients with a very abnormal or absent
sacrum or with a tethered cord or myelomeningocele, in
whom the presence of a preoperative neurogenic bladder
can be predicted.
Neurogenic bladder following a posterior sagittal
approach in patients with favorable anatomy can occur
due to nerve damage during the rectal dissection, where
the surgeon does not follow the principles of the posterior
sagittal approach and veers off the midline. In addition,
placing Weitlander’s retractors deeper than is necessary
may compress the nerves that come from the sacral area,
causing a neurogenic bladder.
Medical management for fecal incontinence
As shown in Table 56.2, there remain a significant
number of patients (approximately 25 percent) who
suffer from fecal incontinence, despite optimal anatomic
surgical reconstruction used for the repair of their
malformations. For these patients, a program of bowel
management is useful. This consists of training the
parents and children to clean out the colon once a day
with the use of enemas and to avoid bowel movements
between irrigations by adherence to a specific diet and
sometimes medication.
In addition to the over 2000 patients followed by
the authors, more than 500 patients have been referred
for management of fecal incontinence after they have
undergone an operation for imperforate anus performed
in another institution. All these patients are evaluated
clinically and undergo a contrast enema, voiding
cystourethrography, radiologic evaluation of their sacrum,
and magnetic resonance imaging of the spine and pelvis.
These evaluations allow the patients to be classified into
the following groups.
520 Anorectal malformations
Table 56.2 Clinical results in the most common defects.
Type of fistula Perineal
Total cases evaluated 39
Voluntary bowel movement (%) 100
Soiling (%) 21
Totally continent (%)a 90
Urinary incontinence (%) None
aVoluntary bowel movement and no soiling.
bPatients with absent sacrum, tethered cord, meningocele, or severe associated urologic abnormalities.
MINIMAL TO NO POTENTIAL FOR BOWEL CONTROL
These are patients who have a poor sacrum, associated
spinal problem, poor sphincters, a very high defect, and
a poor bowel movement pattern. The best treatment for
these patients is a bowel management program. Because
of the nature of their original defect, these patients will
nearly always suffer from fecal incontinence. Therefore,
time should not be wasted on biofeedback programs,
behavior modifications, or reoperations, and perhaps
more importantly, false expectations should not be
created for the family. The bowel management program
allows the patient to remain clean all day in order to
be socially accepted, and is successful in 95 percent of
patients.
This group is usually divided into two categories:
1. Constipated. These patients have undergone a
procedure in which the rectum was preserved, as in
anoplasties, a sacroperineal approach or posterior
sagittal approach. This group of patients tends
to suffer from constipation in addition to their
fecal incontinence, contrast study shows a mega-
rectosigmoid. Management consists of the use of
enemas with volumes of fluids large enough to clean a
large rectosigmoid colon (400–750 cc of saline usually
with added glycerin, castile soap, and/or phosphate).
It is not usually necessary to use any kind of diet or
medication, because the constipation contributes to the
patients remaining completely clean between enemas.
2. Patients with a tendency to have loose stool. This
group of patients has undergone a type of procedure
in which their original rectosigmoid colon was
resected, as in the Kiesewetter, Soave, or Rehbein
types of operations. They have a natural tendency
to suffer from the constant passing of liquid stools.
A contrast enema shows that the colon runs straight
from the splenic flexure down to the anus, and
colonic haustrations are apparent all the way down to
the perineum. They never suffer from constipation.
This is the group that is most difficult to keep clean.
Management consists of a small enema, a very strict
constipating diet and agents that slow colonic motility,
such as loperamide and water-soluble fiber. Patients in
whom colonic motility fails to slow down are the rare
candidates for a permanent colostomy.
Vestibular Bulbar Prostatic Bladderneck
97 83 71 29
92 82 73 28
36 54 77 90
71 50 31 13
4b 2b 8b 18b
POTENTIAL FOR BOWEL CONTROL
These patients were born with a favorable type of defect
(rectovestibular fistula, rectoperineal fistula, rectourethral
bulbar fistula), a good sacrum, a normal spine, and a good
sphincteric mechanism, and underwent an operation that
placed the rectum in the correct position. In addition, these
patients have a good bowel movement pattern. They can
undergo a behavior modification program to train them
to have voluntary bowel movements, but they often need
additional help with laxatives to treat their constipation.
CANDIDATES FOR A REOPERATION
These patients were born with a favorable type of defect, good
sacrum, normal spine, and good sphincteric mechanism,
and yet they underwent an operation that placed the
rectum in the wrong place or left it strictured or prolapsed.
Repositioning the rectum within the limits of the sphincteric
mechanism may improve the functional result.
CANDIDATES FOR A SIGMOID RESECTION
There is a subgroup of patients who were born with a defect
that has a good prognosis and who underwent a technically
good operation but suffer from severe constipation and
severe megasigmoid colon. Often such patients’ constipation
was not aggressively managed postoperatively as an infant.
They are incapable of emptying the rectosigmoid colon
and suffer from chronic soiling and overflow pseudo-
incontinence. Prior to considering a sigmoid resection,
a laxative test is performed. The test is carried out over
a period of several days. First, the colon is disimpacted
with enemas. This process is radiologically monitored.
Then the laxative requirement is determined by trial and
error. Once the right dose is reached, as demonstrated by
an abdominal radiograph that shows a clean colon, the
patient’s ability to have bowel control can be determined.
If the patient is continent, but in order to remain clean
requires an enormous dose of stimulant laxatives, a
sigmoid resection, preserving the rectum and creating an
anastomosis between the descending colon and the rectum
above the peritoneal reflection, can reduce that laxative
requirement dramatically. If the patient is incontinent, a
bowel management regimen is implemented and a sigmoid
resection is contraindicated, because in an incontinent
patient, looser stools are much more difficult to manage.

FURTHER READING
Bischoff A, Tovilla M. A practical approach to the
management of pediatric fecal incontinence.
Seminars in Pediatric Surgery 2010; 19: 154–9.
Falcone RA, Levitt MA, Peña A, Bates MD. Increased
heritability of certain types of anorectal malformations.
Journal of Pediatric Surgery 2007; 42: 124–8.
Hong AR, Rosen N, Acuña MF et al. Urological injuries
associated with the repair of anorectal malform-
ations in male patients. Journal of Pediatric Surgery
2002; 37: 339–44.
Further reading 521
Peña A, Grasshoff S, Levitt MA. Reoperations in anorectal
malformations. Journal of Pediatric Surgery 2007; 42:
318–25.
Peña A, Migotto-Krieger M, Levitt MA. Colostomy in
anorectal malformations a procedure with serious
but preventable complications. Journal of Pediatric
Surgery 2006; 41: 748–56.
Shaul DB, Harrison EA. Classification of anorectal
malformations – initial approach, diagnostic tests,
and colostomy. Seminars in Pediatric Surgery 1997;
6: 187–95.