IMPERFORATE ANUS 431

complement poorly, if at all, and unlike IgE, it does not Further Reading
promote the release of mediators of allergic in¯amma-
Brandtzaeg, P., Farstad, I. N., Johansen, F.-E., Morton, H. C.,
tion. Thus, IgA antibodies can bind to ever-present an- Norderhaug, I. N., and Yamanaka, T. (1999). The B-cell system
tigens, such as those of food and the intestinal ¯ora, of human mucosae and exocrine glands. Immunol. Rev. 171,
without provoking in¯ammation. 45ÿ87.
Lamm, M. E. (1997). Interaction of antigens and antibodies at
mucosal surfaces. Annu. Rev. Microbiol. 51, 311ÿ340.
Ogra, P. L., Mestecky, J., Lamm, M. E., Strober, W., Bienenstock, J.,
See Also the Following References and McGhee, J. R. (eds.) (1999). ``Mucosal Immunology,'' 2nd
Endomysial and Related Antibodies  Lymphocytes Ed. Academic Press, San Diego.

Imperforate Anus
ROBERT W. CHANG, STEVEN M. ANDREOLI, AND MORITZ M. ZIEGLER
Children's Hospital Boston

appendicostomy An opening that affords access to the large These defects are frequently associated with lifelong
intestine through the tip of the vermiform appendix. It is debilitating sequelae such as fecal and urinary inconti-
usually attached to the anterior abdominal wall and is nence and sexual inadequacy.
used for irrigation and bowel management in some older The pathogenesis of imperforate anus evolves as
patients with bowel dysfunction following imperforate
early as the sixth week of gestation when the urorectal
anus repair.
septum migrates caudally to divide the cloaca into the
cloaca A common channel for fecal, urinary, and sexual
material passage, typically seen in lower vertebrates. In urogenital sinus anteriorly and the anorectal canal pos-
humans, it denotes an embryologic abnormality in which teriorly. Failure of the urorectal septum to form results
the terminal hindgut fails to divide into the rectum, in an abnormal connection between the gastrointestinal
bladder, and genital primordium. and genitourinary tracts, gender differences notwith-
®stula An abnormal communication between two or more standing. The development of the perineum can also
epithelial-lined organs or between an epithelial-lined in¯uence the positioning of the anal opening.
organ and the surface of the body. Imperforate anus has long been recognized as a sur-
gically correctable defect. In 1835, Amussat sutured the
Imperforate anus encompasses a wide range of congenital rectal wall to the skin edges, which likely constituted
anorectal malformations involving atresia of the anal the ®rst known ``anoplasty.'' For the ®rst half of the
canal. The spectrum includes simple perineal ®stulas to 20th century, perineal anoplasty without colostomy
the complex cloacal malformations. Each anatomic anom- for ``low'' malformations and newborn colostomy plus
aly requires specialized treatment and portends an indi- abdominoperineal resection for ``high'' malformations
vidual outcome. were preferred treatments. In 1953, Stephens performed
the ®rst objective study of human specimens. He pro-
posed an initial sacral approach followed by abdomino-
perineal resection when necessary. The purpose of this
INTRODUCTION approach was to preserve the puborectalis sling, which
Imperforate anus and associated anorectal malforma- was thought to be a key determinant in a successful
tions are well-known entities in pediatric surgery outcome. Many of the surgical developments of the
and pose a signi®cant challenge to the clinician. following period held to these same ideals.

Encyclopedia of Gastroenterology Copyright 2004, Elsevier (USA). All rights reserved.

432 IMPERFORATE ANUS

Pena and colleagues performed the ®rst posterior

sagittal approach for anorectal malformations in 1980
(posterior sagittal anorectoplasty, or PSARP). Its de-
scription, published in 1982, has been time-tested
and has vastly changed the treatment for this group
of anatomic defects. This technique allowed direct ex-
posure of the anatomy and enabled correlation of per-
ineal appearance with operative ®ndings. This has led to
a terminology and classi®cation scheme with prognostic
importance.
Imperforate anus is seen in 1 in every 4000ÿ
5000 newborns. The frequency of this defect is slightly
higher in males, with the most common defect being an
imperforate anus with a rectourethral ®stula. In females,
the most common defect is a rectovestibular ®stula.
Congenital absence of a ®stula is rare, seen in only
5% of all cases. In families with a newborn with an
imperforate anus, the risk of having a second child
with this af¯iction is approximately 1%.
FIGURE 1 Low defect, perineal ®stula. Reprinted from
Pena, A. (1992). ``Atlas of Surgical Management of Anorectal
TYPES OF DEFECTS Malformations.'' Springer-Verlag, New York, with permission.
Historically, anorectal malformations were classi®ed Copyright Springer-Verlag.
using three main descriptors: low, intermediate, and
high. These terms loosely referred to the level of rectal common wall. Between the often distended rectum and
®stula. These terms were not standardized and, more the skin lies a band of striated voluntary muscle. Lower
importantly, did not address treatment implications or urethral ®stulas are associated with higher quality mus-
outcome. With the development of the posterior sagittal culature, a well-developed sacrum, and a prominent
approach by Pena and colleagues, a new classi®cation
scheme has been popularized. It offers anatomic de-
scriptors based on gender, is based on therapeutic
and diagnostic facts, and is of prognostic signi®cance.

Male
Perineal Fistula
In this defect, the lowest part of the rectum is ante-
riorly displaced (see Fig. 1). The ®stula most often opens
onto the perineum anterior to the location of the ``nor-
mal anus,'' somewhere along the midline raphe, at the
scrotum, or even at the base of the penis. The diagnosis
is made primarily by perineal inspection. The descrip-
tors ``anal dimple,'' ``bucket handle,'' and ``anal mem-
brane'' are used to refer to the external appearance of
the perineal area. These patients require no further test-
ing. One hundred percent of these patients achieve sat-
isfactory bowel control after repair.
Rectourethral Fistula
This is the most frequent variant seen in males (see FIGURE 2 Rectourethral bulbar ®stula. Reprinted from
Figs. 2 and 3). The ®stula is located at or near the bulbar Pena, A. (1992). ``Atlas of Surgical Management of Anorectal Mal-
region of the urethra or near the prostatic urethra. formations.'' Springer-Verlag, New York, with permission. Copy-
Immediately superior, the rectum and urethra share a right Springer-Verlag.
IMPERFORATE ANUS 433

Female
Perineal Fistula
From a therapeutic and prognostic standpoint, this
defect in females parallels the male situation (see Fig. 5).
The rectum is located well within the sphincter mech-
anism and the rectum and vagina are well separated,
with the anus being ``anterior'' to its normal location.
Vestibular Fistula
In this defect, the bowel opens immediately behind
the hymen in the vestibule of the genital system (see
Figs. 6ÿ8). Immediately abovethe ®stula, the rectum and
vagina are separated by a thin, common wall. This con-
dition is often initially misdiagnosed as a rectovaginal
®stula, which is much more rare, at 1% of all defects. The
correct diagnosis is usually derived by meticulous in-
spection of the newborn genitalia. These patients usu-
ally have well-developed muscles and a normal sacrum.
Anorectal Agenesis without Fistula
FIGURE 3 Rectourethral prostatic ®stula. Reprinted from
Pena, A. (1992). ``Atlas of Surgical Management of Anorectal Mal- This very unusual defect carries the same implica-
formations.'' Springer-Verlag, New York, with permission. Copy- tions for treatment and outcome as in males, close to
right Springer-Verlag.
100% incidence of bowel control.

anal dimple. Patients with this defect can frequently be

observed to pass meconium or air (pneumaturia)
through the urethra, an unequivocal sign.

Rectovesical Fistula
In this higher level defect, the rectum opens at the
bladder neck (see Fig. 4). These patients have poor
prognoses due to poor development of the levator
muscle, muscle complex, and external sphincter. Ten
percent of males with imperforate anus have this variant.

Anorectal Agenesis
This rare defect carries a good prognosis due to a
well-developed sacrum and good muscle structures.
The rectum usually ends 2 cm from the perineal skin.
Approximately half of these patients suffer from Down's
syndrome. This fact does not interfere with the high
likelihood of achieving bowel control.

Rectal Atresia
This type is seen in approximately 1% of all anorectal
malformations and has an excellent prognosis. The
lumen of the rectum may be totally or partially inter-
rupted. Patients usually possess all of the necessary FIGURE 4 Rectobladder-neck ®stula. Reprinted from Pena, A.
elements to be continent. Usually, the anal canal is (1992). ``Atlas of Surgical Management of Anorectal Malforma-
well developed and normal sensation is observed in tions.'' Springer-Verlag, New York, with permission. Copyright
the anorectum. Springer-Verlag.
434 IMPERFORATE ANUS

with imperforate anus and small-looking genitalia (see

Fig. 9). In this group of anomalies, the rectum, vagina,
and urinary tract meet and fuse into a single common
channel. Careful inspection reveals a single perineal
ori®ce usually hidden behind the labia. The length of
the common channel varies, a factor that has prognostic
signi®cance. A common channel longer than 3.5 cm
usually represents a complex defect and implies dif®cult
mobilization of the vagina. A common channel less than
3.4 cm usually signi®es that repair can be accomplished
without need for laparotomy (PSARP only). There are
numerous other complicated variants of this defect that
pose signi®cant challenges to the pediatric surgeon.

ASSOCIATED ANOMALIES
The two main associated abnormalities usually encoun-
tered with anorectal defects involve the skeletal and
genitourinary systems. Spinal or sacral deformities
FIGURE 5 Perineal (cutaneous) ®stula. Reprinted from seem to be frequently related to anorectal malforma-
Pena, A. (1992). ``Atlas of Surgical Management of Anorectal Mal- tions. These occur in approximately one-third of all
formations.'' Springer-Verlag, New York, with permission. Copy- patients and include absence or asymmetry of vertebrae
right Springer-Verlag.
or accessory or hemi-vertebrae. Usually, one missing
Persistent Cloaca vertebra does not worsen outcome. However, more
than two absent sacral vertebrae is a prognostic sign
This condition is usually a clinical diagnosis and for poor continence and urinary control. A radiographic
should be strongly suspected in a female newborn

FIGURE 6 Vestibular ®stula. Reprinted from Pena, A. (1992). FIGURE 7 Low rectovaginal ®stula. Reprinted from Pena, A.
``Atlas of Surgical Management of Anorectal Malformations.'' (1992). ``Atlas of Surgical Management of Anorectal Malforma-
Springer-Verlag, New York, with permission. Copyright tions.'' Springer-Verlag, New York, with permission. Copyright
Springer-Verlag. Springer-Verlag.
IMPERFORATE ANUS 435

PRESENTATION AND DIAGNOSIS

The ®rst step in management is to determine whether
the newborn has a life-threatening anomaly. Next is the
decision to perform a colostomy before de®nitive repair
is addressed. Perineal inspection is usually suf®cient to
make the initial decision regarding establishment of a
protective colostomy in up to 80% of boys. Initial diag-
nostic measures are essentially the same in females.
Ninety to 95% of newborn females can be diagnosed
by visual inspection alone. The presence of a single
perineal ori®ce signi®es a cloaca, which requires
emergent urinary drainage/diversion and protective co-
lostomy.
Occasionally, the diagnosis is not apparent at birth.
Final evaluation is delayed 16ÿ24 h to allow bowel dis-
tension and intralumenal pressure to increase so that air
and meconium are forced through to the distal gut and
potentially the urethra.
A prone cross-table lateral X ray is then obtained.
The presence of a bowel pouch that is more than 1 cm
FIGURE 8 High rectovaginal ®stula. Reprinted from Pena, A. from the anal skin is an indication for colostomy. On
(1992). ``Atlas of Surgical Management of Anorectal Malforma- occasion, perineal ultrasound is used to de®ne this level.
tions.'' Springer-Verlag, New York, with permission. Copyright The diagnostic workup must also include a high index of
Springer-Verlag. suspicion for esophageal atresia, which exists in 5% of
patients. The completely diverting colostomy provides
bowel decompression and urinary tract protection
sacral ratio has been developed for objective evaluation.
It is calculated from a lateral ®lm: a line drawn from
upper and lower borders of the iliac crest is compared
with a line drawn from the lowest part of the iliac crest to
the lowest point on the sacrum. A ratio is made of this
upper to lower portion, with the normal ratio being 0.7;
poor prognosis for bowel control is predicted in patients
with a ratio less than 0.3.
Concomitant genitourinary (GU) defects are seen in
20 to 54% of patients with anorectal malformations. The
``higher'' the malformation, the more frequent the asso-
ciation. Patients with rectovesical ®stulas have a 90%
incidence of a GU defect compared to a less than 10%
incidence in perineal defects. Vesicoureteral re¯ux and
hydronephrosis are the most common abnormalities,
but other ®ndings such as absent, dysplastic, or
horseshoe kidneys must also be considered. Hydro-
nephrosis, urosepsis, and metabolic acidosis are main
sources of morbidity and mortality in affected new-
borns. Thus, a urologic examination, though always
required, has a much higher priority in patients with
higher defects. This includes a renal and abdominal
ultrasound to look for hydronephrosis or other obstruc- FIGURE 9 Typical cloaca. Reprinted from Pena, A. (1992).
tive processes. A voiding cystourethrogram may be ``Atlas of Surgical Management of Anorectal Malformations.''
useful to localize the level of rectourethral ®stula in Springer-Verlag, New York, with permission. Copyright Springer-
males and it may also diagnose vesicoureteral re¯ux. Verlag.
436 IMPERFORATE ANUS

endorectal dissection to avoid damaging the pelvic

nerves. The standard of care today is the posterior
sagittal anorectoplasty (PSARP) mentioned above (see
Figs. 10ÿ13). All anorectal malformations can be
corrected by this approach with or without laparotomy.
The patient is placed in the prone position with the
pelvis elevated. The use of the electric muscle stimulator
to elicit muscle contraction is essential; these contrac-
tions serve as a guideline for operating in the midline,
leaving an equal amount of muscle on both sides. This is
based on the principle that no important nerves or ves-
sels cross the midline. In addition, a ®ne midline fascia
divides the anatomy in two parts. As part of the PSARP,
the voluntary striated muscles from both sides are sep-
arated rather than divided. This allows exposure and
reduces the likelihood of damage to adjacent structures
such as the vas deferens, ectopic ureters, prostatic tissue,
urethra, and seminal vesicles. The PSARP proceeds
by identifying, opening, and then dividing the
rectourethral ®stula followed by a ``pull-through'' of
the terminal rectum into the normal, newly created
anal position. The pelvic muscle complex (levator ani
and parasagittal ®bers of the external sphincter com-
plex) is reconstructed around the rectum and a cutane-
ous anoplasty is performed where indicated by electrical
FIGURE 10 Posterior sagittal incision (for PSARP). Reprinted
from Pena, A. (1992). ``Atlas of Surgical Management of Anorectal
stimulation to complete the pull-through.
Malformations.'' Springer-Verlag, New York, with permission.
Copyright Springer-Verlag.

while waiting for the future repair. Risk of infection and

dehiscence is decreased and mechanical cleansing
is made easier. The procedure of choice is the divided
descending colostomy. The operating surgeon must
take care to provide enough length of rectosigmoid
colon for adequate mobilization in the ®nal repair. In
addition, this procedure creates an additional stoma,
which allows for an essential preoperative colostogram
to be performed. The colostogram is the most accurate
diagnostic study to determine the detailed anatomy
of these defects, particularly the level of recto-vaginal
or recto-urinary connection. De®nitive repair is usually
performed 4 to 6 weeks after colostomy placement.
Though primary neonatal repair of even ``high''
imperforate anus anomalies has been performed, avoid-
ing colostomy placement, its safety and ef®cacy are
unproven.

Surgical Considerations FIGURE 11 Incision continued through the center of the ex-
ternal sphincter showing the lowest part of the muscle complex
As mentioned above, previous corrective opera- (vertical ®bers). Reprinted from Pena, A. (1992). ``Atlas of Surgical
tions sought to preserve the puborectalis sling in Management of Anorectal Malformations.'' Springer-Verlag, New
order to preserve bowel control. Others have advocated York, with permission. Copyright Springer-Verlag.
IMPERFORATE ANUS 437

POSTOPERATIVE MANAGEMENT
Most patients who undergo operative repair for imper-
forate anus suffer from some departure from normal
bowel function. Fecal continence depends mainly on
voluntary muscle structures, sensation, and bowel mo-
tility. An intact sensory feedback mechanism as well as a
muscle contraction mechanism is necessary for the com-
plex procedure of defecation. Most imperforate anus
patients do not have the highly sensitive neural feedback
in the anal canal that normal patients do, as discrimi-
nation between liquid stool and soft fecal material is
often severely impaired. Bowel motility is perhaps the
most important factor in achieving fecal continence.
The main clinical manifestation in after PSARP is con-
stipation, af¯icting those with ``lower'' defects. Interest-
ingly, patients with the best prognosis have the highest
incidence. Constipation may be directly related to the

FIGURE 12 Divided levator muscle, muscle complex, and

coccyx. Reprinted from Pena, A. (1992). ``Atlas of Surgical Man-
agement of Anorectal Malformations.'' Springer-Verlag, New York,
with permission. Copyright Springer-Verlag.

Approximately 90% of defects in boys can be

repaired via the PSARP without opening the abdomen.
A posterior sagittal approach should never be attempted
without a technically adequate distal colostogram to
determine the exact position of the rectum and the ®s-
tula. Attempting repair without this vital information
poses signi®cant risk for potential nerve damage, dam-
age to the seminal vesicles and prostate, and bladder
denervation.
Most patients experience a smooth recovery period.
Patients are usually discharged from the hospital 3 to
4 days after PSARP, with longer stays for those who
underwent laparotomy. Two weeks after repair, the pa-
tient is brought to the of®ce, where anal dilations are
started. This is taught to the parents and is initially
performed twice a day. It is essential to have adequate
follow-up during this period as severe unmanageable
stricturing can result from inadequate dilation. Once
the rectum is dilated to the age-appropriate size, the
colostomy is closed in the third and ®nal stage.
Urinary incontinence occurs as an over¯ow phe-
nomenon in two-thirds of cloaca patients with common
channel longer than 3 cm and in 20% of patients with a
common channel 53 cm. Intermittent catheterization
usually keeps these patients dry. In males, incontinence
after imperforate anus repair usually represents inade- FIGURE 13 Anoplasty. Reprinted from Pena, A. (1992). ``Atlas
quate primary neuromuscular development, poor sur- of Surgical Management of Anorectal Malformations.'' Springer-
gical technique, or an element of nerve damage. Verlag, New York, with permission. Copyright Springer-Verlag.
438 IMPERFORATE ANUS

degree of rectal ectasia. Efforts to keep the rectosigmoid Second, for the 10% of patients who require laparotomy
as decompressed as possible from the time the colos- with PSARP, a laparoscopic approach has recently been
tomy is established result in better ultimate bowel func- proposed to reduce posterior dissection required for
tion. Creating and implementing a bowel management accurate placement of the bowel into the muscle com-
program is a trial-and-error process that must be plex. Both modi®cations have uncertain ef®cacy and
tailored to each individual. For some, obstipation is long-term data are required.
relieved by frequent enemas. In older patients who are
best managed by greater independence, appendico- See Also the Following Articles
stomy has been performed, allowing older children to
Anal Canal  Fecal Incontinence  Fistula
administer the treatments themselves. Still other pa-
tients may suffer from a hypermotility state and require
anti-motility agents. Further Reading
Georgeson, K. E. I., and Albanese, C. T. (2000). Laparoscopically
assisted anorectal pull-through for high imperforate anusÐA
OUTCOMES new technique. J. Pediatr. Surg. 35, 927ÿ931.
Pena and colleagues have published the largest series of Pena, A. (2000). Imperforate anus and cloacal malformations. In
imperforate anus cases. Of the 1192 patients, 75% had ``Pediatric Surgery'' (K. W. Ashcraft, ed.), 3rd Ed., pp. 473ÿ492.
W. B. Saunders, Philadelphia, PA.
voluntary bowel movements by the age of 3. Of these, Pena, A., and Devries, P. A. (1982). Posterior sagittal anorectoplasty:
half occasionally soil. Thus, 37.5% overall are totally Important technical considerations and new applications.
continent. Twenty-®ve percent of all patients are totally J. Pediatr. Surg. 17, 796ÿ811.
incontinent and require bowel management. Pena, A., and Hong, A. (2000). Advances in the management of
There have been two recent developments that may anorectal malformations. Am. J. Surg. 180, 370ÿ376.
Pena, A., Guardino, K., Tovilla, J. M., Levitt, M. A., Rodriguez, G.,
have bene®t. Early PSARP has been performed without and Torres, R. (1998). Bowel management for fecal incontinence
colostomy in the newborn period to allow infants to gain in patients with anorectal malformations. J. Pediatr. Surg. 33,
the experience of normal defecation without colostomy. 133ÿ137.