Overview Anorectal malformations encompass the spectrum of anal atresia and stenosis, with an incidence of

approximately 1â5000 live births worldwide. Approximately one

third of patients have isolated lesions, but two thirds of
patients are affected by other abnormalities encompassing the
gastrointestinal tract and multiple other systems. Approximately
95% of patients have a fistula to the urethra (males),
vagina (females), or the perineum; however, 95% of patients
with Down syndrome and anorectal malformation have
no fistula.9
Anatomically, anorectal malformations are classified as
high, intermediate, or low lesions, depending on whether the
atresia lies above or below the levator sling. Some authors
object to this classification because the anomaly is a spectrum, rather than three separate and distinct types. The
classification
system of Levitt and Peña (Table 106-1) provides both prognostic
information and implications for optimal surgical management.
9 These authors note that girls with high lesions with
a high rectovaginal fistula who later present with a persistent/
unrepaired urogenital sinus abnormality actually represent
girls with a persistent cloaca, which are classified by the
length of the persistent cloacal canal.10
Rectal atresia often is discussed among the anorectal malformations,
although patients with rectal atresia have a normal
anal canal and external physical findings. The rectum is atretic
1 to 2╯cm above the anus.10
Etiology Anorectal atresia with rectourethral or rectovaginal
fistulas may be the result of failure of the urorectal septum
to descend to the cloacal membrane and the eventual site of
the perineal body; if the cloaca is too small, the hindgut
may then terminate anteriorly, entering either the urethra in the male or the vagina in the female. Rectoanal atresias
are thought to be related to vascular accidents, similar to
the atresias that occur in the small bowel and colon. Imperforate
anus is due to failure of breakdown of the anal
membrane.11
No single genetic abnormality is associated with anorectal
malformations. The most common chromosomal abnormalities
are trisomy 21 and a microdeletion at chromosome
22q11.2, although abnormalities in multiple chromosomes
have been identified.12 Approximately 15% of patients with
rectovestibular or rectoperineal fistulas, which are indicative
of low lesions, have a positive family history for anorectal
malformations. Genetic studies in both animals and humans
have implicated defects in the sonic hedgehog, Wnt5a, and
Skt genes. These studies suggest that the pathogenetic mechanisms
of high and low fistulas differ and that fistula formation
may be due to a genetic mutation rather than obstruction.
Clinical Manifestations Anorectal malformations are clinically
apparent at birth, with the exception of patients with rectal
atresia, who have a normal external appearace. Physical
examination may reveal a perineal or vestibular fistula,
although the possibility of such a fistula is best evaluated after
24 hours, because meconium may not appear in the perineum
before this time. If fecal material appears in the urine, a rectourethral
fistula may be inferred. Patients who demonstrate
a “flat bottom” (i.e., the buttock crease is not visible) have
poor development of pelvic musculature and a more guarded
prognosis.9 Girls with a single perineal orifice have a cloacal
malformation (Fig. 106-2).
The best known group of anomalies associated with anorectal
malformations is the VACTERL association (vertebral
anomalies, anal atresia, cardiac abnormalities, esophageal
atresia with or without tracheoesophageal fistula, and renal
and limb abnormalities). Associated genetic syndromes include into the rectal pouch after a colostomy often is
successful in
outlining fistulas to the bladder (Fig. 106-3, D) or urethra
(Fig. 106-3, E). Occasionally, gas may outline some of the
pertinent anatomy (e-Fig. 106-4).
Ultrasound also is used to evaluate the distal position of
the rectum (Fig. 106-5). The meconium in the pouch allows
easy visualization of the distal rectum; however, changes in
apparent position with straining make it somewhat challenging.
Measurements of 10╯mm •} 4 correlate with a low lesion,
whereas measurements of 24 •} 6 tend to correlate with
intermediate and high lesions.15 Ultrasound can identify the
puborectalis musculature; the presence of this musculature
correlates with low-type lesions, whereas its absence correlates
with high-type lesions.16
Magnetic resonance imaging (MRI) also has been used to
identify the internal anatomy. High field strengths, small field
of view, and sequences without fat suppression, which
increase the conspicuity of the muscles of the pelvic floor,
are helpful in visualizing the position of the distal rectal
pouch with respect to the levator mechanism.17 MRI also can
be used to evaluate the rectum and levator sling after surgery
(Fig. 106-6).
Patients with rectal atresia who have normal external
anatomy are evaluated with contrast enema. The enema demonstrates
a very short distal rectum that terminates blindly
(e-Fig. 106-7).
Treatment The treatment of anorectal malformations is surgical
but varies with the level and complexity of the lesion.
Most boys can undergo repair with a posterior sagittal
approach alone, although some with a high lesion also will
require an abdominal approach to mobilize a very high
rectum. In girls, 30% of cloacas need to be repaired through
an abdominal approach. Babies with rectal atresia typically
undergo an initial colostomy, with later anastomotic repair
of the atretic rectum with the anal canal.10