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182 Neurogenic Bladder
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and rectum share similar innervation pathways
via the sacral nerve roots (S2–S4).
For children experiencing diculty with evacuation the initial treatment options include increasing dietary ber, fecal soeners, bulking agents
such as polyethylene glycol (MiraLAX), oral laxatives (bisacodyl), and suppositories. More active
measures include conventional enemas, with water
or saline- with or without irritant additives to stimulate defecation. Commercially available rectal
washout systems (e.g. Peristeen) are also available.
Alternatively, enemas can be administered into the
proximal c olon v ia a catheterizable cha nnel (appendicocecostomy) or indwelling caecostomy tube.
First described by Malone, this technique (commonly known as the ACE procedure– antegrade
continence enema) has made an important contribution to the management of neuropathic bowel
dysfunction. Complications of the ACE procedure include stomal stenosis and false passage.
For many spina bida patients (particularly those
with physical disabilities, the practical diculties surrounding the independent management of
the neuropathic bowel are oen more challenging
than their neuropathic bladder.
KEY POINTS
●
Children with neurogenic bladder require
life-long urologic monitoring because urinary tract function can change with time,
with adverse consequences for the upper
urinary tract and quality of life.
●
Eighty percent of patients with a neurogenic bladder will require some form of
catheterization (usually clean intermittent catheterization) to ensure eective
bladder emptying. Depending on their
type of neurogenic bladder, CIC may
also enable them to achieve a socially
acceptable degree of urinary continence.
●
e urinary tract should be regularly
monitored with regular renal and bladder ultrasound scans and a baseline
urodynamic study should be performed
in infancy. ereaer, urodynamic studies can either be performed on a regular
(e.g. annual) basis or more selectively
according to clinical indications.
●
Surgical intervention is oen necessary
to safeguard renal function, achieve a
socially acceptable degree of urinary
continence and provide an improved
quality of life. When considering whether
to recommend surgery and when selecting the most appropriate procedure(s),
clinicians should take account of any co
morbidities and the potential long-term
consequences of surgery.
SUGGESTED READING
Austin PF, Bauer SB, Bower W, et al: The stan-
dardization of terminology of lower urinary
tract function in children and adolescents:
update report from the Standardization
Committee of the International Children’s
Continence Society. J Urol 2014; 191:
1863–1865.e13.
Higuchi TT, Granberg CF, Fox JA, et al:
Augmentation cystoplasty and risk of neoplasia: fact, ction and controversy. J Urol
2010; 184: 2492–2496.
Husmann DA: Long-term complications follow-
ing bladder augmentations in patients with
spina bida: bladder calculi, perforation of
the augmented bladder and upper tract
deterioration. Transl Androl Urol 2016; 5:
3–11.
McGuire EJ, Woodside JR, Borden TA, et al:
Prognostic value of urodynamic testing in
myelodysplastic patients. J Urol 1981; 126:
205–209.
Routh JC, Cheng EY, Austin JC, et al: Design
and Methodological Considerations of the
Centers for Disease Control and Prevention
Urologic and Renal Protocol for the
Newborn and Young Child with Spina Bida.
J Urol 2016; 196: 1728–1734.
Rove KO, Brockel MA, Saltzman AF, et al:
Prospective study of enhanced recovery
after surgery protocol in children undergoing reconstructive operations. J Pediatr Urol
2018; 14: 252.e1–252.e9.
Urologic Anomalies in Anorectal
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Malformations and Renal Ectopia
SARAH L HECHT and DUNCAN T WILCOX
Topics covered
14
Classication and workup of anorectal
anomalies
Associated anomalies – urogenital, spinal,
syndromes
Lower urinary tract dysfunction
ANORECTAL ANOMALIES
Anorectal anomalies comprise a spectrum of congenital malformations in which the anus fails to
open normally on to the perineum. At one end of
this spectrum are minor anomalies in which the
anal canal is present but the anus is anteriorly displaced or covered by perineal skin. With severe malformations, the rectum fails to reach the perineum
and instead connects to the genitourinary tract.
Incidence and Etiology
Anorectal malformations occur in approximately
1 in 5000 live births, with a slight male to female
preponderance of 3 to 2. e embryological cause
is incompletely understood but involves failed
division of the primitive cloaca. More recent
studies indicate that subdivision of the cloaca is a
Outcomes
Renal function
Continence
Psychosexual
Renal ectopia
largely passive process related to the “unfolding”
of the caudal body axis.
Genetic determinants of anorectal anomalies
are similarly complex and poorly understood. It
is unlikely that the varied spectrum of anorectal
malformations will prove to be the outcome of a
simple gene mutation, although knockouts of certain genes including ephrin B and Sonic Hedgehog
do lead to anorectal anomalies in mice. A high
incidence of anorectal malformations has been
described in patients with chromosomal abnormalities, such as Down syndrome, trisomy 18, and
cat eye syndrome. Various teratogens have also
been associated with anorectal malformations.
Classication
e earliest classication divided anorectal malformations into “high” and “low” types based on
183
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Table 14.1 Peña classication of anorectal
malformation
Male Female
Rectovesical stula Cloaca
Rectourethral stula >3 cm common channel
Prostatic <3 cm common channel
Bulbar Rectovestibular stula
Imperforate anus
(no stula)
Perineal stula
whether the rectum terminated above or below
the levator musculature. A more detailed classication system is based on the location of the rectal
stula. (Table 14.1)
Perineal stulae represent minor defects in
which the rectum opens anteriorly to the center
of the anal sphincter. e orice is usually stenotic, and the sphincter complex is intact.
Imperforate anus without stula is rare –
except in infants with Down syndrome, in whom
most anorectal malformations are of the imperforate anus type. In such cases there is no stula,
just a blind-ending rectum that is usually located
within 2 cm of the perineal skin. e sacrum is
usually well formed and there is a functional anal
sphincter complex (Figure 14.1).
A recto-vestibular stula is the most common
defect in girls. e rectum opens by a narrowed
connection with the vestibule of the vagina, usually at the posterior fourchette.
Figure 14.1 Characteristic appearance of a
perineum in an infant with a low anorectal
anomaly. Note the distinct dimple at the site
where the anus should be.
Figure 14.2 Perineum of male infant with a
high anorectal malformation with absent anus.
Note area of decreased pigmentation at the site
where the anus should be.
Rectourethral stulae are the most common
defects in males. ere are two types. In the bulbar type the rectum opens into the anterior (bulbar) urethra whereas in the prostatic type the
rectum opens into the posterior (prostatic) urethra.
Prostatic recto urethral stulae are more severe
malformations and are accompanied by a higher
incidence of sacral dysplasia and poor anal sphincter musculature.
Rectovesical or recto-bladder neck stulae
represent the most severe form of high anorectal
malformations in boys and are typically associated with sacral dysplasia, abnormal pelvic oor
musculature, and a poor anal sphincter complex.
is type of malformation is also accompanied
by a higher incidence of other coexisting congenital anomalies (Figure 14. 2).
In a persistent cloacal malformation the
vagina, rectum, and urethra are combined into
a single common channel. In the case of vaginal or uterine duplication, the rectum opens in
the midline at the conuence of the Müllerian
structures. Patients with a long common channel (>3 cm) are more likely to have sacral dysplasia and additional congenital anomalies, poor
rectal and urinary sphincter musculature. ese
patients may require more complex surgical
reconstruction including vaginal reconstruction
(Figure 14.3).
Associated congenital anomalies / Upper Urinary Tract Anomalies 185
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Figure 14.3 Cloacal anomaly with single peri-
neal orice draining the urinary, genital, and
lower gastrointestinal tracts in a female infant.
ASSOCIATED CONGENITAL
ANOMALIES
Associated Syndromes
VACTERL
VACTERL is an acronym for vertebral anomalies,
anorectal anomalies, cardiac anomalies, tracheoesophageal stula, renal anomalies, and limb
anomalies. Most cases are sporadic rather than
hereditary. Not all components of the VACTERL
association are expressed in every patient. e
most common are vertebral, anorectal, and renal
abnormalities.
Caudal regression syndrome
Caudal regression syndrome, also termed sacral
agenesis, results from failure of formation of part
or all of the coccyx, sacrum, and occasionally
the lumbar spine and their corresponding spinal
cord segments. It is commonly associated with
anorectal malformations (27–48%) and genitourinary anomalies. Caudal regression syndrome
is strongly associated with maternal diabetes;
mothers with insulin dependent diabetes are
200–400 times more likely to have a child with
caudal regression syndrome than nondiabetic
mothers (Fig ure 14.4).
e close embryologic association of the developing anorectal, genital, and urinary systems
explains the high incidence of genitourinary
anomalies seen in patients with anorectal malformations (Ta ble 14.2).
Table 14.2 Other anomalies associated with
anorectal malformations
Anomaly Incidence (%)
Vertebral 25–40
Cardiac 20
Tetralogy of fallot
ASD/VSD
Gastrointestinal 15
Tracheo-esophageal stula
Duodenal atresia
Hirschsprung’s disease
Genitourinary 60
CHARGE
CHARGE is an acronym for coloboma of the eye,
heart anomalies, choanal atresia, growth retarda-
tion, genital, and ear anomalies. In one series of
32 children with CHARGE, the overall incidence
of genitourinary tract abnormalities was 69%
(Table 14 .3).
Upper Urinary Tract Anomalies
Coexisting anatomical anomalies of the upper
and lower urinary tract occur in 50–60% of
patients with anorectal malformations, the commonest being vesicoureteral reux (Figure 14.5).
e spectrum of abnormalities encountered in
one series of patients is illustrated in Table 14.4 .
In addition to structural anomalies, up to 6% of
children develop renal impairment, an incidence
which increases to nearly 50% of girls with cloacal
anomalies. Consequently, early detection of renal
impairment is an important aspect of management.
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Figure 14.4 Plain radiograph demonstrating
sacral agenesis.
Lower Urinary Tract Dysfunction
In one series, 25% of children with anorectal
malformations were found to have severe lower
urinary tract dysfunction which was primarily
Table 14.3 Genitourinary malformations in the
CHARGE association
Incidence (%)
Genital anomalies
Hypospadias/micropenis
Undescended testis
Vaginal and uterine atresia
Urinary tract anomalies
Duplex kidney
Vesicoureteral reux
Renal agenesis
Hydronephrosis
56
42
Figure 14.5 Coronal view of a distal loopagram.
Contrast passes into the bladder and shows bilateral vesicoureteral reux (grade IV on the right).
related to a sacral abnormality. e children
with severe bladder dysfunction were mostly
incontinent, and one-third had reux nephropathy. In addition, 20% of children in this series
experienced deterioration of bladder function
following surgical repair of the anorectal malformation. ese ndings highlight the importance
Table 14.4 Pattern of structural anomalies of
the urinary tract in 45 children with anorectal
malformations
Urinary anomaly Patients (n = 45)
Vesicoureteral reux 16
Hydronephrosis 6
Crossed fused ectopia 3
Dysplastic kidney 3
Bladder diverticulum 2
Renal agenesis 1
Horseshoe kidney 1
Megaureter 1
Prune-belly syndrome 1
of investigating the lower urinary tract in chil-
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dren whose anorectal anomaly is accompanied
by a sacral abnormality.
Genital Anomalies
Abnormalities of the male external genitalia are
commonly present, including undescended testes
(20%), bid scrotum (15%), and penile anomalies (25%) – including hypospadias and (less
commonly) chordee, epispadias, penile duplication, and (rarely) absence of the vas deferens.
Anomalies of the female genital tract are less
readily apparent, but Müllerian abnormalities,
such as vaginal septa or bicornuate uterus occur
in 30–45% of girls with anorectal malformations.
Spinal Anomalies
e incidence of vertebral anomalies in children
with anorectal malformations has been reported to
be as high as 40%. Many children have associated
intraspinal pathology (e.g. tethered cord), which
can lead to urological, neurological, and orthopedic complications. It is important to identify cord
tethering at an early stage because of the possibility that early neurosurgical intervention may have
the potential to avert progressive neurological
deterioration. Routine investigation of the spine is
required in all patients with anorectal anomalies,
with more detailed investigation of the spinal cord
being performed where indicated (Figure 14.6).
Initial imaging should include both anteroposterior and lateral radiological views of the sacrum.
e most commonly identied lesions are partial
and complete sacral agenesis (Figure 14 .4).
If the sacrum is radiographically normal,
signicant intraspinal pathology is unlikely. In
infants under 4 months of age, spinal ultrasound
has proved very sensitive in identifying intraspinal anomalies, although it is less accurate than
magnetic resonance imaging (MRI).
Initial management and workup 187
Figure 14.6 Diagnostic algorithm for the
investigation of the spine in an infant with an
anorectal anomaly.
from the detection of concurrent anomalies –
which are more common in severe anorectal
malformations. Clues on prenatal ultrasound
include dilated bowel, calcied meconium, lack
of meconium in the rectum, hydrocolpos (usually identied as a pelvic cystic structure and
a poorly visualized bladder), renal anomalies,
neural tube defects, and absent radius, among
others. Abnormalities of multiple systems may
strengthen suspicion for VACTERL or another
syndrome with anorectal anomalies. e vast
majority of anorectal malformations are still diagnosed postnatally on physical examination. Initial
examination of the perineum will reveal an absent
anus but a more detailed evaluation should be
undertaken to look for features such as the presence and position of an anal dimple, anal skin tag
or membrane, attened buttocks, and gluteal cle.
In girls, it is also important to determine whether
there are separate urethral and vaginal openings.
DIAGNOSIS
Prenatal diagnosis is largely limited to the more
serious anorectal anomalies and usually results
INITIAL MANAGEMENT
AND WORKUP
Initial management of the newborn focuses on
the gastrointestinal tract. Primary surgical repair
can be considered for those infants who pass
188 Urologic Anomalies in Anorectal Malformations
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retrograde lling with urine in the obstructed
vagina. Historically, hydrocolpos was managed
by vaginostomy drainage and/or vesicostomy
performed at the time of the diverting colostomy
but more recently it has been shown that it hydrocolpos can usually be managed safely by intermittent catheterization of the common channel.
Associated Anomalies
In addition to spinal imaging (ultrasound and
MRI when indicated) a urinary tract ultrasound
scan should be undertaken to evaluate any structural renal anomalies. Renal scintigraphy with
99mTc dimercaptoacetyltriglycine (MAG3) to
assess drainage and relative renal function can
usually be deferred until >3 months of age to allow
time for maturation of renal function. e role of
routine preoperative voiding cystourethrography
(VCUG) is debatable, and, in practice, it may be
dicult to identify a suitable anatomical route to
catheterize the bladder.
Figure 14.7 Meconium discharging from the
urethral meatus of a male infant with a rectourethral stula. A tract of meconium extending to the
perineum would suggest a perineal stula covered
with skin. Note also the presence of hypospadias.
meconium via a perineal or rectovestibular stula but a diverting colostomy is required in more
severe cases where there is no external stula or
internal stula to the urinary tract (Fig ure 14.7).
Visualizing the passage of meconium can help to
identify the location of a stula which is present.
But because it can take up to 24 hours for a newborn infant to pass meconium this period should
be allowed to elapse before any surgical intervention is undertaken. An end colostomy is preferable
to a loop colostomy and is typically performed
at the level of the descending colon to preserve
an adequate length of distal colon for surgical
reconstruction.
Hydrocolpos is present in 30% of cases of
persistent cloaca and is caused by accumulation of secretions, which may be combined with
SURGICAL MANAGEMENT
In general, children undergo denitive repair of
their anorectal anomalies at around 3 months of
age.
Pre-operative planning includes contrast
studies (distal colostogram) to evaluate the length
of distal colon available for a pull-through procedure and dene the relationship of the rectum
to the sacrum and coccyx. Cystovaginoscopy is
an essential part of the preoperative evaluation of
cloacal malformations and is ideally undertaken
when the diverting colostomy is performed. At
the time of endoscopy information should be
sought on the length of the common channel, the
bladder neck, bladder, and ureteral orices.
A detailed account of the reconstruction of
anorectal anomalies is beyond the scope of this
chapter. e technique most widely employed is
the posterior sagittal anorectoplasty originally
described and popularized by Peña (Figu re 14.8).
Colostomy closure is usually performed several
months following anorectoplasty.
Figure 14.8 Posterior sagittal anorectoplasty.
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With the patient prone, the rectum is approached
via a sagittal incision. The rectourethral stula
is divided and the rectum tailored before being
positioned through the levator complex and
external sphincter and brought down onto the
perineum.
UROLOGIC FOLLOW-UP
Outcomes / Urinary Continence 189
is higher with more severe malformations. In one
series, 80% of patients with cloacal anomalies developed long-term renal impairment. Another large
review of patients with cloacal anomalies found that
half of the patients developed chronic renal failure
by 5.7 years of age, and 17% went on to develop endstage renal failure. Between 2% and 6% of patients
with high anorectal malformations die from renal
insuciency compared with 1.1% of patients with
low lesions. is reects the higher incidence of
associated renal anomalies including renal dysplasia, reux nephropathy, and bladder dysfunction in
those with high anorectal malformations. e management of chronic renal failure and end-stage disease in children with anorectal malformations can
be challenging and peritoneal dialysis and subsequent renal transplantation can be dicult because
of the previous abdominal operations.
Routine clinical follow-up (including renal and
bladder ultrasound) should be continued until urinary continence has been established. Urodynamic
studies should be performed post-operatively in
all patients to establish baseline bladder function.
Urodynamics should be repeated if there are new
or worsening urinary symptoms (e.g. leakage, frequency, urgency). Further urodynamic evaluation
is also required if there are changes in the upper
urinary tract (worsening hydronephrosis or deteriorating renal function) or other signs of neurologic deterioration.
Hydronephrosis and vesicoureteral reux
should be managed in the same way as for patients
without anorectal anomalies. In boys, urinary
reux into the vas deferens may also be identied.
Unfortunately, this is a risk factor for recurrent
epididymo-orchitis, which is common in males
with anorectal anomalies and may require occlusion of the vas deferens to prevent recurrent episodes of epididymo orchitis.
OUTCOMES
Fecal Continence
Fecal continence aer anorectoplasty depends
on the functional integrity of the anal sphincter
complex, anorectal sensation, and bowel motility.
Patients with severe malformations and associated
sacral anomalies have a poorer long-term prognosis. Fecal continence rates aer reconstructive surgery are closely correlated with the location of the
rectourinary stula. Whereas the continence rate
in patients with a perineal stula is around 90%,
the corresponding rates vestibular, bulbar, prostatic
and bladder neck stulas are 70%, 50%, 30% and
12% respectively. Persisting fecal incontinence is
managed by a combination of enemas and motility
agents. Urologists managing these patients should
take into account their fecal continence status,
as many patients with fecal incontinence are less
motivated to become continent of urine and may
therefore forgo interventions such as bladder neck
reconstruction or closure, which would provide
them with a greater degree of urinary continence.
Moreover, bowel dysfunction may predispose these
patients to recurrent urinary tract infection.
RENAL
Severe and minor anorectal malformations both
carry a risk of renal failure, although the incidence
Urinary Continence
While fecal incontinence is primarily a quality
of life issue, urinary incontinence may represent
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underlying bladder dysfunction which can lead
to renal deterioration and morbidity from urinary tract infections. Recurrent urinary tract
infection may be overlooked or attributed to
coexisting vesicoureteral reux or renal anomalies, which are prevalent in a high proportion
of these children. e importance of lower urinary tract evaluation in these patients cannot
be overstated. Urinary continence is dependent
on the function of both the bladder and the urethral sphincter complex. Bladder management
focuses on bladder emptying and maintaining
low pressures. is may require catheterization,
treatment with anticholinergic agents, intravesical injections of botulinum toxin and/or bladder
augmentation. In these respects the management of bladder dysfunction is essentially the
same as for neurogenic bladder (see Chapter 13).
Many patients with a cloacal anomaly have a
competent bladder neck – which will enable them
to remain dry between intermittent catheterization. By contrast, patients with spinal anomalies
more oen have an incompetent bladder neck and
sphincter complex with resultant urinary leakage
despite optimal bladder management. In these
cases, various procedures are available to increase
outow resistance including injection of bulking
agents and formal bladder neck reconstruction.
Bladder neck closure is a further option but this
must be accompanied by Mitrofano procedure
to create a catheterizable channel for bladder
emptying.
ere is relatively limited published information on urinary continence rates in the anorectal
population. A retrospective study of 90 patients
in the Netherlands found that nearly all (91%) of
anorectal malformation patients with evidence of
bladder-sphincter dysfunction on urodynamics
had associated urinary incontinence. With only
one exception, all these patients had an underlying spinal anomaly. A subsequent study of over
300 patients found a correlation between incontinence rates and the type of malformation, i.e.
cloacal anomalies 46% incontinence rate, bladder
neck stula 25%, urethral stula 25%, vaginal
stula 20%. In those patients who did not have
a stula the urinary incontinence rate was much
lower – only 4%.
ADULT OUTCOMES
Very little research has so far been undertaken on
sexual function in adults with anorectal malformations. However, they do express an interest in
sexuality and sexual function and it is important
that these patients receive advice and support
from appropriate specialists.
Sex and Fertility
Males
Impaired erectile, ejaculatory, and sensory
function have been reported in adult male
patients who underwent surgical procedures
in the prostatic area at the time of anoplasty.
e posterior sagittal approach is thought to
be associated with better sexual functional outcomes by reducing the risk of iatrogenic damage
to the relevant pelvic innervation. Indeed, one
study examining sexual function in 41 males
with rectourethral stulae who had been treated
by the PSARP procedure found that 90% of
these patients had normal erections and ejaculation and 80% experienced normal orgasms.
Outcomes for sexual function are much less
satisfactory in men who underwent abdominoperineal procedures for the correction of their
anorectal anomaly – particularly in those men
with associated spinal anomalies. Psychological
factors may also contribute to sexual dysfunction even in patients with normally preserved
neurologic and anatomical function.
Fertility in these patients has invariably been
assessed in relation to paternity but the published
literature is very sparse. Infertility or subfertility
may be due to cryptorchidism, genital anomalies,
sacral anomalies, recurrent epididymo-orchitis,
or iatrogenic injuries.
Females
Adolescent females with anorectal malformations who previously underwent surgery which
included vaginal reconstruction will require
evaluation as they near puberty. It has been
Abnormal migration and fusion of the kidney / Renal Ectopia 191
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reported that only one-third of these patients
menstruate normally and it is important to
ensure that the vagina is not obstructed. ere
are reports in the literature of normal pregnancy in patients with anorectal malformations.
However, women with uterine anomalies, such
as didelphys are at higher risk for preterm labor
and miscarriage. Although some women may be
capable of normal vaginal delivery, Caesarian
section delivery is necessary in those who have
undergone complex vaginal reconstruction or
replacement.
Sexual dysfunction appears to be more common in females than in males. One recent study
found 50% of women with an anorectal malformation reported sexual dysfunction or distress
independent of continence and quality of life.
Moreover, 35–45% of female patients surveyed
had not been sexually active. Potential problems
include inadequate vaginal length or caliber,
dyspareunia, poor sensation, and psychosocial
distress.
Psychology
Simple ectopic kidney
An ectopic kidney may be located anywhere
along the embryological path of ascent from the
pelvis to the renal fossa (or rarely, within the thorax). Pelvic kidneys are the most common form
of renal ectopia, accounting for 60% of all cases.
e majority (90%) are unilateral and they occur
more commonly on the le. A pelvic kidney is
frequently hypoplastic and irregular in shape
(Figure 14 .9).
Genital and contralateral urinary abnormalities are oen associated with ectopic kidneys and
include; absence of the vagina, retrocaval ureter,
bicornuate uterus, supernumerary kidney, and
Anorectal malformations carry signicant
psychological morbidity which is reected in
impaired self-esteem, decreased quality of life,
and psychosexual dysfunction. Urinary and fecal
incontinence are associated with poorer sexual
wellbeing and quality of life. Ongoing multidisciplinary care is important for these patients,
and ideally this should include the input of a psychologist with knowledge of issues facing patients
with anorectal anomalies.
ABNORMAL MIGRATION AND
FUSION OF THE KIDNEY
Renal Ectopia
Renal ectopia results from abnormal renal migration and/or fusion during embryologic development. Ectopic kidneys can be classied as simple,
horseshoe, or crossed.
Figure 14.9 Intravenous urogram demonstrat-
ing a right pelvic simple ectopic kidney.
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