English class 3

MALFORMASI ANORECTAL

Anorectal Anomalies
Case 1
A baby boy is delivered in a country hospital. He is found to
have an absent anal opening and has passed meconium per
urethra.

Q 1.1 How would you arrange referral and transport?

Q 1.2 What will you tell the parents about the management of
imperforate anus in the first few weeksof life?
Q 1.3 What is the long-term outlook for the baby?

Case 2
A child with imperforate anus has had an anorectal
reconstruction, but at the age of 5 years he is soiling frequently
and is about to start school.
Q 2.1 Which method of imaging would give the best
visualisation of the relationship of the bowel to the anorectal
sphincters?
Q 2.2 If no fault is found with the reconstructive surgery how is
this problem managed?

Anorectal malformations are becoming less common.

Although imperforate anus is the name given to this
condition,
in many cases there is a fistulous opening into the urinary tract
in the male or the genital tract in the female.
There are many different subtypes of anorectal anomalies and
these anomalies are also associated with other syndromes such
as the VATER association (Vertebral; Anal; Tracheo-
oEsophageal; Radial/Renal). Surgical correction
of these anomalies is difficult as the rectum and anus have
lost their relationship to the sphincter muscles and
these muscles may be abnormal in their development
and nervesupply.

Classifi cation
There are a number of variations seen in the anatomy of the
perineum in infants with anorectal malformations
The key difference between the different types of anomaly lies
in the relationship of the terminal bowel to the pelvic floor
muscles and the levator ani muscle in particular.
In addition, anorectal anomalies are divided into those ; with or
without a fistula to the urogenital tract or the skin.
More severe anomalies have arrested development of the
bowel above the pelvic floor muscles; these are relatively
difficult to treat and the long-term prognosis for normal
continence is not good.
In lesions where the developing bowel passes down through
the pelvic floor muscles and anal sphincters; the surgical
correction is relatively easy and the long-term prognosis is
better, but not always for normal continence.
Lesions where the bowel passes down into the levator ani
muscle but does not reach the anal canal sphincters have an
intermediate prognosis.

International clasifikation
 Major clinical groups Perineal cuteneus fistula
Rectourethral fistula
Bulbair
Prostatic
Rectovesical fistula
Rectovestibulai fistula
Cloaca
Non fistula
Anal stenosis
Rare/regional variety Pouch colon
Rectal atresia/stenosis
Rectovaginal fistula
H type fistula
Other

Associated anomalies

The mortality and morbidity of imperforate anus is influenced

as much by the associated anomalies as the anorectal lesion
itself. About 60% of infants with an anorectal malformation
have a second abnormality.
The commonest of these are genitourinary (30%), vertebral
(30%), alimentary (10%) or in the central nervous system
(20%).
In the alimentary tract, oesophageal atresia and duodenal
atresia may be seen. Cardiac and major chromosomal
abnormalities may be life threatening.
A wide range of urinary tract abnormalities, including
neuropathic
bladder, vesico-ureteric reflux, duplication of the ureter and
ureterocele are common with imperforate anus and may
increase the long-term morbidity. The vertebral anomalies
may be associated with deficiency of the spinal cord and pelvic
nerves which contributes to the anorectal sphincteric
dysfunction.

Incidence

Anorectal malformations occur in 1:3000 to 1:5000 births with a

slight preponderance in males. Males have high lesions more
frequently where as females tend to have less severe lesions.
 Most cases of imperforate anus are sporadic and the risk of
this problem occurring in a future pregnancy is very small.
There are, however, occasional families with a high incidence of
anorectal anomalies, which follow an autosomal dominant
inheritance pattern.

Clinical features
The newborn baby with a supralevator lesion has no visible
anus [Fig. )

The featureless perineum of a male baby with a

rectourethral fistula.

In females, the bowel opening into the genital tract is usually

wide; enough to decompress the bowel adequately.
In males, a fistula to the urinary tract may lead to the
appearance of meconium in the urine, an important diagnostic
observation , but this fistula is too narrow, and the infant
develops features of a distal bowel obstruction The key
difference between the different types of anomaly lies in the
relationship of the terminal bowel to the pelvic floor muscles
and the levator ani muscle in particular.
In addition, anorectal anomalies are divided into those with or
without a fistula to the urogenital tract or the skin. More severe
anomalies have arrested development of the bowel above the
pelvic floor muscles; these are relatively difficult to treat and
the long-term prognosis for normal continence is not good. In
lesions where the developing bowel passes down through the
pelvic floor muscles and anal sphincters the surgical correction
is relatively easy and the long-term prognosis is better, but not
always for normal continence. Lesions where the bowel passes
down into the levator ani muscle but does not reach the anal
canal sphincters have an intermediate prognosis.

A micturating cystourethrogram [Fig. ] will show

any fistula into the urinary tract (e.g. rectourethral fistula)
and demonstrate other associated urinary tract problems
(e.g. vesico-ureteric reflux).

Tabel Clinical evaluation of anorectal anomalies

________________________________________________________________

MALE
= A fistula opening on to skin of the perineum or penis indicates alow lesion

=Meconeum in the urine indicates a high lesion with a fistula to the urinary
tract

=If there is no perineal skin fistula, imaging is required to diagnose the level
where the bowel stops and confirm whether there is a fistula to urinary tract

FEMALE

= 3 opening on the perineum indicate low lesion

= 2 opening on the perineum (urethra and vagina) with no visible fistula

indicate high lesion- the rectum opens directly into vestibule or vagina

= 1 opening on the perineum(cloaca) indicate a severe complex cloacal

anomaly

________________________________________________________
.
A fistula opening on the perineal skin is easily visible when it is
fi lled with meconium, but can be very minute and requires a
careful search with
good illumination [Fig. ].

A perineal (cutaneous) fi stula in a male, with a

probe in the fistula in the scrotal raph

In females, a detailed search of each perineal orifice is

essential, and the internal anatomy can be predicted when the
site of the external opening has been located. For example,
faeces may be described as coming from the
vagina, yet rectovaginal fi stulas are relatively uncommon, and
a more careful examination will usually reveal a small orifice
tucked into the vestibule just outside the vaginal orifice (a
rectovestibular fi stula) .

The most severe anomaly seen in the female is the cloaca,

where there is only one opening in the perineum: the urethra,
vagina and bowel all open into the vault of this common cloacal
channel.

Figure ; A schema of the more common varieties of anorectal

malformations.
 (A1)Male perineal fi stula (A2) Female perineal
fi stula (B1) Rectoprostatic fi stula (B2)
Rectobulbar fi stula (C1) Rectovesical fi stula
(C2) Rectovestibular fi stula (D1) Cloacal
anomaly (D2) No fi stula (E) Anal stenosis.

This is the most difficult of all the anorectal malformations to

treat.
A careful and complete physical examination of all babies with
imperforate anus must be conducted to detect any associated
spinal, gastrointestinal and cardiac anomalies.
This includes the passage of a stiff nasogastric tube to exclude
oesophageal atresia .
Chromosomal abnormalities such as Down syndrome may also
occur.

Imaging
The newborn baby with an anorectal anomaly will need
extensive imaging to determine the relationship of the rectum
and anus to the anorectal sphincter muscles and also to
demonstrate associated anomalies in the
spine, urinary tract, cardiovascular and
gastrointestinalsystems.

1 X-rays of the spine and chest will demonstrate any associated

‘VATER’ anomalies. Sacral agenesis is of particular importance
as loss of the pelvic nerves leaves a poor outlook for
continence.

2 The lateral decubitus x-ray uses bowel gas as contrast to

measure the position of the terminal bowel against the bony
landmarks, to determine its relation to the sphinctermuscles
[Fig 11.5].

3 Magnetic resonance imaging provides the best evaluation of

the state of the sphincter muscles and their relationship with
the rectum and anus.

4 Ultrasonography in the fi rst few weeks of life will reveal if

there is any defi ciency or tethering of the lower spinal cord,
and will detect any structural abnormalities of the urinary tract.
An echocardiograph is also performed.

Prone, cross-table lateral radiograph in a baby with a no fistula,

but an
imperforate anal membrane, with gas-filled bowel extending
nearly to the
marker on the skin.
Treatment and prognosis
Certain generalisations can be made
� The identification of a fistulous opening in the perineum
indicates that there is a low anomaly and theprognosis is good.
� In males, meconium in the urine, indicates a high lesion and
will often need a preliminary colostomy.
A rectovestibular fistula in a female with the thermometer
passing cranially up the fi stula behind the vagina.
A micturating cystourethrogram showing contrast
in a rectourethral fi stula outlining the distal colon as well as
thebladder.

Prone, cross-table lateral radiograph in a baby with ano fi stula,

but an
imperforate anal membrane, with gas-filled bowel extending
nearly to the
marker on the skin.

� In females, a fistula should be expected and a thorough

search made for it. In those without a fistula, a colostomy is
required. In most of those with an identifi able fistula,
immediate local surgery is simple and the prognosis
is good.
� An expressible bladder with perineal anaesthesia and sacral
agenesis indicates major nerve disruption to the bladder and
anorectal sphincters. The prognosis for normal continence is
poor.

Low lesions with a perineal fi stula

The long-term outlook for continence is good, apart from
occasional smearing, staining of underwear, and a tendency to
constipation with faecal accumulation.
An anocutaneous fi stula in either sex, or anovestibular and
anovulvar fi stulas in females, require a perineal operation to
repair the anus. Imperforate anal membrane and anal stenosis
require simple incision and dilatation.

High lesions (usually without a perineal fistula)

In most cases, a colostomy is performed at birth.
At the age of 3–4 months, definitive surgery is undertaken.
This is done using a midline perineal approach or
laparoscopically.
A muscle stimulator is used to identify the anal sphincter and
pelvic floor muscles forming the levator ani sling.
The terminal bowel is identifi ed and any rectourinary fistula is
closed. The bowel is brought down through the sphincters to
the normal site of the anus.
POSTERIOR SAGITAL ANORECTOPLASTY (PSARP)

This ‘pull through’ operation provides the best anatomical

reconstruction of the anorectal anomaly, yet despite this
accurate reconstruction, the results for normal faecal
continence are still not good. Although the anorectal
sphincter complexes are present in more severe anomalies, the
muscles are often poorly developed or the nerve supply is
deficient.
Recurrent faecal impaction, major soiling or less severe, but
distressing, minor soiling are still common problems.
A carefully controlled diet to avoid diarrhoea along with a
programme of enemas or home bowel washouts can give quite
good ‘assisted continence’ in well-organised families. An
occasional child needs antegrade colonic irrigation via an
appendicostomy (Malone operation). Imperforate anus is a
difficult condition to diagnose and treat. Associated anomalies
such as the VATER association can cause as much morbidity as
the anorectal anomaly. Lesions with a perineal fistula do
reasonably well with minimal surgery, but high lesions require
extensive reconstructive surgery and the results for continence
in these depend as much on the long-term support and care of
the family with bowel management as on the skill of the
surgeon.

Key Points
= Babies with anorectal malformations need careful
investigation for other anomalies.

= At birth, immediate transfer to a neonatal surgical centre is

optimal.

= Surgical management and prognosis depend on the type of

anomaly and whether or not a fistula joins the colon to the skin
or urogenital tracts.