Anorectal Malformation
Dr. V.V. Shahapurkar
Professor,
Department of Surgery
D.M.I.M.S.
Learning objectives
Anal Anatomy
Embryology of the imperforate anus
Definition
Incidence
Classification
Approach
Prognosis
Photos!!
Anal Anatomy
(RETURN TO) DIVISION OF THE CLOACA
Recall how the urogenital diaphragm subdivided the cloaca in a rectum and a bladder.
Recall also how it subdivide the cloacal opening to split off the urogenital opening from
the anus.
The urogenital opening is the more ventral of the two.
Development of urogenital organs/RELATIONSHIP TO ADULT MORPHOLOGY
MARS
Former kidney
duct become
ductus deferns,
epididymous,
retains connection
to bladder
VENUS
New tubes fuse at
midline to become
uterine tubes,
uterus, superior
2/3 vagina
Development of
urogenital organs/
RELATIONSHIP TO
ADULT MORPHOLOGY
Note thin wall of
rectouterine pouch and
posterio-superior portion
of vagina
FEMALES:
Important pouches regions
of perineal coelom of
females:
VESICOUTERINE POUCH
RECTOUTERINE POUCH
Anorectal malformations
The cloaca
(which is a common chamber into the hindgut and allantois)
Separated into:
The bladder
post-allantoic gut
(rectum)
Proctadeum
(epiplastic bud)
Downward growth
of a septum
Fusion during the 3rd month of intrauterine life
when there is imperfect fusion
imperforate anus
Imperforate anus
Includes agenesis and atresia of the rectum and anus
Etiology: unknown
Incidence: 1 in 4,500
SEX: 60% male
Imperforate anus
Low abnormalities
High abnormalities
Termination of bowel below the
pelvic floor
Termination of bowel above the
pelvic floor
Easy to Dx
Simple to ttt
Outlook is good
Often have a fistula into the
urinary tract with deficient
pelvic floor
Difficult to ttt
1)Covered anus
2)Ectopic anus
3)Stenosed anus
4)Membranous stenosis
1)Anorectal agenesis
2)Rectal atresia
3)cloaca
Low abnormalities
1)Covered anus
Anal canal covered by a bar of skin with a track
running forwards to the perineal raphe. This
track is called Bucket Handle midline Raphe
fistula.
2)Ectopic anus
Anus situated anteriorly
in , it opens in perineum
in , it opens in vulva
or vagina
(more commonly)>>
(rare)
vulval ectopic anus
3)Stenosed anus
i.e. microscopic anus
There is a minute opening that can be seen
if examined carefuly
4)Membranous stenosis
Rare
Anus is
normally sited
covered with a thin membrane
that bulges with retained meconium
High abnormalities
Could be associated with:
a fistulas connection between the blind
rectal stump and the bladder
or other pelvic structures abnormalitie
1)Anorectal agenesis
Rare
Blind rectal pouch lies just above the pelvic floor
In
anterior aspect attached to the bladder & often
there is a rectovesical fistula or rectourethral fistula
(manifested by passage of gas or meconium in the urine)
or perineal fistula
In
fistula to the posterior fornix >> rectovestibular
(or rectovaginal)
low RVF
easy to correct
postop. Function is good
high RVF
difficult to correct
postop function is poor
2)Rectal atresia
Rare
Anal canal is normal but ends blindly at
the level of pelvic floor & the rectum also
ends blindly above the pelvic floor without
a fistulas opening.
3)cloaca
Occurs only in
Bowel, urinary & genital tracts all open into a
common wide cavity
Commonly associated with other developmental
abnormalities e.g. tracheoesophagial fistula
Approach
History >>> the systems involved
Examination >>> DDx
Investigation >>> Dx
Management
History
Failure to pass meconium within the 1st 24 hours
of life.
Patients with anterior ectopic anus may
present in childhood or in adulthood. These
patients have lifelong histories of constipation
and painful defecation and usually have required
laxatives or enemas for management.
Examination
Inspection
alone is sufficient for management plan in 90% of patients.
?
High
Low
Bucket handle defect
Gas/meconium from perineum
Perineal fistula if skin bridge
between vestibule and fistula.
Anterior ectopic anus
i.e. normal sized anus
surrounded by normal muscle.
Urine free of meconium
(NB average of 20 hrs for meconium to appear in urine).
Flat bottom
Short sacrum
Little muscle contraction
Meconium per urethra
Rectovestibular fistula if within mucosal
margin of the vestibule.
Sphincter located close to the scrotum
or bifid scrotum often associated
with a Prostatic Fistula.
Cloacae are often missed if urethral
opening is not identified in female
with a recto-vaginal fistula.
Furthermore, cloacae often have small
openings and may be a cause of
referral for ambiguous genitalia.
Differential Diagnosis of Conditions That May Be
Associated with Failure to Pass Meconium in the Newborn
Hirschsprung's disease >>Tight anus, empty rectum, transition zone
Meconium plug syndrome >> Meconium plugs
Meconium ileus >> Abdominal distention at birth, cystic fibrosis
Anorectal malformation >> Absent anus, tight anus or fistula
Small left colon syndrome >>Transition zone* at splenic flexure
Hypoganglionosis >> Transition zone*
Neuronal intestinal dysplasia type A >>Transition zone*, mucosal
inflammation
Neuronal intestinal dysplasia type B >> Megacolon
Megacystis-microcolon-intestinal hypoperistalsis syndrome >> Microcolon,
megacystis
*--Transition zone (from small- to large-diameter bowel) refers to radiographic visualization on contrast study.
Investigation
Very Important to:
1. Exclude other anomalies!!
2.Determine whether abnormality is high or low!!
1. Exclude other anomalies!!
Anal atresia may occur as a part of the VACTERL group
of anomalies
V Vertebral body segmentation defect
A Anal atresia
C Cardiovascular (PDA, VSD)
TE Tracheo esophagial fistula
R unilateral Renal agenesis
L Limb anomaly (radial ray hypoplasia)
So, very careful examination of the baby must be made to
exclude these anomalies
Associated abnormality
Investigation
"V" Vertebral Abnormality (butterfly
vertebrae, hemi-vertebrae)
Spinal ultrasound, Spinal x-ray
"C" Cardiac, Heart Abnormality
Cardiac ECHO (VSD, ASD, PDA)
Cardiac ECHO
"R" Renal, Kidney abnormality (solitary Renal ultrasound, Voiding cystokidney, horse shoe kidney)
urethra-gram (VCUG)
"TE" tracheoesophogeal abnormality
(TEF)
Physical examination
"L" Limb deformity
Physical examination, x-rays
2.Determine whether abnormality is
high or low!!
1)Invertogram:
with a metal button or a coin strapped to the site of the anus or a
metal bougie inserted into the blind anal canal
Infant is held upside down for 3-4 minutes
Then radiograph in the inverted lateral position ( both the greater
trochanters should be on the same line)
The gas in the rectum will rise to the top indicates the distance
between the site of the metal indicator and the blind end of the
rectum >>> if the distance > 2.5 cm, the abnormality is high!!
if the rectum ends above the PC line (pubococcygeal line = from the
symphysis pubis to the last vertebra), the abnormality is Low & vise
versa or according to ischeal line (between ant.-sup. Iliac spines).
When to be done?
Although it is a useful method, sometimes vitiated by a plug of
meconium in the rectum causing an apparent gap far in excess of
that actually present. So, it may be necessary to wait until the baby
is 24 hrs old before rectal gas appears
Metal button
PC line
gas in the rectum
2)Urine culture:
Presence of meconium
Presence of proteus or pseudomonas usually signifies that a fistula is
present
3)US:
To evaluate the lesion type
4)MRI:
If we suspected complex malformation
5)Micturating cystourethrogram:
By injecting a dye in the urethra
Treatment of Low abnormalities:
1)Covered anus:
The track should be opened by scissors
Followed by routine dilatation of the anus
2)Ectopic anus:
Plastic cut-back operation
3)Stenosed anus:
Regular dilatation
Treatment of High abnormalities:
Very difficult problem & each case must be considered on
its merits
The possibilities are:
Two-stage operation:
1st stage laparotomy
Division of rectourethral fistula
Transverse colostomy
2nd stage rectal pull-through operation
One-stage operation:
laparotomy
Division of fistula
pull-through operation
Division of fistula & rectal pull-down operation through
the perinum ( know rarely used)
Cont. Treatment of High abnormalities:
The new technique is post-sagittal
rectoplasty (PSARP)
colostomy only ( for cloaca)
Pull-through operation
Lower bowel is mobilized
New passage is created through the pelvic floor
by passing a pair of curved forceps & through it,
keeping close to the urethra, to the site of the
future anus.
This is dilated by Hegars dilator so that the
bowel can be pulled down and its mucosa
stitched to the skin of the newly formed anus.
Daily dilatation will be required for at least 3 mo.
after the operation and it may be necessary for
years.
PSARP
Published by Dr. Albeto Pea >> It is assumed that the
innervation to the sphincter mechanism is paired and meets in the
midline. The PSARP dissection is along the midline providing
excellent exposure with minimal trauma to nerves and
musculature.
It involves:
Stimulation of muscles to demonstrate the midline and sphincter
Posterior sagittal incision - length depends on severity of abnormality
and required extent of dissection
Rectum identified. Abdominal approach may be required in addition in
10% of males and 40% of cloacae
Rectum dissected
Separation from genitourinary tract
Repositioning the neoanus within the sphincteric mechanism
Position for PSARP
Incision in PSARP
Posterior sagittal repair of a rectovestibular fistula .
Prognosis
In high % of cases, imperforate anus is
associated with other congenital
abnormalities especially of the urinary
organs & nearly 50% of deaths in cases of
imperforate anus are due to other
malformations
IN a Summary
1 opening >>> Cloaca
2 openings >>> anorectal agenesis with
rectovaginal fistula
3 openings >>> ectopic anus, stenosed anus,
membranous anus, rectal atresia or even normal
anus!!!
The most important investigation is the
invertogram
It is very important to rule out other anomalies
The best & the newest operation is PSARP
Cloaca
Anorectal agenesis and rectovestibular fistula.
Anourethral fistula
imperforate anus and a rectoperineal fistula .
imperforate anus and a bucket-handle
malformation
Covered anus
Thank you!!
References:
Bailey & Loves short practice of surgery (24th
edition)
The management of ARM course companion
Cinncinatti childrens hospital medical center (2007)
University of Michigan, Section of Pediatric Surgery
Clinical picture from Emedicine website & Cinncinatti
CHMC.
