Introduction

General rule in medicine

Difficult to diagnose – Easy to Manage

Easy to diagnose – Difficult to Manage

Diagnosis of Anorectal Malformations

Have a look at the patient’s bottom.

Review of the anal canal anatomy

-The upper 2/3s of the anal canal is derived from the hindgut (endoderm), the
lower 1/3 of the anal canal is derived from the proctodeum (surface ectoderm).

-The pectinate line (structure A) marks the junction between the endoderm and
the surface ectoderm. The lower third derived from the surface ectoderm is also
known as the anal mucosa or the anoderm.

-The physiological importance of the anoderm is its contribution to the

continence mechanism and the sensation abilities (as its somatically
innervated). It’s a circumflex structure whose resection should be avoided in
surgeries.

(e.g. In a patient with Type IV hemorrhoids (irreducible, edematous, protruded

piles with anoderm covering them- the treatment should be conservative until the
edema regresses then hemorrhoidectomy is carried out).

-The sphincteric mechanism for continence is derived by the action of:

(i) External Anal sphincter (85%) – Somatic innervation

(ii) Internal Anal sphincter (15%) – Visceral innervation

Cutting the sphincter is avoided by surgeons as it would impair the continence

mechanism as the cut tissue will heal by fibrosis.

(e.g A patient with a transphincteric, high type fistula. The fistula should be
ligated rather than resecting the sphincter).

Continence Mechanisms

1- Sphincter

2- Anoderm
3- Presence of a hollow organ to act as a reservoir (which is the colon and
the rectum)
4- Peristaltic activity of the large bowel

Congenital Anomalies
-Imperforate Anus
Definition

Absence of a normal anal opening

Incidence

Boys> Girls

Presentation/Symptoms

-no anal opening

-misplaced anal opening

-anal opening very near the vaginal opening in a female

- no bowel movement within 24 to 48 hours after birth

- stool passed through the vagina or urethra

- abdominal distension (bloating)

Diagnosis

Look at the patient’s bottom. You won’t be able to see the anal canal or the anal
verge. The diagnosis is made often shortly after birth.

Diagnose if the defect is high type or low type using an invertogram (see later)
and make sure there are no other congenital anomalies

Pathophysiology

The terminal part of the hindgut, the cloaca, is an endoderm lined chamber in
contact with the surface ectoderm at the cloacal membrane. The cloaca, is in
connection with the allantois ventrally which is a fingerlike diverticulum of the
yolk sac. –Moore’s Before We are born

The cloaca is a common chamber between the hindgut and the allantois. By the
12th week of pregnancy the bowel has herniated and forms outside the abdomen.
By the end of the first trimester the bowel returns back and the allantois remains
as the connection between the umbilicus and the cloaca.
The allantois is also connected to the future bladder through the urachus. The
urachus degenerates to form the median abdominal fold (covered with
peritoneum). A patent urachus can cause some urine to be excreted from the
umbilicus.

Future patency between the bowel lumen and the umbilicus can lead to a patent
omphalomesenteric duct which can cause succus entericus to be seen at the
umbilicus. Succus is the content of the small bowel that will be converted into
stool as it reaches the large intestine. The connection of the duct with the
intestine is 2 feet from the ileocecal valve.

Failure to obliterate the duct can result in one of the following:

(i) Meckel’s diverticulum

(ii) Cyst
(iii) Band
(iv) Sinus
(v) Patency
(vi) Cyst with bands below and above the lesion

During embryonic development, a septum known as the urorectal (transverse)

septum grows to divide to the cloaca into an anterior and posterior
portion(dividing the future perineum into an anterior (urogenital area) and a
posterior area). The anterior portion gives rise to the bladder in males, and the
bladder and vagina in females while the posterior portion gives rise to the rectum
in both sexes. The posterior portion is
then further canalized to create the
anus.

Failures of the urorectal septum to

separate the anterior and posterior
portions of the cloaca will result in the
formation of a communication
between the 2 portions in the form of
a fistula. High up, the defect will result
in a fistula between the rectum and the urological structures or the vagina and
lower down, a failure to form the hole in the skin will occur(imperforated anus).
In down’s syndrome it is possible to see a case of imperforated anus without a
fistula higher up.

The image to the left shows a child with an imperforated anus. The condensation
seen is not an opening but is rather a skin dimple developed by the aggregation of
the muscles of the external sphincter. In patients where the natal cleft (the cleft
that separates the buttocks into a right and left buttock) is absent, the muscles of
the sphincter are scattered and hence no anal skin dimple is seen. This signifies
that the rectum is higher up and the lesion is of the high type. This can mean that
the prognosis is worse regarding continence (things will become clearer after
reading the classification section).

Classification

I- Low type
II- High type

The classification depends on the distance of the hollow of the rectum from the
surface of the skin. The distance is measured using an invertogram (X-ray image
taken with the child in the prone position or hung upside down. A piece of metal
is attached to the anal dimple and an X-ray is taken. The distance between the
hollow of the rectum and the skin’s surface).

The invertogram should be taken no earlier than 24 hours after birth to make
sure that the gas has reached the rectum and hence avoid misdiagnosis

High type >2.5 cm between the rectum and the anal dimple on the invertogram

Low type <2.5 cm between the rectum and the anal dimple on the invertogram
I- Low type

This type of anomaly is associated with a good prognosis where 75-90% of

patients are continent after corrective surgery. (75% overall, 90-95% for very
low types)

A -Low type imperforated anus with rectoperineal fistula

This is one of the most common types of imperforated anus with anal atresia.
It is also known as anterior ectopic anus.

Presentation: Meconium is seen passed through a small opening anterior to

the normal anus location. The opening is located in males just behind the
scrotum. A prominent midline skin bridge (known as 'bucket handle') may also
provide a clue towards the diagnosis

Bucket handle phenomenon

B- Low type imperforated anus with persistent anal membrane (possibly seen
in Down’s syndrome)

In this case there is no fistula. The anal membrane however is persistent and
seals the anal opening. Treatment is by incising the membrane and dilating the
anal canal.

Presentation: Meconium is seen as a blue-green discoloration behind the anal

membrane covering the normal location of the anal opening.
 II- High type

Worse prognosis is seen in this type. Only 20-25% of patients achieve

continence. The reason behind this is usually the fact that the muscles of the
sphincter are fragmented.

A-High type imperforated anus with rectovestibular fistula

B- High type imperforated anus with rectovaginal fistula (<1%)

C- High type imperforated anus with rectovesical fistula

The exact location of the fistula is in the center of the trigone. This means that
its surrounded laterally by the ureter openings, superiorly by the vas deferens,
and inferiorly by the prostate and the seminal vesicle. The location of the
fistula is critical as the bladder will be neurogenic and in this case often
incontinence for urine and stool is seen even after corrective surgery*

D- High type imperforated anus with rectourethral fistula

In males most commonly opens into the membranous urethra

III- Associated defects with imperforated anus

Cloacal ectopia: is a severe birth defect wherein much of the abdominal organs
(the bladder and intestines) are exposed. It often causes the splitting of
both male and female genitalia (specifically, the penis and clitoris respectively),
and the anus is occasionally sealed.

It is a very rare form of defect.

VACTERL

Vertebral anomalies (especially sacral anomalies). See the image below for an
explanation of sacral ratio index, a parameter that can be used clinically to
determine the presence/absence of sacral anomalies. Sacral anomalies can be
associated with problems in the sacral plexus causing losses of urinary and stool
continence
Anal atresia

Cardiovascular anomalies (ASDs/VSDs)

TE(Tracheoesophageal) fistulas or esophageal atresia

Renal Agenesis

Limb defects

Treatment

Golden rules of surgical treatment in general:

1- Receive patient
2- Control sepsis
3- Support nutrition
4- Draw anatomy
5- Do Surgery
If the defect is of low type and the meconium is seen just behind the anal
membrane, there is no need for diversion and simple incision and anal dilation
will resolve the problem.

Surgical correction:

If a fistula is present, it should be cannulated with a foley’s catheter and contrast

should be injected. The contrast is hyperosmolar and will remove any clots found
in the fistula. This is important to allow us to draw the anatomy of the fistula
before operating surgically.

A-One stage procedure

Possibly done for very high type conditions (Rectovesical fistulae).

B-Two stage procedure

Stage 1: Left iliac fossa laparotomy and placing a sigmoid colostomy. A separated
(divided) colostomy rather than a loop colostomy needs to be created. This is the
initial treatment to allow the child to feed before correcting the anomaly later in
life.

Stage 2: Rectal pull through( rectum is taken down and implanted in the sphincter
mechanism).

The fistula should be divided as distally as possible to avoid the formation of a

urethral auricle (where urine collects).

C- Posterior Sagittal Anoplasty / PSARP, also known as the Pull-Through

Procedure

New procedure developed by Alberto Pena where the skin is incised along with
the sphincter along the midline and other layers, then the rectum is taken and
pulled through and implanted into the sphincter again.

“Posterior sagittal anorectoplasty (PSARP) is a new technique for the repair of

high anorectal malformations. It is based upon complete exposure of the
anorectal region by means of a median sagittal incision that runs from the sacrum
to the anal dimple, cutting through all muscle structures behind the rectum.”-
PubMed

Good luck and sorry for any mistakes!

Zaid