ANORECTAL MALFORMATIONS

What are Anorectal Malformations?

Anorectal malformations are defects that occur during the fifth to seventh weeks of fetal development. With
these defects, the anus (opening at the end of the large intestine through which stool passes) and the rectum (area
of the large intestine just above the anus) do not develop properly.

Anorectal Malformations Incidence

Anorectal Malformations affect 1 in 5,000 babies and is slightly more common in males.
The exact cause of anorectal malformations is unknown. In some cases, environmental factors or drug exposure
during pregnancy may play a role, but this is still unclear.
During a bowel movement, stool passes from the large intestine to the rectum and then to the anus. Nerves in the
anal canal help us sense the need for a bowel movement and also stimulate muscle activity. Muscles in this area
help control when we have a bowel movement.

Synonyms
Imperforate anus
Anorectal malformations
Anorectal anomaly

TYPES
• HIGH TYPE {>1.5 cm b/w anal dimple & blnd end of colon}
• LOW TYPE {,1.5 cm distance}

TYPES
1. Stenosis of anus: - stricture may be at the anus at the level of 1-4 cm above the anus.
2. Anal membrane atresia: - in which the persistent anal membrane produces the obstruction behind which
meconium can be seen.
3. Anal agenesis: - in which there is imperforate anus, possibly seen as dimple with a rectal pouch ending
blindly some distance above the anus and the fistulus tracts between the rectum and another area.
4. Rectal atresia: - there is normal anus & anal pouch with the rectal pouch ending blindly in the hollow of the
sacrum.

Embryology:-
In the 8th week of embryonic life the membrane that separates the entodermal hindgut from the ectodermal anal
dimple perforates & a continuous canal is formed. If this membrane separating the rectum from the anus is not
absorbed & the union does not take place an anorectal anomaly takes place.

With an anorectal malformation, any of the following abnormalities can occur:

• The anal passage may be narrow or misplaced in front of where it should be located
• A membrane may be present over the anal opening
• The rectum may not connect to the anus
• The rectum may connect to part of the urinary tract or the reproductive system through a passage called a
fistula, and an anal opening is not present

Are other disorders associated with anorectal malformations?

Approximately 50% of babies with anorectal malformations have other coexisting abnormalities. These
commonly include:
 • Spinal abnormalities, such as hemivertebra, absent vertebra and tethered spinal cord
• Kidney and urinary tract malformations, such as horseshoe kidney and duplication of parts of the urinary
tract
• Congenital heart defects
• Tracheal and esophageal defects and disorders
• Limb (particularly forearm) defects
• Down syndrome, Hirschsprung's disease and duodenal atresia can also occur with an anorectal
malformation.

How are anorectal malformations diagnosed?

When a baby is born, the physician performs a thorough physical examination that includes seeing if the anus is
open and in the proper position. A number of diagnostic tests may also be done to further evaluate a problem
and to determine whether other abnormalities are present.

Abdominal X-rays -
These provide a general overview of the anatomical location of the malformation in a cross-table lateral view,
and may help determine if it's high or low in the anorectal area.
They also let us know if there are abnormalities of the spine and sacrum, a triangular-shaped bone just below the
lumbar vertebrae.

Abdominal ultrasound and spinal ultrasound -

These are used to examine the urinary tract and spinal column.
They also provide evidence of a tethered spinal cord, an anatomical abnormality where the end of the spinal
cord is abnormally anchored. A tethered spinal cord may cause neurological difficulties, such as incontinence
and leg weakness as the child grows.

Echocardiogram -- This test is performed to determine if there are heart defects.

Magnetic resonance imaging / MRI --
In selected cases, this diagnostic study is necessary to make a definite diagnosis of tethered cord or other spinal
abnormalities. It is also used to help define the anatomy of pelvic muscles and structures

Clinical Findings
Findings are associated with a high malformation

– A flat perineum, as evidenced by the lack of a midline gluteal fold

– Absence of an anal dimple, indicates that the patient has poor muscles in the perineum.
Perineal signs found in patients with low malformations include

– the presence of meconium at the perineum,

– a bucket-handle malformation

– Anal membrane (through which meconium is visible).

TREATMENT
Treatment will depend on the type of anorectal malformation, the presence and type of associated abnormalities,
and the child's overall health.
Rectoperineal Malformation:-

Infants with a rectoperineal malformation require an operation called an anoplasty, which involves moving the
anus to an appropriate place within the muscles that control continence called the anal sphincter.

Colostomy for Infants with Anorectal Malformations without a Fistula:-

Newborn boys and girls diagnosed with anorectal malformations without a fistula will require one or more
operations to correct the malformation. An operation to create a colostomy is generally initially performed.

With a colostomy, the large intestine is divided into two sections, and the ends of intestine are brought through
small openings in the abdominal wall. The upper section allows stool to pass through the opening, called a
stoma, and into a collection bag. Intestinal mucus exits through the opening of the lower section of intestine.By
performing this surgery, digestion will not be impaired and growth can occur before the next required operation.
By diverting the stool, the risk of infection is minimized when the later reconstructive operation is performed.

Nursing staff and other health care professionals who work with the patient's surgeon will help parents learn
how to take care of the colostomy, and they will assist them in making the transition from the hospital to home.
Local and national support groups may also be very helpful during this time.

The next operation creates a connection between the rectum and the newly created anal opening. This procedure
is usually performed from a posterior midline approach.
In some cases where the rectum ends within the abdomen (high lesions), minimally invasive (laparoscopic)
surgery or traditional open surgery can be used to bring the rectum down to the anal opening.
The colostomy remains in place for six to eight weeks after this procedure so the area can heal without being
infected by stool and so the patient can undergo a dilation protocol and the anus can reach the size appropriate
for age. Even though the rectum and anus are now connected, stool will leave the body through the colostomy
until it is closed with surgery.

Anal Dilatation After Surgery to Repair Anorectal Malformations:-

A few weeks after surgery, parents are taught to perform anal dilatations to ensure the anal opening is large
enough to allow normal passage of stool. The colostomy is closed in another operation at least six to eight weeks
later. Several days after surgery, the child will begin passing stools through the rectum. Shortly after surgery,
stools may be frequent and loose, and diaper rash and skin irritation can also be a problem. Within a few weeks
after surgery, however, stools become less frequent and firmer. Anal dilatations should continue for several
weeks or months. Some infants may become constipated. To avoid this, we encourage following a high-fiber
diet. Laxatives may be required prior to the age of potty training. In cases of severe constipation, a bowel
management program may be developed according to the particular needs of the child. The program may
include child and parental education in the use of laxatives, stool softeners, enemas, bowel training techniques
and biofeedback. Toilet training should be started at the usual age, generally when the child is around 3 years
old. Children who have had anorectal malformations generally gain bowel control more slowly, and depending
on the type of malformation and its surgical repair, some children may not be able to gain good bowel control

What is the long-term outlook for children with anorectal malformations?

Children who have had an anorectal malformation that involves a rectoperineal fistula are usually able to gain
good control over their bowel movements after surgical repair.
However, those with more complex variations of anorectal malformation may need to participate in a bowel
management program to help them achieve control over their bowel movements and prevent constipation.
Nurses and other health care professionals who work with the child's physicians can outline a program tailored
to the child's individualy.

Associated malformations:-
genitourinary
Absent, dysplastic, or horseshoe kidneys
Vesicoureteral reflux
Hydronephrosis
Hypospadias
Bifid scrotum

COLOSTOMY
Definitive repair
Anoplasty:

– Rectoperineal fistula - girls

– Rectoperineal fistula – boys
– Covered anus
– Bucket-handle malformation
Definitive repair
posterior sagittal ARP
LAPARATOMY
PSARP

NURSING MANAGEMENT:-

• Gastric suction is done after diagnosis

• Withold oral feedings & give parentral hydration before surgery.
• i/v feedings & nasogastric suction to relieve abdominal distention.
• Give breast milk after surgery.
• Avoid tension on perineal sutures.
• Placed either on side or supine with legs suspended at 90 degree from the trunk.
• Colostomy care, skin care.