DR. Sam Mutumba, a senior paediatric (children) consultant surgeon at Mulago Hospital, says Ismail Munani is suffering from anorectal malformation or imperforate anus. â€œIt is a disorder that affects the anus and rectum. It is common and can be corrected
DR. Sam Mutumba, a senior paediatric (children) consultant surgeon at Mulago Hospital, says Ismail Munani is suffering from anorectal malformation or imperforate anus. â€œIt is a disorder that affects the anus and rectum. It is common and can be corrected through surgery.â€
According to statistics, the birth defect occurs in one of every 5,000 live births and occurs more in boys.
internet site www.medicineplus.com reveals that the defect causes little or no stool to pass out of the rectum.
It occurs during the fifth to seventh week of fetal development. â€œThe 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,â€ it adds. The cause is unknown.
Mutumba says during a bowel movement, stool passes from the large intestine to the rectum and finally to the anus. â€œThe nerves in the anal canal help us sense the need for a bowel movement and also stimulate muscle activity. The muscles control bowel movement,â€ he says.
However, with a perforated anus, the anal passage may be narrow, misplaced or not present; a membrane may be present over the anal opening and the rectum may not connect to the anus.
It may connect to part of the urinary tract or the reproductive system through a passage called a fistula.
Causes for concern?
Depending on the type and severity of the malformation, a number of problems can occur:
When the anal passage is narrow or misplaced, a child may have difficulty during bowel movements. This causes constipation and discomfort.
If there is a membrane over the anal opening, the baby may be unable to have a bowel movement until surgery is done to open the membrane.
If the rectum is not connected to the anus and no fistula (abnormal connection between the rectum and urinary tract or vagina) is present, the stool cannot leave the intestines. The baby will be unable to have a bowel movement, resulting in bowel obstruction.
When the rectum is not connected to the anus but a fistula is present, stool may pass through the fistula. This can cause urinary tract infections.
Who is at risk?
Most babies with anorectal malformations have no known previous family history, but inheritance patterns exist.
Approximately 50% of babies with anorectal malformations have other coexisting abnormalities. These include:
Spinal abnormalities such as an absent vertebra and a tethered spinal cord
Kidney and urinary tract malformations such as a horseshoe kidney and duplication of parts of the urinary tract
Congenital heart defects
Tracheal and esophageal defects and disorders
Symptoms of the condition
These are classified into high and low, depending on where the bowel ends.
If the child has the a low anorectal malformation, the faeces cannot be removed from the body. This causes them to build up in the bowel, resulting into a swollen abdomen.
If the child has a high anorectal anomaly without a fistula, he or she will not be able to pass meconium and will develop similar symptoms. If he has a high anorectal malformation with a fistula, the stool comes out, usually through the vagina or the urethra in boys.
How is it diagnosed?
When a baby is born, a physician checks if the anus is open and in the proper position.
Abdominal X-rays: These provide a general overview of the location of the malformation and may help determine if it is high or low.
Abdominal ultrasound and spinal ultrasound: These examine the urinary tract and spinal column. They also provide evidence of a tethered spinal cord.
Echocardiogram: This test is performed to determine if there is a heart defect.
Magnetic resonance imaging: It diagnoses a tethered cord or spinal abnormalities. It is also used to help define the anatomy of pelvic muscles and structures.
It should be started when the child is about three years or as soon as the condition is corrected. Children who have had anorectal malformations gain bowel control slowly, and depending on the type of malformation and its surgical repair, some of them may not be able to gain bowel control.
How is the malformation treated?
It depends on the type of malformation, abnormalities and childâ€™s health. However, most infants with the disorder require surgery.
Infants with a rectoperineal malformation require an operation, which involves moving the anus to an appropriate place.
For infants with anorectal malformations without a fistula, they require operation(s) to correct the malformation:
An operation to create a colostomy is performed first. The large intestine is divided into two and passed through small openings in the abdomen
The upper section allows stool to pass through the opening into a collection bag. Intestinal mucus exits through the opening on the lower part
The operation does not impair digestion and diverting the stool minimises infection
Healthcare workers can help parents learn how to take care of the colostomy
The next operation creates a connection between the rectum and the new anal opening
The colostomy remains in place for six to eight weeks. The area can heal without being infected. It helps the patient undergo a dilation of the anus
The colostomy is closed in another operation at least six to eight weeks later. After a few days, the child can pass stool through the rectum.
To avoid constipation, follow a high-fibre diet or use laxatives prior to the age of potty-training
The malformation can damage the pelvic muscles and the urethra.
Facts on a perforated anus