Imperforate Anus

Classification
Imperforate Anus is an abnormality of the anus and rectum that is present at birth. The infant is born without a normal rectal opening. Another name for imperforate anus is "anorectal anomaly." In most cases the imperforate anus is obvious on the first day of life as the infant has no anal opening or, the rectal opening is abnormally placed. Occasionally infants are not diagnosed until several months of age. There is variation in the degree of abnormality of the rectum. It may vary from a low imperforte anus where the rectum may be in the normal location but is too tight to allow the infant to have a bowel movement; to an intermediate imperforate anus where the opening is too close to the urethra; to a high imperforate anus where the rectal opening is completely absent. The most common of these anomalies are depicted in Figure 1.

Occurrence
Anorectal malformations occur in one in 5,000 live births. There is no known cause. Anorectal malformations occur slightly more commonly in males. Males are twice as likely to have a high or intermediate anorectal abnormality. Normally, while the fetus is still developing, the intestine descends through the abdominal cavity to the rectal opening, ending at the rectal sphincter. This sphincter contains the nerves and muscles necessary to sense and control bowel movements. With an imperforate anus the intestine stops at some level before it reaches the rectum. This is referred to as an imperforate anus or an anorectal anomaly.

Diagnosis
A thorough history and physical examination are necessary for the surgeon to make a diagnosis and develop a treatment plan. It may be necessary to obtain additional diagnostic testing. Each type of anorectal malformation requires a different operation and medical management.

History

The surgeon will ask questions regarding frequency of stools, passage of meconium and, straining with stooling.

Physical examination
The Pediatric Surgeon examines the abdomen and visually locating the rectal opening. If the rectal opening is identified, it may be probed with a finger or a surgical instrument. With a low imperforate anus, the physician will usually see an anal opening which varies in location on the perineum and size. However, a child with a high imperforate anus may have a perineum with a flat, or "rocker bottom" appearance.

Radiological Tests
May be needed to identify the child's anatomy. These tests include abdominal x-ray, a barium enema or, a "fistula-gram."

Exam under anesthesia

Children with intermediate or high imperforate anus may require an exam under anesthesia to complete the diagnosis.

Associated Anomalies
About one half of the children with an imperforate anus have other associated medical problems. Once the diagnosis of imperforate anus is made, other tests are done to look for these problems. They often use the term "VACTERL work up" to identify some of the medical problems they are looking for. "A" is for "anus" and the child has "imperforate anus" Potential Problem "V" Vertebral Abnormality (butterfly vertebrae, hemi-vertebrae) "C" Cardiac, Heart Abnormality Cardiac ECHO (VSD, ASD, PDA) "R" Renal, Kidney abnormality (solitary kidney, horse shoe kidney) "TE" tracheoesophogeal abnormality "L" Limb deformity Tests Performed Spinal ultrasound, Spinal x-ray Cardiac ECHO Renal ultrasound, Voiding cystourethra-gram (VCUG) Physical examination Physical examination, x-rays

Upon completion of these tests the physician will make the diagnosis. The anatomy may be very complex in children with imperforate anus. The most common classification system includes:

Low Imperforate Anus

Description The anal opening is abnormally located on the perineum, not at the rectal sphincter. The anal opening is described as a "fistula." The mildest case is anal stenosis, where the anal opening is in the correct location but too tight to allow passage of stool. In girls the fistula can be on the skin (cutaneous), or on the labia (vulvar). In boys all of the fistulae are on the skin of the perineum (anocutaneous). The fistula may are of the low variety be close to the normal position or as far forward as the scrotal sac. 95% of female malformations Treatment of low imperforate anus

Initial treatment involves making the fistuous opening large enough so the child can have regular bowel movements without straining or constipation. The stool will need to be very soft to pass through this small opening. A stool softener may be prescribed to ensure that the child does not strain or become very constipated. This is done in the weeks or months before the operation. A low imperforate anus is repaired with an anoplasty. This is an operative procedure done to move the fistula opening back to the anal sphincter. It takes approximately two hours of operative time and usually the infant can go home later the same day. Post-operative Care The infants stooling pattern must be monitored closely. The infant must have very soft stools and avoid straining with bowel movements. Constipation must be avoided, as it will be uncomfortable for the infant. Medication to keep the stool soft may be prescribed as well as several days of antibiotics. Rectal dilation may also be prescribed. The infant will be evaluated in the office several weeks post operatively. At that time the surgeon will probe the new anal opening with a finger or with a Hegar dilator (a metal dilator). The infant will require dilation in the clinic and possibly at home. This is important, as it will keep the anal opening big enough to avoid constipation and straining.

High Imperforate Anus and Intermediate Imperforate Anus

Description The lowest part of the intestine ends as a fistula, in or near the vagina in girls, and in the urethra in boys (85%). Anatomically, it ends above the level of puborectalis portion of the levator ani

muscle. There is no visible rectal opening and the infant cannot pass any bowel movement. There may be meconium in the urine and the perineum will have a flat or "rocker bottom" appearance. The majority of male anomalies are high. Treatment If unable to pass stool, the infant is taken to the operating room and a colostomy is created. This is usually done within the first day of life. A colostomy is a surgically created intestinal opening on the abdominal wall. This allows the infant to have normal bowel movements and relieves the bowel obstruction. A pouch or bag is worn over the colostomy to catch the stool. No anal opening is created at this time. The infant is not big enough or strong enough to undergo this operation. Definitive operation is done when the surgeon determines the infant can best tolerate the procedure, when the infant is a minimum of three months of age.

Posterior Sagittal Anorectal plasty (PSARP)

The name of the procedure describes the anatomy and the operative procedure in medical terms. Posterior: situated in the back part of the body. The operative approach is from the infant's bottom. Sagittal: anatomic description of the area near the new rectum. Anorectal: pertaining to the anus and rectum. Plasty: plastic surgery. The incision is made from the exposed rectal opening (fistula) to the rectum. The true rectal sphincter, containing the rectal nerves and muscles is identified and the fistula is brought down and sutured to the rectum. This creates anal opening where the infant's rectal muscles and nerves are located, in order to maximize the infant's ability to control bowel movements in the future. The colostomy is not closed during this operation. The infant will continue to stool through the colostomy to allow the new operative site to heal. Pre-operative It is critical that the infant receive a thorough cleaning of the bowel prior to the operation (bowel prep). This will minimize the chance of infection. The bowel prep includes a clear liquid diet, laxatives and oral antibiotics. The bowel prep is done at home or the infant may be admitted to the hospital if intravenous fluids are necessary.

Second operation: Colostomy closure

About eight weeks later an operation will be done to close the colostomy. The anastomosis created at the PSARP operation must be completely healed. This operation takes approximately 90 minutes and only requires a several day hospitalization. Preoperative preparation Preoperatively the infant will require a bowel prep, including clear liquid diet, oral antibiotics and laxatives. Postoperative The child must be monitored closely for regular bowel movements and minimal straining. Stool softeners may be prescribed. Initially the infant may stool with each diaper change. It is common

for the child to develop a diaper rash. Prescription diaper ointment may be prescribed to prevent diaper rash.

Long Term Follow up

Children with imperforate anus must be followed by for most of their lives. Greater than 95% of those who have had a simple anoplasty for a low-lying lesion are continent, but constipation is a frequent problem and must be managed. In children who have had a PSARP performed, the results in terms of continence are directly related to the anomaly. 65% to 75% of children with intermediate and high anomalies report satisfactory continence, which usually includes the need for a bowel management program.

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