Contents
- What is Anorectal Malformation (Anal Atresia or Closed Breech)?
- Why does anorectal malformation occur?
- Is Anorectal Malformation a Genetic or Familial Disease?
- Are There Types of Anorectal Malformation?
- Does Anorectal Malformation Disease Accompany Additional Anomalies?
- What are the clinical findings of anorectal malformation and how is the diagnosis made?
- How is Anorectal Malformation Disease Treated?
- Is PSARP Surgery Performed in One Session?
- How is the follow-up after the surgery of Anorectal Malformation Disease?
- What kind of problems can be encountered after surgery for anorectal malformation?
- Sexual Dysfunctions in Adulthood;
- How should toilet training be in these patients?
What is Anorectal Malformation (Anal Atresia or Closed Breech)?
It is the failure of the last part of the baby's large intestine to develop at all or sufficiently in the womb. Anorectal malformations (ARM) are among the most common congenital anomalies and account for approximately 25% of digestive system anomalies requiring surgical treatment in the newborn.
The disease occurs approximately every 1500 to 5000 live births. In general, the disease is more common in males. The high type is more common in boys (2/3 of them) and the low type is more common in girls (2/3).
Why does anorectal malformation occur?
The exact cause is not known. During the development of the baby in the womb, the last part of the intestine and the urinary system are not separated at the beginning and are in a common embryological structure. Separation occurs as the embryo completes its development. It is thought that the lack of this separation may cause this pathology.
Finally, the urorectal septum fuses with the cloacal membrane and the perineum develops, separating the cloacal membrane into the urogenital membrane anteriorly and the anal membrane posteriorly. In the seventh and eighth weeks, the anal membrane is perforated and the rectum and anal canal are formed. If perforation of the anal membrane does not occur, a pathology called anus imperforatus develops.
It is also known that experimental models of Anal Atresia have been created with Adriamycin administration and vitamin A deficiency.
Is Anorectal Malformation a Genetic or Familial Disease?
The cause of the disease is not known for certain. However, its association with a number of syndromes suggests that there may be a genetic predisposition. Familial cases are also reported.
Are There Types of Anorectal Malformation?
Yes, there are. Different classifications have been made on this subject. It can be roughly classified as low and high type and with and without fistula. It is also classified differently in girls and boys. One of the most commonly used classifications is the Stephens-Smith (Wingspread) Classification. This classification is as follows.
| ARM Type | Girl | Boy |
| High Type |
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| Intermediate Type |
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| Low Type |
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| Other Types |
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Does Anorectal Malformation Disease Accompany Additional Anomalies?
Yes, it often does. Approximately 50-60% of these patients are accompanied by additional anomalies. The incidence of anomalies is higher in men due to the high type. Urinary system anomalies (VUR, renal atresia, undescended testis) are the most common with approximately 40%, genital anomalies (uterine and vaginal anomalies) are the second most common, followed by vertebral and bone anomalies (sacral atresia, radius anomalies), cardiac anomalies (ASD, VSD) are seen approximately 15%, gastrointestinal anomalies (esophageal atresia, duedenal atresia and Hirschsprung's disease are seen approximately 10%.
What are the clinical findings of anorectal malformation and how is the diagnosis made?
The diagnosis is made with history and physical examination. The diagnosis is confirmed with some imaging methods and if there is a fistula, its level is determined and the presence of additional anomalies is investigated. The main purpose of imaging is to investigate the accompanying anomaly, to determine the level of atresia and the presence of fistula.
The history may usually include the presence of anomalies on ultrasonography in the womb. In addition, some babies, especially those with perineal fistulas, are initially undetected by inexperienced people and may be brought to the physician with constipation. In fact, sometimes patients who are not well examined during delivery are sent home and later brought in for abdominal distension or the family may notice that the baby's buttocks are closed when they want to put a suppository in the baby's buttocks.
The following findings may be present in low type atresia in physical examination; fistula at the junction of the anus and skin (perineal), pearl sign in the scrotum, sign of a suitcase handle where the anus should be, swelling where the anus should be with the baby's crying.
In high type atresia, there may be the following findings; absence of fold between the guleteal (hip) regions (flat, which we call flat battom perineum), absence or shortness of the sacrum bone, poop coming from the penis in male babies and poop coming from the vagina in female babies, no fistula mouth or absence of physical examination findings seen in low types.
Imaging methods to determine the type and level of ARM and the presence of additional anomalies in these patients are; Direct X-rays (Abdominal, Pelvis and Vertebrae), Invertogral, Abdominal and Urinary System Ultrasonography, Echocardiography and Magnetic Resonance. Magnetic Resonance may not be necessary for every patient. Some patients may even require Cytoscopy and Laparoscopy for a complete diagnosis.
How is Anorectal Malformation Disease Treated?
The definitive treatment is surgery. However, how the surgery will be performed is decided according to the type of the disease and the gender of the patient. The main goal is to create a physiologic, functional (i.e. able to hold their poop and urine, not constipated) anatomical structure. However, this may not always be possible, or repeated surgeries may be necessary. The operation is basically to perform PSARP (Posterior Sagittal Anorectoplasty) surgery. This sometimes needs to be done laparoscopically, because the new anus has to be passed through the perineal muscles, which can be done better with laparoscopy, and the fistula can be tied better with laparoscopy. Sometimes a colostomy (removal of the intestine from the abdomen), then PSARP and then closure of the colostomy may be necessary. The stages of surgery may vary according to the patient.
Is PSARP Surgery Performed in One Session?
Yes, it can be done. This is especially possible in low-type anal atresia.
How is the follow-up after the surgery of Anorectal Malformation Disease?
It may vary according to the surgical procedure and the center that performed the procedure. After about 2 weeks, the patient is dilated with anal plugs to prevent the development of stenosis. This is done within a certain program and may take 6-12 months, sometimes even longer.
What kind of problems can be encountered after surgery for anorectal malformation?
Wound infection; In patients undergoing single-session surgery, infection may develop in the rectal area due to the opening of the sutures at the surgical site or the stitches due to straining. Because the risk is high due to continuous fecal contamination. However, if this surgery is performed during the period when the baby is breastfed, the risk is much lower.
Anal stenosis; In the period following the completion of the surgery, stenosis may develop at the surgical site, especially in patients with infections, which can be corrected with dilatations, but sometimes a second operation may be required.
Skin problems; Skin problems characterized by redness, dampness, peeling of the skin surface, rash and discoloration around the skin can be seen.
Stoma ischemia and necrosis; It develops in relation to the prevention of blood circulation in the intestinal area where the stoma is opened. Stoma ischemia is generally seen in the early postoperative period. When performed properly, this risk is like zero.
Stoma retraction; It is the escape of the stoma backwards towards the abdomen. It is one of the most important complications that occur mostly in the early period of colostomy. The average probability of occurrence is between 1% and 8%.
Bleeding; During the cleaning of the stoma, some bleeding is considered normal. However, excessive bleeding is a condition that needs to be controlled.
Stoma prolapse; Prolapse is the excessive sagging of the intestine outward through the stoma. This condition occurs mostly months after the operation and the probability of occurrence is between 5% and 14%.
Parastomal hernia; Parastomal hernias are hernias that occur around the stoma. Parastomal hernia is an important late complication. The incidence is approximately 1% to 20%. Parastomal hernia is very important because of the risk of intestinal obstruction and strangulayon (intestinal knotting).
Atelectasis and pneumonia; As in any postoperative period, lung infection can develop, which can result in death as well as recovery with treatment.
Constipation; Constipation may occur in the majority of patients, but most of these may improve with treatment.
Fecal Incontinence; It is common in high types, it is more common in the absence of more than 2 vertebrae, where the perineal muscles are not developed (sulcus is not seen, it is more common in children with flat pop. It may also be caused by the failure of the large intestine to pass through the perineal muscle complex.
Urinary Incontinence; It may be due to congenital neural problems or surgery itself.
Sexual Dysfunctions in Adulthood;
Rectal Prolapse
How should toilet training be in these patients?
Toilet training of these patients should be like normal children. However, education may be delayed or poop incontinence may be seen especially in high type atresia. In these patients, poop control training and treatment should be carried out in close cooperation with the physician and the family.
*** The information given here, the content of the website is organized for the purpose of informing the visitor, especially the families. No information should be considered as advice by visitors and should not lead to any decision or action. Families should definitely have their patient examined by a pediatric surgery specialist, consult with him/her and make a decision by consulting his/her knowledge.
