What is Anal Atresia?
Pediatric Urology

What is Anal Atresia?

    Anal atresia is known as a congenital anus closure anomaly. In this condition, the baby's anus is either completely closed or has not developed correctly, preventing the normal passage of stool out of the body. It is usually detected during birth.

    The severity of this condition can vary. In mild cases, the anus may be partially closed, and it can be easily corrected with a surgical procedure. However, in more severe cases, the anus may be completely closed, and there may be issues with the normal placement of the intestines.

    Treatment typically involves surgical intervention. Doctors perform the necessary surgery to correct the intestines and create the anus. Such operations can take place in the first days or weeks of the baby's life.

    Anal Atresia: What Causes It?

    The exact cause of anal atresia is not fully understood, but it is believed to be a combination of genetic and environmental factors. This condition is associated with the abnormal development of the anus and intestines during embryonic growth. Some possible reasons include:

    • • Genetic Predisposition: Babies with a family history of anal atresia have a higher risk. However, the exact role of genetic factors has not been fully determined.
    • • Embryonic Developmental Issues: It can occur due to the abnormal formation of the anus and rectum during the baby's development in the womb. This could result from an error in embryonic development.
    • • Environmental Factors: Environmental influences are thought to contribute to anal atresia. For instance, the mother may be exposed to certain medications, toxic substances, or radiation during pregnancy, which could affect embryonic development.
    • • Syndromes: It can be associated with certain genetic syndromes. For example, babies with genetic syndromes like Down syndrome and VACTERL syndrome may have a higher incidence of anal atresia.
    • • Other Factors: Certain conditions can impact the normal development of the anus and rectum. For instance, mutations related to the PAX gene can affect the proper formation of the anus.

    The specific cause of anal atresia may vary depending on the severity and type of the condition. However, research in this area is still ongoing.

    Types of Anal Atresia

    Anal atresia can present in different types, each affecting the anus and intestines in various ways. The types can be classified as follows:

    Perineal Fistula

    This is the most common type of anal atresia, where the intestines have a normal opening from the rectum towards the anus. However, this opening does not directly connect to the anus and ends with a fistula (a tunnel-like opening) in the perineal area. Perineal fistula is typically a milder form and may be relatively easier to correct.

    Rectoperineal Fistula 

    In this type, the rectum does not have a normal opening towards the anus. Instead, there is a fistula at the lower end of the rectum that opens in the perineal area. In this case, the intestinal contents are discharged from the body through the perineal region.

    Rectoprostatic Fistula

    Here, the rectum does not have a normal opening, and there is a fistula connecting it to the prostate gland. As a result, the intestinal contents can often be expelled through the urinary tract.

    Rectovesical Fistula

    In this type, the rectum does not have a normal opening, and there is a fistula connecting it to the bladder. Consequently, the intestinal contents may be emptied into the bladder and expelled through the urinary tract.

    Rectovaginal Fistula

    In this situation, the rectum lacks a normal opening, and there is a fistula connecting it to the vagina. Consequently, the intestinal contents can be discharged from the body through the vaginal opening.

    Anorectal Agenesis (Total Atresia)

    This is one of the most severe types, where the anus has not formed at all. Though the rectum may have developed correctly, the intestines are positioned in a way that prevents the passage of stool from the body. This condition requires urgent surgical intervention.

    The treatment and outcomes for each condition can vary based on the type and severity of anal atresia, among other factors. Early diagnosis and appropriate surgical intervention can improve the child's quality of life and prevent long-term complications.

    Symptoms of Anal Atresia

    Anal atresia is a congenital condition, and its symptoms are typically evident shortly after birth. The specific signs may vary depending on the state of the anus and the level of involvement of the intestines. Some common symptoms include:

    • • Absence of Anus: The most noticeable sign is the complete closure or improper formation of the baby's anus. The absence of an anus prevents the normal passage of intestinal contents out of the body.
    • • Abdominal Distension: Babies may exhibit abdominal distension (a swollen or bloated abdomen). The intestines can become enlarged and accumulate in the abdomen since the intestinal contents cannot be expelled normally.
    • • Failure to Pass Stool and Gas: Due to anal atresia, babies are unable to pass stool and gas through the normal route. This condition can lead to a build-up of stool and gas in the baby's system.
    • • Difficulty in Stooling: If the baby's anus is partially closed or there is a fistula, passing stool may be challenging. This difficulty can lead to difficulty in defecation and stool retention.
    • • Unsuccessful Defecation: Babies with anal atresia may struggle to have successful bowel movements. They may cry, appear uncomfortable, or show signs of distress while attempting to defecate.
    • • Mucus or Blood in Stool: Babies with difficulties in stooling may have mucus or blood in their stools. This condition can arise due to irritation caused by the accumulated stool in the intestines.
    • • Vomiting: In severe cases, intestinal obstruction due to anal atresia can lead to vomiting in babies.

    While some infants may have milder symptoms, others may exhibit more severe and noticeable signs. Therefore, if there is a suspicion of atresia in a baby, it is crucial to seek immediate medical attention from a pediatric surgeon or specialized doctor.

    Early Diagnosis of Anal Atresia

    The early diagnosis of anal atresia is made shortly after birth. Newborns are examined immediately after delivery. If there is suspicion of the condition, a specialized pediatric surgeon performs a more detailed evaluation. Early diagnosis and intervention are crucial for preventing complications and ensuring more effective treatment.

    The following steps are taken for early diagnosis:

    • • Birth Examination: When the baby is born, they undergo an initial examination by the delivery doctor or nurse in the delivery ward or postnatal intensive care unit. The opening of the anus and any issues with stool passage are assessed.
    • • Pediatric Surgical Specialist Evaluation: If there is suspicion of anal atresia in the baby, a pediatric surgical specialist examines the baby and conducts a more detailed evaluation to confirm the condition.
    • • Imaging Tests: Once the diagnosis is confirmed, certain imaging tests may be conducted to assess the baby's condition and the status of the intestines. These tests may include ultrasound, contrast enema X-rays, or, in some cases, computed tomography (CT).
    • • Assessing Other Organs: Anal atresia can sometimes cause problems with other organs as well. Therefore, in some cases, other organs such as the heart, kidneys, spine, and urinary system are also evaluated.

    The assessment conducted by a specialized pediatric surgeon is essential for formulating an appropriate treatment plan. Surgical intervention is typically performed in the first few days or weeks of the baby's life to correct the intestines and ensure proper stool passage.

    Anal Atresia Surgery: Treatment Options and Approaches

    The treatment options and approaches for anal atresia can vary depending on the type, severity, and other factors. Generally, surgical treatment is performed as soon as possible after the baby's birth.

    Below are common treatment options and approaches for anal atresia surgery:

    • • Rectum and Anus Correction: In mild cases, the anus may be partially closed, or a perineal fistula may be present. In this situation, surgical intervention is performed to correct the rectum and anus. The anus is properly opened, and the rectum is repositioned to its normal position.
    • • Perineal Fistula Repair: In mild cases limited to a perineal fistula, the anus is in its normal position, but there is no proper connection between the anus and rectum. In this case, surgical intervention is conducted to repair the fistula.
    • • Rectum and Fistula Correction: In more complex cases, the rectum may not be in its correct position, and fistulas may connect to different organs. In this situation, a comprehensive surgical intervention may be required to reposition the rectum and correct the fistulas.
    • • Anorectal Agenesis (Total Atresia) Repair: In cases of total atresia, the anus has not fully developed, and the intestines cannot be corrected for stool passage. Therefore, urgent surgical intervention is necessary. Surgeons create a proper opening for the rectum and correct the intestines.
    • • Geriatric Surgery: This condition can rarely occur in adults as well. Surgical treatment in adults may be more complex compared to congenital anal atresia and may involve rectum and anus correction.

    After surgical intervention, the baby's recovery process is closely monitored, and if necessary, nutritional and care support is provided. Regular check-ups are conducted during the post-operative period to prevent potential complications and ensure the healthy growth of the baby.

    Nutrition and Bowel Habits Management in Anal Atresia

    Managing the nutrition and bowel habits of babies after surgical intervention is crucial for their healthy growth and the prevention of complications. Below are some important pieces of information regarding the management of nutrition and bowel habits after treatment:

    Nutrition Management:

    • • Breastfeeding: The best start for a baby's healthy nutrition is breastfeeding. Breast milk helps strengthen the baby's immune system, reduce the risk of infections, and meet their nutritional needs. Breastfeeding can also help stimulate bowel movements and aid in the natural passage of stool.
    • • Formula Feeding and Complementary Foods: After surgical intervention, babies may require supplementation with formula feeding or complementary foods to meet their nutritional needs. The baby's feeding program should be determined by a specialized pediatrician or dietitian after the surgical procedure.
    • • Frequent and Small Feedings: Feeding babies frequently and in small portions can help regulate bowel movements and prevent stool accumulation.

    Bowel Habits Management:

    • • Stooling Process: Different methods can be used for babies' bowel movements after surgery. In some cases, manual emptying of the bowels (rectal irrigation) may be necessary. This procedure requires guidance from trained healthcare professionals.
    • • Peristaltic Stimulation: Peristaltic stimulation techniques can be used to encourage bowel movements in babies. Gentle massage on the baby's abdomen or moving their legs as if riding a bicycle can aid in regular bowel function.
    • • Regular Monitoring: The frequency of babies' bowel movements, the consistency of stool, and other bowel habits should be regularly monitored after surgical intervention. This helps detect possible issues early and allows appropriate measures to be taken.

    Regular follow-up and proper interventions are necessary to support the baby's healthy growth and development, regulate bowel movements, and prevent complications.

    The content of the page is for informational purposes only, please consult your doctor for diagnosis and treatment.