The Colorectal Center

for Children

This condition is found only in female infants. In this anomaly, the anal opening exists but is not located in its anatomical position; rather, it is very close to the urethra.

Explanation of Terms:

Fistula: A connection or passage between two organs.

Vestibule: The area in female infants that lies immediately behind the urethral opening between the labia minora.

Diagnosis:

Diagnosis of this condition is made during the physical examination of the newborn shortly after birth. It is very rare for this condition to be detected during prenatal tests. Additionally, the exact cause responsible for this anomaly is unknown, and therefore genetic tests are not helpful.

In some cases, initially, the medical team may suspect a high imperforate anus, and the exact nature of the anomaly is identified only when stool passes through the fistula.

Evaluation and Treatment:

During the first days after birth, the evaluation focuses on the anomaly itself and the assessment of any other associated defects (see "Anorectal Malformations"). Since the anal opening is present in this condition, it is essential to evaluate if it is narrow or wide enough to allow for proper defecation. This evaluation is done through a physical examination using dilators to measure the diameter of the opening. In many cases, the opening is narrow and requires dilation, which starts in the early days after birth and continues for several weeks. Parents are taught how to perform the dilations at home.

After a thorough evaluation for other malformations and successful dilation, the baby can be discharged and will continue to receive follow-up care from the surgical team. In rare cases, when dilation is not sufficient or cannot be performed, or if complications arise, the baby may undergo a colostomy in the early days of life.

Surgical Procedure:

The definitive surgical treatment for this condition is usually performed around the age of three months. The surgical procedure is called anoplasty or PSARP (Posterior Sagittal Anorectoplasty). It involves relocating the rectum and fistula to their proper positions within the muscle complex, creating a new anus between the rectum and the vestibule.

The surgery is done through a perineal approach (around the anal opening). Precise separation of the rectum from the urethra without damaging either organ is crucial for successful outcomes. The surgeon also ensures that the new anal opening allows for better control and the potential for normal bowel movements in the future.

The baby typically leaves the operation with stitches that dissolve on their own and a urinary catheter. Recovery is usually straightforward, and post-operative pain is minimal. After the surgery, it is essential to maintain cleanliness to prevent infections and avoid any rectal manipulation that might damage the surgical site.

Approximately two weeks after the surgery, the baby will require dilation, as during the healing process, there is a tendency for the new anal opening to narrow. Parents are instructed on how to perform the dilation and provided with appropriate dilators. This dilation is done daily for about three months, with regular follow-up care.

During the postoperative period, the significant complication that may arise is infection at the surgical site, which can usually be managed with local treatment. In rare cases, additional surgery may be required, and in exceptionally rare cases, colostomy may be performed temporarily to allow the surgical site to heal properly.

Around two weeks after the surgery, the baby may require additional dilations since during the healing process, there is a tendency for the new anal opening to narrow. Parents are instructed on how to perform the dilation and are equipped with appropriate dilators. This dilation is performed daily for about three months under regular medical supervision.

Anorectal malformations encompass a wide range of defects involving the anus and rectum. The Pediatric Colorectal Center at Shaare Zedek Medical Center is a multidisciplinary center known for its expertise in treating both surgical and medical aspects of these malformations in children.

Physiological Background:

The digestive system is essentially a tube that starts from the mouth and ends at the anus. Food passes through this tube, undergoes processing and absorption, allowing the body to utilize its nutritional components while eliminating waste as stool. Imperforate anus is a condition where the anal opening, known as the anus, is obstructed. In many cases, it is not properly located, such as being positioned in front of the anatomical location on the skin or connected to the urinary system.

Apart from the challenges related to bowel movements when there is no proper anus, additional issues may arise. For instance, if the anus is not in the center of the sphincter complex, long-term control over bowel movements may be affected. When there is a connection to the urinary system, infections can occur due to this improper connection.

Incidence:

This is a relatively rare condition, occurring in about one in 5000 births. The cause of the anomaly is unknown, and except for a few rare cases, there is no known genetic problem associated with this condition. It is worth noting that this malformation often occurs together with a group of other defects, which must be ruled out in the days after birth. These associated defects may include heart malformations, urinary tract anomalies, and skeletal issues, described as VACTER(L) ASSOCIATION.

VACTER(L) stands for the places where other defects may be found: Vertebra (spine), Anus, Cardiac (heart), Tracheo-Esophageal (windpipe and esophagus), Renal (kidneys), and Limb (extremities). Hence, with the detection of the malformation, various imaging tests should be performed to rule out or identify any additional defects. Treatment will depend on the specific and unique characteristics of each individual malformation, which can range from mild and requiring only regular follow-up care, to complex cases that necessitate multiple surgeries and coordination with other medical teams for long-term monitoring.

Diagnosis:

In a minority of cases, there may be a suspicion of malformation during prenatal ultrasound examinations. However, in most cases, the diagnosis is made after birth during the physical examination of the infant, identifying either the absence of an anus or the misplaced position of the anal opening.

Treatment:

Given the broad spectrum of malformations, each case requires a tailored approach. In most cases, treatment involves surgery, but in mild and specific instances, surgery may not be necessary, and instead, careful monitoring and follow-up in the clinic are sufficient.

The surgical correction is called anoplasty, involving the creation of a functional anus. The procedure is delicate and must be carried out in a highly sensitive anatomical area responsible for controlling urination, defecation, and sexual function. The precise placement of the intestine between the sphincter muscles is crucial for optimal control of bowel movements. Factors influencing this ability to control are of significant importance for the baby's future quality of life.

In many cases, the surgical treatment will be conducted in multiple stages. The initial stage may involve relieving the obstruction of the digestive system and the risk of urinary infections by creating a colostomy, redirecting the feces through an abdominal stoma. After about three months, with a complete assessment of the malformation's characteristics through imaging, the second stage takes place, involving the actual repair of the malformation and the creation of a functional anus. The third stage involves the closure of the colostomy, completing the surgical treatment and restoring the continuity of the digestive system.

Before surgery, the preparation phase is critical and significantly impacts the success of the surgical outcome. Precise evaluation should be conducted by a skilled team of specialists, including surgeons and radiologists. After the surgeries, regular follow-up care is essential, with varying frequency, to maximize control over bowel movements.

This is the simplest malformation among the anorectal malformations.

In this condition, the anal opening is present but not located in its anatomical position. The anal opening may be closer to the urethra (in girls) or to the scrotum (in boys).

"Fistula" refers to a connection between two organs, and "perineum" is the area of skin between the anal opening and the urethra (in girls) or scrotum (in boys).

This malformation is sometimes referred to as "Anterior Anus," although this term is not entirely accurate since children with this malformation do not have a true anus or well-developed anal canal. Instead, there is a structure known as the "anal dimple," which includes a gradual transition between the intestine and the skin, with specific muscles (sphincters) and a defined sensory region.

Diagnosis:

The diagnosis of this malformation is usually made during the physical examination of the newborn after birth. It is very rare for this condition to be detected prenatally. The specific genetic cause responsible for this malformation is not known, so genetic tests are not helpful.

Assessment and Treatment:

The first few days after birth are dedicated to evaluating the malformation and checking for any additional anomalies (see "Anorectal Malformations"). Since there is a functioning anal opening, the initial assessment includes determining whether the opening is narrow or wide enough for proper bowel movements. This assessment is performed through a physical examination using probes to measure the diameter of the opening. In many cases, the opening is narrow, and dilations are required.

Dilations begin in the first days after birth and are performed by the surgical team until the opening reaches an adequate diameter for proper and complete bowel movements. During this process, parents are taught how to perform the dilations at home. After a few days of evaluations for additional malformations and successful dilations, the child will be discharged home, and the parents will continue with the dilations under medical supervision for a few more weeks.

Follow-up After Discharge:

After discharge, parents will attend follow-up visits at the Pediatric Surgery Clinic at the appointed times. During the follow-up period, the decision for surgery will be made.

Surgical Treatment:

The decision for surgery is not straightforward. If the distance to the urethra is adequate, and most of the opening is surrounded by sphincter muscles, and the child shows good control, surgery may not be necessary, and close monitoring will be recommended. However, surgery will be considered if the distance between the anal opening and the urethra is very short, and the anal opening is not adequately surrounded by sphincter muscles.

The surgical treatment involves repositioning the rectum and the "anal dimple" to the correct position and constructing a perineal body between the new anal opening and the urethra or scrotum. This integration aims to improve control and may facilitate future bladder function.

The surgery requires skilled and experienced hands since precise separation between the rectum and the urethra or scrotum without damaging both organs is crucial. The new anal opening is meticulously located to allow optimal control.

Following the surgery, the baby will have visible stitches that dissolve on their own and a urinary catheter. Healing is usually straightforward, and discomfort is minimal.

After surgery, the area should be kept clean to prevent infection, and no rectal manipulations should be performed to avoid disturbing the surgical site. For babies who undergo surgery without a stoma, they will be on a fasting diet for about a week, and feeding will be done through the lower end to minimize stool passing through the surgical wound and reduce the risk of wound infection.

About a week after surgery, assuming everything progresses well, the baby will be discharged home. Two weeks after surgery, dilations are required to prevent stenosis (narrowing) of the new anal opening. Parents will be taught how to perform the dilations and will be provided with suitable dilators. Dilations will be performed daily for about three months, with medical follow-up during this time.

Patients from all over the country turn to our colorectal center for follow-up and surgical treatment of colorectal diseases. Among these conditions is Hirschsprung's disease, primarily treated through surgery. The prevalence of Hirschsprung's disease is approximately 1 in 4000 births, and our department is one of the leading centers in the country for treating this condition, with 1-2 children undergoing Hirschsprung's surgery each month.

Physiological Background:

The digestive system is a long tube through which food passes from the mouth towards the anus. During its passage through the small intestine, essential components from the food are absorbed, and in the large intestine, primarily fluid absorption occurs, while the remaining content is eliminated as stool through the anus.

To facilitate the advancement of food in the digestive system, peristaltic movements (contractions and relaxations) propel the content along the entire gastrointestinal tract. These movements are controlled by nerve cells (ganglia) located in the intestinal wall. In Hirschsprung's disease, nerve cells fail to progress to a specific point in the large intestine, resulting in a lack of normal innervation. Consequently, the affected segment remains continuous from the anus to that point.

This means that there is a region in the intestine, usually towards the end of the colon, where nerve cells (ganglia) are missing, resulting in a lack of progress of the intestinal content beyond that point. As a result, the intestine closest to this region attempts to push the content toward the affected area (lacking ganglia) but fails, leading to dilation and accumulation of stool. This, in essence, causes a bowel obstruction.

Clinical Manifestations:

The main expression of bowel obstruction is a lack of bowel movements, abdominal distension, and subsequently vomiting. These findings often appear in the first few days of life. A baby who does not pass meconium (first bowel movements) in the first 24 hours of life would prompt the consideration of Hirschsprung's disease. Sometimes the symptoms may present for a few weeks, months, or even in rare cases, several years.

Diagnosis:

The diagnosis is made using imaging studies (X-ray with contrast material) and a biopsy that confirms the absence of nerve cells (ganglia) in the affected segment of the intestine.

Treatment:

The initial treatment includes frequent washouts through the anus, allowing regular emptying of the intestine even in the absence of intestinal motility. After confirming the diagnosis of Hirschsprung's disease, we will guide you, the parents, on performing these washouts at home, and you will be discharged with continued washouts and medical follow-up until the surgery is performed.

Additionally, preventive antibiotic treatment, called Flagyl (metronidazole), will be initiated.

Surgical Treatment:

If the diagnosis is made around the time of birth, and follow-up allows for it, we recommend performing the surgery at around 3 months of age. The aim of the surgery is to remove the affected segment of the intestine (lacking ganglia) and connect the normally innervated intestine to the anus. The surgical approach is determined individually, based on the preoperative diagnosis and suspicion of the extent of the disease. In most cases in our department, the abdominal approach is performed using minimally invasive laparoscopy, which enables faster healing with less pain and better cosmetic results.

Follow-up:

It is important to know that patients with Hirschsprung's disease are more susceptible to severe inflammation of the intestine (enterocolitis), which manifests as a lack of bowel movements, abdominal bloating, and fever. Rapid intervention with washouts through the anus is required to facilitate bowel emptying.

After surgery, there is an extended long-term follow-up by our department, with regular visits to the operating surgeon and continuous communication with the coordinating nurse. This follow-up is maintained throughout the child's growth process.

The following information pertains only to a condition found in male infants where a baby is born with an imperforate anus, meaning there is no opening for the passage of stool. In such cases, the rectum (the lower part of the intestine) may reach almost to the skin (low anomalies) or be connected to the urinary passages (high anomalies).

A condition where the rectum is connected to the urinary passages is called "Imperforate Anus with Recto-Urethral Fistula." Fistula refers to a connection between two organs. The urethra is the tube through which urine flows from the bladder towards the penis.

Diagnosis:

The diagnosis of this condition is usually made immediately after birth through a physical examination of the newborn. It is very rare for this condition to be detected in prenatal tests. The specific cause of this defect is not known, so genetic tests are not helpful in determining the cause.

Assessment and Treatment:

The first 24 hours are devoted to evaluating the defect and assessing the presence of any other abnormalities (see "Anorectal Malformations"). Since there is no opening for stool passage, the problem needs to be addressed promptly. During the first day, the position of the rectum (high or low anomaly) is assessed, and the surgical treatment is determined accordingly.

For low anomalies, where the rectum is close to the skin, a surgical procedure to build a new anal opening is performed on the second day of life. The surgery is called "Anoplasty" and involves creating a new anal opening at the center of the muscles (sphincter).

For high anomalies, where the rectum is distant from the skin and may be connected to the urinary passages, a surgical procedure called "Colostomy" is performed on the second day of life. Colostomy involves creating an opening in the abdomen through which a loop of the large intestine is brought out, and a bag is attached for the baby's stool to be collected. Afterward, a definitive surgery for reconstruction of the anal opening is performed later on.

Follow-up:

After discharge from the hospital, regular medical check-ups are necessary to monitor the healing process and to ensure proper development. For low anomalies, follow-up includes regular anal dilations to prevent narrowing of the new anal opening. For high anomalies, an X-ray test is recommended around three months of age to evaluate the anatomy before the definitive reconstructive surgery, called "Posterior Sagittal Anorectoplasty (PSARP)."

In conclusion, the treatment of imperforate anus involves surgical procedures to create a functional anal opening and ensure proper bowel function for the baby. Regular medical follow-up is essential to manage any complications and achieve the best possible outcome for the child's health and well-being.