Anorectal malformation

Advanced and less invasive treatments

Anorectal malformations are congenital disorders in which the anus and rectum do not develop or are not located in the usual way.
Their severity and characteristics are variable, and they can affect bowel movements.

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What is it?

Anorectal malformation, classically known as anal atresia or imperforate anus, is a congenital malformation (present from birth) that affects the final portion of the digestive tract, the rectum and anus. These patients are characteristically born without an anal opening or with a malformed anus that ends in a small fistula in the perineum.

Between 50-60% of children with anorectal malformation (ARM) will also present other anomalies that affect the urological system (the most frequent), gynecological system, heart, spinal cord and, sometimes, the esophagus and upper and lower limbs.

There are several types of anorectal malformation, among which the following stand out :

  • In boys and girls: perineal fistula, AMR without fistula, anal stenosis, rectal atresia, cloacal exstrophy (AMR, bladder exstrophy and omphalocele).
  • Only in children: rectourethral fistula (bulbar and prostatic) and rectovesical fistula.
  • Only in girls: rectovestibular fistula, rectovaginal fistula, cloacal malformation.

The main symptom in newborns with meconium aspiration syndrome (MAS) is the absence of meconium passage at birth. Meconium is the first stool passed by a newborn shortly after birth. In patients with a small fistula, there may be partial passage of meconium.

In both cases, this leads to intestinal obstruction requiring surgical treatment within the first few hours of life in most cases. Newborns may experience vomiting, feeding difficulties, or abdominal distension due to the accumulation of stool and gas in the intestine.

The incidence of anorectal malformation (ARM) is 1 in 5000 live births, and its cause is multifactorial. It is believed that a combination of genetic and environmental factors must be present for the development of this malformation.

Chromosomal abnormalities have been identified in 5-10% of patients with anorectal malformation, affecting up to 17 different chromosomes. This suggests that multiple genes are involved in the development of the anorectal region. Several congenital syndromes have anorectal malformation as one of their clinical components. These include Down syndrome (trisomy 21), Currarino syndrome (anorectal malformation, sacral defect, and presacral mass), Townes-Brocks syndrome (anorectal malformation and hearing and kidney abnormalities), and VACTERL association, among others.

Only 15% of anorectal malformations (ARMs) are diagnosed prenatally during pregnancy, and the vast majority of these are complex: rectovesical fistula in males and cloaca in females. This is because these malformations are the ones that present the most associated anomalies, and these anomalies (usually renal and cardiac anomalies) are identifiable in utero. Only 3% of isolated ARMs (without associated malformations) are diagnosed prenatally.

The vast majority of children are diagnosed within the first few hours of life . The diagnosis of ARM is primarily clinical, based on a detailed physical examination that varies considerably from patient to patient depending on sex and the type of malformation.

In all patients with aortic arch malformation (AAM), several complementary tests should be performed within the first 24 hours of life, before any surgical decision is made. These tests aim to identify any associated conditions that could affect medical management and surgical treatment. It is important that the diagnosis be made by pediatric surgeons experienced in this type of malformation to avoid diagnostic errors that could lead to incorrect treatments with consequences for future continence.

Diagnostic tests for anorectal malformation (ARM) include :

  • Chest X-ray: to rule out rib and vertebral anomalies and esophageal atresia.
  • Abdominal X-ray: to rule out the diagnosis of duodenal atresia and as in the previous case it is useful to identify abnormalities of the thoracic and lumbar spine.
  • AP and lateral radiograph of the sacrum: to rule out sacral abnormalities and to be able to calculate the sacral index that helps us to establish a future prognosis of continence.
  • Spinal ultrasound: to rule out spinal cord abnormalities.
  • Abdominal ultrasound: to rule out kidney and urinary tract abnormalities.
  • EchocardiogramTo rule out cardiac abnormalities.

Regardless of the type of malformation, 100% of patients require an assessment by a pediatric surgeon who will determine the appropriate surgical treatment based on the patient's physical examination and general condition.

The most frequently performed treatments are :

  • colostomyA stoma (artificial opening) is created that temporarily diverts the colon to the abdominal wall so that the patient can evacuate until the time of the definitive reconstruction.
  • AnoplastyDefinitive repair in these patients is scheduled between 4 and 6 months of age. The most commonly used surgical technique is the posterior sagittal anorectoplastyIn this procedure, an incision is made in the midline between the buttocks to identify the muscle complex (the sphincter) and place the "new anus" in the center of it to maximize the possibility of continence.

Once the patient has recovered from the procedure and the anoplasty has healed properly, the colostomy will be closed, approximately 2-3 months after the anorectoplasty.

In some cases (not all), parents may need to dilate the anoplasty at home until the colostomy is closed. This is done to prevent the newly reconstructed anus from narrowing due to the physiological healing process.

  1. Primary anoplastyThis type of intervention is reserved for the most severe malformations. mild or low which allow for definitive repair in the neonatal period without the need for a colostomy.

Monitoring and forecasting

All patients with anorectal malformation require long-term follow-up as they may develop constipation or fecal incontinence from an early age:

Constipation in these patients can paradoxically manifest itself with multiple small bowel movements , which is known as encopresis or overflow incontinence.

It requires aggressive treatment with laxatives to prevent future complications due to the dilation and accumulation of stool in the rectal ampulla, causing what is known as a "megarectum." The most commonly used laxatives are stimulant laxatives to promote colonic motility, along with fiber to increase stool volume and consistency.

Fecal incontinence in acute renal failure (ARF) is present in patients with "high" malformations, such as rectovesical fistula or long canal cloacas, or in patients with spinal cord malformations, such as tethered cord. This incontinence can be treated with intestinal transit slowers or with retrograde (rectal) or antegrade (appendicostomy) enemas .

There are several developmental milestones that are very important in monitoring patients with AMR. These are the age approaching bowel and bladder control, which is later in children with AMR, between 2 and 5 years of age, and adolescence.

Due to the wide variety of ARM types and associated anomalies, these patients should be evaluated by pediatric surgeons and urologists specializing in these types of diseases to ensure appropriate treatment and minimize the impact on quality of life.

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