Anorectal atresia: Description, Causes and Risk Factors:Anorectal atresia or stenosis is the term used to describe a group of rare congenital conditions of the lower gastrointestinal tract (bowel). It can range from absence of these structures to malformations of the anus and rectum (called colon, rectum or anal atresia). If these lower gastrointestinal structures are present but only partially open to the passage of stool the condition is called colon/rectum/anal stenosis. In anal stenosis the anus will look normal externally but it will not be connected to the bowel.While anal atresia/stenosis can occur as an isolated defect, it is often associated with other birth defects. Anal atresia/stenosis is often associated with a group of defects called the VACTERL syndrome; this syndrome causes vertebral, anal, cardiac, trachea, esophageal, renal, and limb abnormalities. This defect can also be associated with chromosomal abnormalities, particularly trisomy 21.While some studies failed to find a significant association between race/ethnicity and anal atresia/stenosis, several studies have reported the anal atresia/stenosis rate to be slightly lower in African-Americans and another reported the rate of rectal/anal atresia to be higher in Europeans and South Asians than in Caribbeans. A New York study found atresia/stenosis of the anus or rectum to be significantly lower among Mexican-born Hispanic women when compared with Hispanic mothers born in the U.S., Cuba, or Central/South America.Anorectal atresia or stenosis occurs in about 3 of 10,000 live births, with slightly more males affected. Imperforate anus occurs in 1 of 5000 live births.Symptoms:With anal atresia, any of the following canoccur:The anal passage may be narrow or not inthe normal location.
A membrane may be present over theanal opening.
The rectum (the end of the colon) maynot connect to the anus (the openingwhere stool exits the body).
The rectum may connect to part of theurinary tract or the reproductive systemthough a passage called a fistula, and ananal opening is not present.
Diagnosis:An anorectal atresia is easily diagnosed right after birth, because it's rather difficult to overlook such an obvious defect. Imperforate anus is usually present along with other birth defects, such as spinal problems, heart problems, tracheoesophageal fistula, esophageal atresia, renal anomalies, and limb anomalies. It is important to determine the presence of any of these associated defects during the newborn period in order to treat them early and avoid future complications.Sonography can be used to determine the type of imperforate anus.Treatment:Anorectal atresia is a rare condition, and there is no standardized recommended management in the literature. The operative management with the endoscopic and transanal approach protects and uses all elements contributed to fecal continence. The method is safe because of the good view, thanks to the light from the video-endoscope. The layers in between the rectal endings are pushed together under control, with both good visibility and working space so there is no risk of damage to nerves or other pelvic organs. In the child here reported the distance between the proximal and distal rectal ends was quite long, and therefore there should be a concern and care taken that the urethra could be pushed down and injured. A low rectal anastomosis can imply a certain risk of stricture. However, this can be avoided with regular rectal dilatation.NOTE: The above information is for processing purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.
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