Imperforate anus
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| ICD-10 | Q42.3 |
|---|---|
| ICD-9 | 751.2 |
| OMIM | 301800 207500 |
| MedlinePlus | 001147 |
| eMedicine | ped/1171 ped/2923 |
| MeSH | D001006 |
An imperforate anus or anal atresia is a birth defect in which the rectum is malformed. Its cause is unknown.
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[edit] Summary
When an infant is born with an anorectal malformation, it is immediately detected as it is a very obvious defect. Doctors will then determine the type of defect the child was born with and whether or not there are any associated malformations. It is important to determine the presence of any associated defects during the newborn period in order to treat them early and avoid further sequelae. There are two main categories of anorectal malformations: those that require a protective colostomy and those that do not. The decision to open a colostomy is usually taken within the first 24 hours of life.
Imperforate anus is usually present along with other birth defects—spinal problems, anal atresia, heart problems, tracheoesophageal fistula, esophageal atresia, renal anomalies, and limb anomalies.
[edit] Features
There are several forms of imperforate anus:
- A low lesion, in which the colon remains close to the skin. In this case, there may be a stenosis (narrowing) of the anus, or the anus may be missing altogether, with the rectum ending in a blind pouch.
- A high lesion, in which the colon is higher up in the pelvis and there is a fistula connecting the rectum and the bladder, urethra or the vagina.
- A cloaca (named after the analogous orifice in amphibians), where the rectum, vagina and colon are joined into a single opening.
Imperforate anus is usually present along with other birth defects—spinal problems, anal atresia, heart problems, tracheoesophageal fistula, esophageal atresia, renal anomalies, and limb anomalies are among the possibilities.
[edit] Treatment
Imperforate anus usually requires immediate surgery to open a passage for faeces. Depending on the severity of the imperforate, it is either treated with a perineal anoplasty or a colostomy: a surgical procedure that involves connecting a part of the colon onto the anterior abdominal wall, leaving the patient with an opening on the abdomen called a stoma. This opening is formed from the end of the large intestine drawn out through the incision and sutured to the skin. After a colostomy, feces leave the patient's body through the stoma, and collect in a pouch attached to the patient's abdomen which is changed when necessary.
[edit] Prognosis
With a high lesion, many children have problems controlling bowel function and most also become constipated. With a low lesion, children generally have good bowel control, but they may still become constipated.
[edit] Epidemiology
Imperforate anus has an estimated incidence of 1 in 20,000 live births. It affects boys and girls with equal frequency. However, imperforate anus will present as the low version 90% of the time in females and 50% of the time in males.
Imperforate anus is an occasional complication of sacrococcygeal teratoma.
[edit] References
- Texas Pediatric Associates. "Imperforate anus." Retrieved 13 July 2005.
- MedLine Plus. "Imperforate anus." Retrieved 13 July 2005.
- Colorectal Center, Cincinnati Children's Hospital Medical Center. "Anorectal Malformations / Imperforate Anus." Retrieved July, 2005.
- Care My Colostomy Org (NGO) INDIA Anorectal Malformation & associated birth defects "Anorectal Malformation & associated birth."
[edit] External links
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