Imperforate anus

From Wikipedia, the free encyclopedia

Jump to: navigation, search
Imperforate anus
Classification and external resources

An X-ray showing Imperforate anus

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.

Contents
[hide]

• 1 Diagnosis
• 2 Treatment
• 3 Features
• 4 Prognosis
• 5 Epidemiology
• 6 Associated anomalies
• 7 References

• 8 External links

[edit] Diagnosis
When an infant is born with an anorectal malformation, it is usually detected quickly as it
is a very obvious defect. Doctors will then determine the type of birth 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 birth.

[edit] Treatment
Imperforate anus usually requires immediate surgery to open a passage for faeces.
Depending on the severity of the imperforate, it is treated either with a perineal
anoplasty[1] or with a colostomy.

[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 persistent cloaca (from the term cloaca, an analogous orifice in reptiles and
amphibians), in which the rectum, vagina and urinary tract are joined into a single
channel.

Imperforate anus is usually present along with other birth defects—spinal problems, heart
problems, tracheoesophageal fistula, esophageal atresia, renal anomalies, and limb
anomalies are among the possibilities.[2]

Sonography can be used to determine the type of imperforate anus.[3]

[edit] Prognosis
This section does not cite any references or sources.
Please help improve this article by adding citations to reliable sources. Unsourced material may
be challenged and removed. (February 2010)

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.

For children who have a poor outcome for continence and constipation from the initial
surgery, further surgery to better establish the angle between the anus and the rectum may
improve continence and, for those with a large rectum, surgery to remove that dilated
segment may significantly improve the bowel control for the patient. An antegrade enema
mechanism can be established by joining the appendix to the skin (Malone stoma);
however, establishing more normal anatomy is the priority.

[edit] Epidemiology
Imperforate anus has an estimated incidence of 1 in 5000 births.[4][5] It affects boys and
girls with similar frequency.[6] 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.[7]

[edit] Associated anomalies

Imperforate anus is associated with an increased incidence of some other specific
anomalies as well, together being called the VACTERL association:

• V - Vertebral anomalies
• A - Anal atresia
• C - Cardiovascular anomalies
• T - Tracheoesophageal fistula
• E - Esophageal atresia
• R - Renal (Kidney) and/or radial anomalies
• L - Limb defects