Anorectal malformations | Specialists and information

Leading Medicine Guide Editors
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Leading Medicine Guide Editors

Colon malformations or anorectal malformations are congenital abnormalities of the rectum/rectum in children. Very often those affected suffer from so-called anal atresia, i.e. the external anal opening is missing. There are often connections(fistulas) between the rectum and the urinary system.

Without surgery, the affected children die within days. Early surgery is therefore the only sensible treatment option.

ICD codes for this diseases: Q42

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Brief overview:

  • What are colorectal malformations? Congenital, serious malformations in the area of the rectum or rectum in children.
  • Causes: The condition develops in the womb, but the causes are unfortunately unknown.
  • Frequency: An estimated 1 in 4000 to 5000 newborns are born with a colon malformation, boys appear to be affected slightly more frequently. Sometimes there are additional malformations of other organs.
  • Symptoms: If there is no anal opening, a bloated abdomen appears after a few days, followed by severe belching, vomiting and regurgitation.
  • Diagnosis: Comprehensive physical examinations after birth can provide clues. An X-ray of the abdomen and, if necessary, an ultrasound examination of the rectum or an MRI can confirm the diagnosis.
  • Treatment: Early surgery, often on the first day of life, saves affected children. After an artificial bowel outlet has been placed, an artificial anus is inserted later.
  • Prognosis: In most cases, those affected can lead a largely normal life. However, smear marks in the underwear often cannot be completely avoided.
  • Specialists: Experts in pediatric surgery or general surgery are responsible for the treatment of colon malformations.

Article overview

How common are anal atresias?

Colonic malformation (anal atresia) is a prenatal developmental disorder, i.e. it develops in the womb in the unborn child. However, the exact cause of this disorder is still unknown.

Overall, boys appear to be slightly more frequently affected by colon malformations than newborn girls. However, there is very little data on the prevalence of colon malformations as there are no central registers. It is estimated that 1 in 4,000 to 5,000 newborns are born with anorectal malformations. Up to 85% of anal atresias are also characterized by a fistula through which a connection is made in the area of the urinary bladder.

In some cases, colon malformations occur together with other developmental disorders, such as congenital heart defects, urinary tract diseases, malformations of the spine or damage to the child's central nervous system.

Dickdarm Anatomie

The large intestine © bilderzwerg #62905994 | AdobeStock

What symptoms are associated with colon malformations?

Due to the lack of an anal opening, newborns develop a bloated stomach just a few days after birth. This is accompanied by signs of intestinal obstruction (= bowel obstruction). The children then suffer from severe regurgitation, followed by vomiting of stomach contents and, finally, vomiting of stool.

Without surgery, these children die within a few days of birth.

How is a colon malformation diagnosed?

A colon malformation cannot be reliably detected prenatally by ultrasound. As a rule, doctors will therefore first carry out a comprehensive physical examination of the newborn child. If no clear diagnosis can be made, an X-ray of the abdomen should be performed within the first postnatal day of life.

Other special measurements are also possible, such as micturition cysturethrography or an ultrasound examination of the rectum. If there is also a suspicion of accompanying symptoms, the doctors can use procedures such as magnetic resonance imaging(MRI).

What treatment options are available?

Treatment of a colon malformation is only possible surgically, i.e. with the help of early surgery shortly after birth. This life-saving operation is usually performed on the child's first postnatal day.

First, the doctors create an artificial anus in the child (= proctoplasty). In some cases, where the child cannot be treated in one approach, the specialists divide the operation into two appointments.

The children are first given an artificial anus on one side of the body (= colostomy). The doctors then create an artificial anus within the first year of life and reconnect the bowel inside to this anus.

What is the prognosis for children with colorectal malformations?

As a rule, children will be continent in later adulthood after the corrective operation, i.e. they will be able to hold urine and stool. Nevertheless, slight incontinence with smear marks in the underwear cannot be completely avoided. For children and adolescents, however, this often means a great deal of psychological pressure.

In the case of mild incontinence, you should try to perform a bowel irrigation while sitting on the toilet. This enables those affected to alleviate the symptoms of incontinence and at the same time improve their social and psychological well-being. However, these psycho-social aspects of the disease and their importance for children's quality of life are very often underestimated.

Which doctors treat colon malformations?

Colon malformations are serious developmental disorders in newborn children that require immediate surgical treatment. Specialists in pediatric surgery, but also general surgeons, are trained for this.

References

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