Introduction
Anomalies of the gastrointestinal tract are a significant cause of morbidity in children and adults. These anomalies include developmental obstructive defects such as that of the colon, anorectal anomalies, and intestinal duplications. Babies can be born with these defects along their digestive tract. These defects are usually due to undeveloped organs (atresia) or incorrectly positioned organs (malrotation and volvulus) that prevent the digestive system from functioning. These conditions are rare but severe and usually require surgery. Neonates with complete high obstruction of the intestine do not usually require further radiologic evaluation following radiography, whereas those with complete low obstruction should undergo a contrast material enema examination. In low intestinal obstruction, ultrasonography may help differentiate between the small bowel and colonic obstruction. In patients with incomplete intestinal obstruction, an upper gastrointestinal series must be performed.
Ultrasonography, computed tomography, and magnetic resonance imaging can provide added diagnostic information. However, surgery is the ultimate option to treat such kinds of anomalies.
What Are the Anomalies of the Intestine?
Sometimes babies are born with malformations all along the gastrointestinal tract. They range from minor to severe anomalies and can occur anywhere. Following are the abnormalities of the intestine, such:
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Developmental obstructive defects.
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Abnormalities of the colon.
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Anomalies of rotation and fixation.
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Anorectal anomalies.
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Intestinal duplication.
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Intestinal atresias.
Intestinal Atresias: These are the malformations of the intestine in which a bowel segment becomes very narrow or gets disconnected from the rest of the gastrointestinal tract. This is most frequently seen near the duodenum. This condition is infrequent and is seen in babies born with Down syndrome. The malformation is generally corrected with surgery.
Malrotation: During the tenth week of pregnancy, the gastrointestinal tract of the fetus develops, in parts, in the umbilical cord. At this point, it returns to the abdomen and takes a 90-degree rotation toward the right. Individual components of the gastrointestinal tract rearrange and settle into a position that remains unchanged throughout life. The gastrointestinal tract takes a fixed place at the end of this process and does not move.
Sometimes, the migration is not performed correctly, and the parts of the gastrointestinal tracts remain disconnected or get connected in the wrong place. This is termed malrotation, and this can leave the gastrointestinal tract unfixed. Sometimes, it does not cause many problems, and people may live healthy lives. However, some severe symptoms occur, leading to obstruction and reduced blood supply. This situation is termed volvulus. Malrotation with volvulus requires emergency surgery.
Hirschsprung’s Disease: Hirschsprung's disease is an anomaly in which ganglia (nerve cells) do not form in the inner wall of the bowel. This causes the bowel to contract but not relax, obstructing the lower intestine. Surgery is the treatment for this problem. Surgeons identify the section of the bowel that lacks ganglia, cut it out, and reattach the healthy ends of the bowel. Many babies who have undergone this surgery lead an everyday life. However, some babies develop an inflammation of the large intestine, which may complicate the surgery and prove life-threatening.
Anorectal Malformations: As the name suggests, babies born with this anomaly have malformations of the anus, rectum, or both. They may be of several types and vary in terms of severity. The malformation comes with one of the following or a combination of them such as:
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Absence of opening of the anus, a fistula, or small opening from the rectum to the vagina or urinary tract and other variations.
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Surgery is the mode of treatment. First, surgeons will close the fistula, and in case of a missing anus, they will create a new opening.
Abdominal Wall Defects: Abdominal wall defects are rare. Babies have a small portion of their intestines outside the body. In addition, gastroschisis (a birth defect in which the child's intestines (stomach, big or small intestines) escape their body during fetal development through a two to five-centimeter hole beside the belly button) occurs on the wall of the abdomen, and omphalocele appears on the umbilicus. Each of these defects enables the digestive system to develop outside the body. Sometimes, these conditions can be diagnosed before birth, so the doctor may advise cesarean. The treatment lies in the reinsertion of the intestine inside the body.
What Causes Anomalies in the Intestine?
Congenital anomalies of the intestine occur when the organs do not develop properly when the fetus is still in the womb. The underlying cause is still unknown; however, some believe it may be due to genetic reasons.
What Are the Symptoms of Intestinal Anomalies?
Symptoms greatly depend on the specific malformations. Therefore, each child presents different symptoms.
Atresia and Stenosis: Following are some general symptoms of atresia and stenosis. They are:
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Coughing.
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Difficulty eating.
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Vomiting.
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Swollen abdomen.
Malrotation and Volvulus: These conditions do not cause any symptoms. However, this condition can be life-threatening, and it comes with the following symptoms:
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Abdominal pain.
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Constipation.
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Rapid breathing.
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Bloody stool.
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Rectal bleeding.
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Vomiting.
Hirschsprung’s Disease: In severe cases, the disease may come up with the following symptoms such as:
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Constipation.
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Swollen abdomen.
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Vomiting.
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Diarrhea.
How to Diagnose Congenital Anomalies of the Intestine?
Most anomalies can be diagnosed before birth through prenatal testing (ultrasound). These tests give detailed information about the fetus and all the possible malformations. Following are some of the ways to diagnose intestinal anomalies such as:
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Biopsy: It is more often used to diagnose Hirschsprung's disease.
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Blood Tests: Blood tests are used to evaluate electrolyte levels that may further be used to investigate digestive tract issues.
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Imaging Tests: It includes computed tomography (CT) scan, magnetic resonance imaging (MRI) test, and X-ray using barium.
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Sigmoidoscopy: In this examination, a flexible tube is inserted into the large intestine through the rectum to check for any abnormality.
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Stool Sample: The samples are used to check for blood in the stool.
What Is the Treatment Option for Correcting the Anomalies?
The majority of malformations require surgical interventions. This involves accessing the defect, repairing the obstruction, and closing the incision. Surgeries generally involve:
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Laparoscopy: It is done to correct minor defects. This minimally invasive surgery uses an existing opening (usually the anus).
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Open: It is done to repair more severe defects. It is a more invasive surgery where a large incision is made in the abdomen to access the digestive organs.
Conclusion
Anomalies of the intestine usually occur in children and, less commonly, in adults. The abnormalities include undeveloped organs (atresia) or incorrectly positioned organs (malrotation and volvulus) that prevent the digestive system from functioning. With proper treatment, the results are usually good. Blockage or misplaced organs can be repaired, allowing the children to develop normally.
