Introduction:
Duodenal atresia is a rare congenital disorder that occurs without any specific cause. Some instances of duodenal atresia are also associated with genetic conditions and have an autosomal recessive pattern of inheritance. Duodenal atresia is a disorder of the small intestine that causes obstruction or complete closure of the duodenum. In this condition, bilious or non-bilious vomiting is encountered in the baby within 24 hours to 38 hours after the first oral feed. The obstruction of the duodenum may not allow the passage of the stomach contents into the intestine, resulting in improper digestion. Children born with duodenal atresia may require surgery to correct the defect within a few days after birth.
What Is the Duodenum?
The small intestine is divided into three parts:
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The first part is called the duodenum. It connects to the stomach. The food from the stomach enters the duodenum.
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The middle part is called the jejunum.
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The terminal portion, or the third part, is the ileum that connects to the colon (large intestine).
What Are the Causes of Duodenal Atresia?
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During the initial period of embryonic development, at around five to six weeks, the duodenum appears as a solid cord. It then undergoes programmed cell death in the center of the cord, forming a cavity or lumen. However, in some cases, the programmed cell death fails to occur, leading to the absence of canalization, and resulting in a condition called duodenal atresia.
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Duodenal atresia is the complete obstruction of the duodenum. In some cases, the duodenum appears to be narrowed, resulting in an incomplete obstruction called duodenal stenosis.
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Duodenal atresia may also occur due to genetic conditions. It has an autosomal recessive pattern of inheritance. The children acquire the condition from their parents. In autosomal recessive disorders, there should be two copies of mutated or defective genes to cause the defect in the child. Most of the parents appear as carriers of the disease. Although they have a defective gene, they remain completely normal without any symptoms. However, they have the potential to pass on the defect to their children. In autosomal recessive conditions, if either of the parents has a defective gene, then there is a 25 % chance that the child will be healthy, a 50 % chance of the risk of being carriers, and a 25 % chance of an unhealthy child with two copies of defective genes.
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In a few cases of duodenal atresia, the children are associated with Down’s syndrome.
How Common Is Duodenal Atresia?
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Duodenal atresia is seen in one in 5000 to 10,000 live births.
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There is no gender predilection, and it affects males and females equally.
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Duodenal atresia is often associated with other disabilities, such as Down syndrome.
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30 % to 40 % of the children with duodenal atresia are likely to have Down syndrome.
What Are the Symptoms?
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Vomiting is seen soon after the first feed. The color of the vomit may be yellow, green, or brown and is referred to as bilious vomit (regurgitation of the liver secretion).
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Bilious vomiting may result in electrolyte imbalance in the body resulting in hypokalemia, hypochloremia, etc.
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Absence of bowel movements due to dehydration.
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Abdominal distension.
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Low birth weight.
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Preterm delivery.
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The belly appears to be swollen, with a prominent abdominal mass.
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Indigestion and malabsorption.
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Polyhydramnios (excess amount of amniotic fluid noticed during prenatal assessments).
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Intestines are shorter than usual.
What Are the Possible Complications?
The complications are mostly encountered following the surgeries. They are:
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Megaduodenum: It is a congenital or acquired condition with an elongated duodenum.
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Blind Loop Syndrome: The digested food bypasses the intestines, primarily due to bacterial overgrowth.
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Cholecystitis: It is the inflammation of the gallbladder.
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Esophagitis: Inflammation of the esophagus or food pipe.
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Peptic Ulcer Disease: In peptic ulcer disease, sores are seen in the stomach lining and the upper part of the small intestine.
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Gastroesophageal Reflux Disease: The stomach acids often regurgitate or flow back to the esophagus, causing irritation and discomfort.
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Pancreatitis: Inflammation of the pancreas.
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Anastomotic Leak: They occur after the surgery, where a leak in the connection is established surgically.
Can the Occurrence of Duodenal Atresia Be Prevented?
There are no known methods for preventing duodenal atresia. However, if the condition is diagnosed early during prenatal ultrasounds, the risk of serious complications can be reduced.
When Should One Seek the Help of a Doctor?
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When facing feeding difficulties with the baby.
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Continuous vomiting.
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Absence of bowel movements.
What Are the Other Similar Conditions?
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Annular pancreatitis (it is a common problem seen since birth and results in an extra ring over the pancreas).
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Midgut volvulus (a condition referred to as twisted intestines)
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Down syndrome (genetic problems caused by extra chromosomes)
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Anal atresia (a congenital problem where the anal opening is absent).
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Hirschsprung disease (it causes the enlargement of the intestine, causing difficulting in stool passing).
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Diaphragmatic hernia (whole present over the diaphragm at the time of birth).
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Omphalocele (congenital defect results in the abnormal abdominal wall).
What Is the Prognosis?
The prognosis is generally excellent. However, although it has an excellent prognosis, the children may encounter complications in their later life in about 12 % of the cases, and mortality is seen in six percent of the cases of duodenal atresia.
How Is Duodenal Atresia Diagnosed?
Duodenal atresia is most often diagnosed during the prenatal stage itself.
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Prenatal Ultrasounds: The prenatal ultrasounds show double bubble signs in the abdomen. The first bubble represents the amniotic fluid in the stomach and the second bubble shows the obstructed portion of the duodenum. Generally, the duodenum is free of fluids, but in the case of duodenal atresia, there is fluid accumulation in the duodenum.
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Postnatal X-Ray of the Abdomen: A large gas or air-filled space is seen in the stomach and the proximal part of the duodenum. The double bubble sign is a gold standard for diagnosing duodenal atresia.
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Barium Swallow Test: Barium is a radiopaque medium that is given to the patient to assess the medical condition or abnormalities of the esophagus, stomach, and bowel. It is available in creams, tablets, suspensions, pastes, etc. For the diagnosis of duodenal atresia, only a small quantity of barium is used to prevent reflux and aspiration.
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Pediatric Computed Tomography and Magnetic Resonance Imaging: They are rarely indicated as they use ionizing radiations, and the need for sedation in newborns for performing the procedure may be more challenging. However, it helps to determine the severity of atresia in the patient.
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Amniocentesis: They are done to assess the presence of any genetic defects in the baby, such as Down syndrome and other chromosomal abnormalities associated with duodenal atresia.
What Is the Treatment Plan For Duodenal Atresia?
The treatment protocol followed in the cases of duodenal atresia is as follows:
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First, nasogastric suction tubes are given to decompress the stomach.
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Parenteral nutrition is indicated. The food is given through an intravenous route or directly to the stomach.
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Surgeries are performed within two to three days after birth. Duodenojejunostomy surgery is performed. It is a surgical procedure where a connection is established between the duodenum and the jejunum. The surgery is done either through the laparoscopic or an open method.
Conclusion:
Duodenal atresia is a common congenital intestinal problem that is treated successfully by advanced medical treatments. Parents are given counseling to stay psychologically strong while handling the children. They are reassured that the condition is due to abnormal embryonic development, and they should never feel guilty for their actions during pregnancy. In addition, genetic screening should be made mandatory to assess the presence of genetic defects in the baby, which helps to reduce the risk of complications.
