An Overview of Jejunal Atresia

A rare genetic disorder affecting the small intestine

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Jejunal atresia is one of several types of intestinal atresia. The rare birth defect causes a portion of the membrane (mesentery) that connects the intestines to the abdominal wall to be malformed or missing. The abnormality leads to intestinal blockages (atresia).

Symptoms

Atresia can often be diagnosed before a baby is born. Routine prenatal screenings may detect the condition because the signs of an intestinal blockage are usually visible on an ultrasound. Babies with atresia are sometimes born before their due date (preterm) and the symptoms of the condition usually appear within the first day or two after birth.

The symptoms of jejunal atresia in newborns can include:

  • Problems with feeding
  • Throwing up a yellow-green fluid (bile)
  • Failure to thrive
  • Swollen belly
  • No bowel movements

Causes

Jejunal atresia is a rare condition; it occurs in just one to three in every 10,000 live births. In 2007 there were approximately 57 cases reported in medical literature, though there are likely cases of the condition that have gone undiagnosed. The condition occurs equally in male and female infants.

Atresia can occur during fetal development at random, with no known cause, or due to a genetic predisposition. Rarely, multiple cases have occurred in the same family, therefore researchers believe it's possible the condition can be passed down through autosomal recessive inheritance.

Whether it happens at random or due to a genetic predisposition, researchers believe atresia occurs when blood flow to the intestines gets interrupted during fetal development. In areas that are not getting adequate blood supply, the cells that make up the tissue of the intestines will die (necrosis), which leads to atresia.

It's not clear exactly what causes the interruption of blood flow to the intestines during fetal development but it could likely be due to several factors. Some research has linked cigarette smoking and cocaine use during pregnancy to the development of intestinal atresia.

Diagnosis

Most cases of jejunal atresia are discovered during prenatal imaging that looks at how the fetus is developing. If the fetus has intestinal atresia, the bowel may appear looped, there may be signs of fluid in the abdomen (ascites), or other abnormalities may be visible.

Regular prenatal ultrasounds do not always detect the condition definitively, so if it is suspected additional tests may need to be performed to confirm the diagnosis. Testing the amniotic fluid (amniocentesis) can also help screen for and diagnose the condition, particularly if there is a family history of intestinal atresia.

If the diagnosis is made after a baby is born, it is usually made based on the characteristic signs and symptoms of the condition present shortly after birth as well as the findings of imaging studies, such as abdominal X-rays.

There are five types of jejunal atresia (Types I–IV) which grade the condition according to the extent of the missing or malformed membrane. For example, in Type I the intestine is intact but in Type IIIB, the intestine shows the characteristic "apple peel" spiral appearance.

Imaging studies, such as X-rays and ultrasounds, usually reveal several key findings that help doctors make a diagnosis of atresia. Infants with the birth defect typically are found to have less than normal lengths of small bowel. On radiologic images, the bowel may appear looped in such a way that is sometimes compared to the spiraled appearance of an apple peel. Due to this characteristic appearance, the condition is sometimes called "apple peel syndrome."

Atresia can occur in several segments of both the large and small bowel including the duodenum, the ileum, and the jejunum. In some cases, multiple areas of the intestines may have atresia. Duodenal atresia is more common than jejunal atresia.

Infants born with intestinal atresia may have other conditions or congenital abnormalities, though these tend to be more common with duodenal atresia than jejunal atresia. Approximately 10 percent of babies born with jejunal atresia also have cystic fibrosis, especially those that develop a condition known as meconium peritonitis. Therefore, newborns showing symptoms of either condition are usually tested for cystic fibrosis.

Newborns with atresia may also have other bowel conditions such as volvulus, intussusception, malrotation, and gastroschisis.

Treatment

Jejunal atresia needs to be treated with surgery. If the diagnosis is made before birth or very soon after, prompt surgical intervention can help prevent life-threatening complications of the condition.

Newborns with atresia usually need to have a feeding tube (total parenteral nutrition) while they wait for surgery and for a while after to allow their body to heal. Gradually, infants are transitioned to mouth feeding to help strengthen their suckling reflex.

If a baby with intestinal atresia is found to have other conditions, such as cystic fibrosis, or develops complications such as short bowel syndrome, they may need additional, ongoing, specialized, supportive care. Families of infants diagnosed with intestinal atresia may benefit from receiving genetic counseling.

Overall, if there are no complications and surgery is performed soon after birth, the survival rate for infants born with jejunal atresia is greater than 90 percent.

Children who were born with small bowel atresia and were surgically treated may need medical follow-up to ensure they are properly nourished as they grow up, as malabsorption syndromes can develop. Additional surgery may be needed if obstructions occur, if portions of the intestine stop working, or if infections develop.

Most infants who are promptly diagnosed with atresia and receive treatment do well and do not experience any serious long-term health problems related to the condition.

A Word From Verywell

Jejunal atresia is one of several types of intestinal atresia but it is very uncommon, occurring in only one to five in every 10,000 live births. Newborns who are found to have another condition that can cooccur with atresia, such as cystic fibrosis or malabsorption syndromes, may need additional, specialized care. While complications are possible if the diagnosis is made and surgery is promptly performed, infants born with atresia usually do well and don't experience any serious longterm health problems.

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