Jejunal atresia

Other Names: Apple peel syndrome; Apple peel small bowel syndrome; APSB; Apple-peel intestinal atresia; Familial apple peel jejunal atresia; Atresia of small intestine; Intestinal atresia type IIIb; Jejunoileal atresia; Small intestinal atresia

Jejunal atresia is a birth defect in a newborn characterized by partial or complete absence of the membrane connecting the small intestines to the abdominal wall (the mesentery). It causes a portion of the small intestines (the jejunum) to twist around an artery that supplies blood to the colon (the marginal artery). This leads to an intestinal blockage or "atresia."

Epidemiology

According to the National Organization for Rare Disorders, jejunal atresia is a rare condition. In the United States, a disease or condition is considered rare if affects fewer than 200,000 persons. While we are unable to find the incidence of jejunal atresia alone, it has been reported that the incidence of jejunal and ileal atresia ranges from one in 1500 to one in 12,000 births. As of 2007, there were approximately 57 cases of jejunal atresia reported in the medical literature. However, it is likely that not all cases have been reported in the literature. The condition affects males and females in equal numbers.

Cause

Jejunal atresia occurs when the membrane that attaches the small intestines to the abdominal wall (called the mesentery) is partially or completely absent. As a result, a portion of the small intestines (the jejunum) twists around an artery that supplies blood to the colon (the marginal artery). This leads to an intestinal blockage or "atresia."

Scientists suspect that it may be a consequence of disruption of blood flow in the developing fetus, leading to the death of cells and tissue in the affected area (necrosis). There may be various reasons that blood flow becomes disrupted.

Because jejunal atresia rarely occurs in more than one family member, there may be a genetic component or predisposition in some cases.

Inheritance

Most cases of jejunal atresia occur sporadically in people with no family history of the condition. However, it can rarely affect more than one family member. In these families, jejunal atresia is likely due to a genetic cause and appears to be inherited in an autosomal recessive or multifactorial manner.

Signs and symptoms

Common symptoms in the newborn include feeding difficulties, failure to thrive, vomiting bile (a yellowish-green fluid), abdominal swelling, and/or absence of bowel movements after birth. Signs and symptoms of jejunal atresia vary but may include:

• Feeding difficulties
• Failure to thrive
• Vomiting bile (a bitter-tasting, yellowish-green fluid)
• Abdominal swelling, especially the upper middle part just below the breast bone
• Absence of bowel movements after birth

Diagnosis

In some cases, jejunal atresia may be diagnosed before birth on a prenatal ultrasound or fetal MRI.This is helpful because infants can be treated promptly after birth, reducing the risk of complications. Ultrasound findings that may suggest intestinal atresia include dilated loops of bowel, hyperechoic bowel (it appears brighter than it should), and accumulation of fluid (ascites). Because prenatal ultrasound is not always accurate, X-rays and imaging studies with contrast should be obtained after birth to confirm the diagnosis.

After birth, a diagnosis is often suspected based on the presence of characteristic signs and symptoms, which suggest intestinal obstruction. These may include abdominal distension, vomiting bile, and failure to pass stool. Imaging studies can then be ordered to confirm the diagnosis.

Treatment

Jejunal atresia is typically treated with surgery as soon as possible. Total parenteral nutrition (TPN) is generally necessary for a period of time following surgery until normal meals are tolerated.

Prognosis

The long-term outlook (prognosis) for people with intestinal atresia is usually good, and in general, children do well post-operatively.Overall survival rates (including preterm babies) have reached 90%, with a surgical mortality of less than 1%. Most of the mortality occurs in infants with medical conditions such as prematurity or respiratory distress syndrome, associated anomalies, and complications related to short bowel syndrome.

NIH genetic and rare disease info

• NIH info on Jejunal atresia

Jejunal atresia is a rare disease.

Jejunal atresia Resources
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Jejunal atresia Resources
Latest articles Most recent articles Ongoing trials	Wikipedia