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The most prominent symptom of intestinal atresia is bilious vomiting soon after birth. [1] This is most common in jejunal atresia. [2] Other features include abdominal distension and failure to pass meconium. The distension is more generalised the further down the bowel the atresia is located and is thus most prominent with ileal atresia.
The intestinal atresia is of the "apple-peel" type, an uncommon type in which the remaining portion of the intestine is found twisted around its main artery, and this usually affects the jejunum. [2] [3] Often, much of the bowel is missing in this form of atresia. [9] There can sometimes also be intestinal malrotation. [2] [3] [8] [11]
The small intestine forms loops (B2) and slides back into the abdomen (B3) during resolution of the hernia. Meanwhile, the cecum moves from the left to the right side, which represents the additional 180° counterclockwise rotation of the intestine (C, central view). [4] The exact cause of intestinal malrotation is unknown.
The majority of cases are small intestinal atresia, while colonic atresias are uncommon. [14] There have been two main etiologies proposed for intestinal atresia: the first is a lack of re-vacuolization of the solid cord stage of intestinal development, and the second is a late intrauterine mesenteric vascular accident.
Abdominal radiography can show the classic sign of the "double bubble": the presence of air in the stomach and duodenum. [5] [6] Unfortunately, this double-bubble sign is not pathognomonic for annular pancreas, as it can also be observed in other conditions, such as duodenal atresia [7] and intestinal malrotation. [8]
Bowel obstruction, also known as intestinal obstruction, is a mechanical or functional obstruction of the intestines which prevents the normal movement of the products of digestion. [2] [5] Either the small bowel or large bowel may be affected. [1] Signs and symptoms include abdominal pain, vomiting, bloating and not passing gas. [1]
Mutations in this gene are known to cause intestinal atresia, severe infantile or very early onset inflammatory bowel disease, extensive enteropathy, combined immunodeficiencies, thyroid dysfunction, alopecia, and lung disease.
Gastrointestinal perforation is defined by a full-thickness injury to all layers of the gastrointestinal wall, resulting in a hole in the hollow GI tract (esophagus, stomach, small intestine, or large intestine). A hole can occur due to direct mechanical injury or progressive damage to the bowel wall due to various disease states.