Congenital anomalies of the tubular gastrointestinal tract

Abstract

Summary Congenital anomalies of the tubular gastrointestinal tract are an important cause of morbidity not only in infants, but also in children and adults. The gastrointestinal (GI) tract, composed of all three primitive germ layers, develops early during embryogenesis. Two major steps in its development are the formation of the gut tube (giving rise to the foregut, the midgut and the hindgut), and the formation of individual organs with specialized cell types. Formation of an intact and functioning GI tract is under strict control from various molecular pathways. Disruption of any of these crucial mechanisms involved in the cell-fate decision along the dorsoventral, anteroposterior, left-right and radial axes, can lead to numerous congenital anomalies, most of which occur and present in infancy. However, they may run undetected during childhood. Therapy is surgical, which in some cases must be performed urgently, and prognosis depends on early diagnosis and suitable treatment. A precise pathologic macroscopic or microscopic diagnosis is important, not only for the immediate treatment and management of affected individuals, but also for future counselling of the affected individual and their family. This is even more true in cases of multiple anomalies or syndromic patterns. We discuss some of the more frequent or clinically important congenital anomalies of the tubular GI, including atresia’s, duplications, intestinal malrotation, Meckel’s diverticulum and Hirschsprung’s Disease.

An unusual case of colonic duplication cyst in an adult with dysplasia

“…By definition, they are comprised of a complete duplication of all layers of gastrointestinal tissue, including the mucosa, submucosa and a smooth muscle layer [ 5 , 6 , 8 ]. They often share the smooth muscle layer and the blood supply with the adjacent normal bowel, except for a rare variant of isolated duplication cysts [ 9 , 10 ].…”

“…Large cysts may be present with obstructive symptoms. Gastrointestinal bleeding may also be seen if heterotopic gastric mucosa is present, causing ulceration into adjacent vessels or organs [ 2 , 5 , 6 ]. There are also reports of duplication cysts diagnosed with intussusception, volvulus and perforation [ 12 ].…”

Case report: Ileocecal preservation for multiple small intestinal duplications

“…Eighty percent of intestinal duplications are cystic and most are located near the ileocecal junction ( 1 , 3 , 9 ). Surgery is the only effective treatment option.…”

Congenital anomalies of the gastrointestinal tract: the liver, extrahepatic biliary tree and pancreas

“…Lecco’s theory postulated the adherence of the right ventral bud to the duodenal wall with subsequent encircling of the intestine as a consequence of normal foregut rotation, while in Baldwin’s theory it’s the persisting left ventral bud, which encircles the duodenum. Intramural AP is associated with duodenal atresia 58 ; in extramural AP, the duodenal atresia/obstruction appears related to a mechanical effect 59 , 60 .…”