A rare case of reverse midgut rotation and jejunal transmesenteric internal hernia in an adult with Beckwith-Wiedemann syndrome

Abstract

Intestinal malrotation is a rare congenital condition with an incidence in adulthood between 0,0001% and 0,19%, affecting nearly 1:500 live births. It results from an abnormal rotation of the bowel within the peritoneal cavity during embryogenesis. Generally it involves both small and large bowel, leading to an increased risk of intestinal obstruction.

Depending on which phase of midgut embryological development is stopped or disrupted, a variety of anatomic anomalies may occur. Reverse rotation is the most rare form of intestinal malrotation (2-4%) and is more common in women. It origins from premature return of the caudad midgut into the abdominal cavity while the duodenal loop rotates clockwise during fetal life, between 4th and 12th gestational week. The cecum begins its migration and shifts to the right behind the superior mesenteric artery (SMA). As a result the transverse colon lies behind the duodenum and the SMA. Malrotation’s most common clinical manifestations in neonates are acute duodenal obstruction and midgut volvulus, lifethreatening conditions resulting in acute bowel obstruction and ischemia. In adult patients the risk of volvulus decreases and clinical presentation is more aspecific, leading to delayed diagnosis, that may cause dangerous consequences.

We report a rare case of an adult male patient presenting with acute abdominal symptoms caused by a reverse midgut rotation in a Beckwith-Weidemann Syndrome (BWS), a rare genetic disorder characterized by the association between adrenal cytomegaly, hemihypertrophy, macroglossia, omphalocele and pancreatic islet hyperplasia.

Intestinal malrotation is a rare congenital condition with an incidence in adulthood between 0,0001% and 0,19%, affecting nearly 1:500 live births. It results from an abnormal rotation of the bowel within the peritoneal cavity during embryogenesis. Generally it involves both small and large bowel, leading to an increased risk of intestinal obstruction.

Depending on which phase of midgut embryological development is stopped or disrupted, a variety of anatomic anomalies may occur. Reverse rotation is the most rare form of intestinal malrotation (2-4%) and is more common in women. It origins from premature return of the caudad midgut into the abdominal cavity while the duodenal loop rotates clockwise during fetal life, between 4th and 12th gestational week. The cecum begins its migration and shifts to the right behind the superior mesenteric artery (SMA). As a result the transverse colon lies behind the duodenum and the SMA. Malrotation’s most common clinical manifestations in neonates are acute duodenal obstruction and midgut volvulus, lifethreatening conditions resulting in acute bowel obstruction and ischemia. In adult patients the risk of volvulus decreases and clinical presentation is more aspecific, leading to delayed diagnosis, that may cause dangerous consequences.

We report a rare case of an adult male patient presenting with acute abdominal symptoms caused by a reverse midgut rotation in a Beckwith-Weidemann Syndrome (BWS), a rare genetic disorder characterized by the association between adrenal cytomegaly, hemihypertrophy, macroglossia, omphalocele and pancreatic islet hyperplasia.