Congenital Short-Bowel; A Case Study and Review of the Literature

Abstract

A congenital short bowel (CSB) is a rare entity in pediatric surgery. We present the case of a newborn boy with a total small intestinal length of 47 cm, malrotation and gastroesophageal reflux, who is 19 months old at the time of this report. Main treatment steps were Ladd's procedure, a fundoplication and long-term parenteral nutrition. We suggest that missing physiological herniation of the gut into the coelomic cavity may impair normal intestinal growth and rotation and lead to congenital short bowel. Review of all cases reported in the literature shows a considerable mortality of 88%. The limiting factor seems to be reduced motility of the short small bowel causing functional obstruction and liver failure.

Total absence of the small bowel in a premature neonate

“…Babies with this condition often present with functional intestinal obstruction [2,3].However, this uncommon finding is typically associated with a congenitally short jejunoileum [1], intestinal malrotation [1,2], malabsorption, and no other intestinal anomalies [4]. It is an almost universally fatal condition [5,6]. Case reports of congenital short gut associated with hypertrophic pyloric stenosis also exist [4,7,8].…”

Jun N-terminal kinase maintains tissue integrity during cell rearrangement in the gut

“…A similar association is likely to underlie gut elongation in other vertebrates, as intriguing similarities exist between SP600125-and RO-treated Xenopus guts and the shortened guts of Wnt/PCP mutant mice, including defective epithelial architecture, the presence of apoptotic cell masses in the lumen and an increased tube diameter (Cervantes et al, 2009;Matsuyama et al, 2009;Yamada et al, 2010). In humans, congenital defects in gut length are often associated with other gut deformities, including intestinal stenoses, atresias and/or malrotations (Chu et al, 2004;Hasosah et al, 2008;Kern et al, 1990;Martucciello et al, 2002;Palle and Reddy, 2010;Sabharwal et al, 2004;Sansaricq et al, 1984;Schalamon et al, 1999), suggesting that the mechanisms underlying gut elongation, including the potential roles of Rho kinase and JNK, may be highly relevant to the etiology of common human deformities.…”

Management of patients with a short bowel

“…The normal adult human small intestinal length varies from about 275-850 cm as measured from the duodeno-jejunal flexure at autopsy or surgery and tends to be shorter in women [3][4][5][6] . Congenital cases of a short bowel have been reported and are usually associated with malrotation of the gut [7] . Patients who start with a small intestinal length at or below the lower end of the normal range may develop the problems associated with having a short bowel after relatively little small intestine has been removed [8] .…”