Hereditary multiple atresias of the gastrointestinal tract: report of a case and review of the literature

J Pediatr Surg. 1998 May;33(5):794-7. doi: 10.1016/s0022-3468(98)90225-1.

Abstract

Hereditary multiple atresia of the gastrointestinal tract is an extremely rare subgroup of intestinal atresia. The aim of this study was to report a new case, to review the literature, and to describe the unique features of this malformation. A computer-generated list of articles on this subject was obtained, and all articles relative to this malformation were reviewed. Thirty-five other well-documented cases were found in the literature. Hereditary multiple atresias have several unique features: (1) the abdominal x-ray shows signs of gastric or duodenal atresia combined with typical large rounded or oval homogeneous calcifications in the abdominal cavity, (2) intraoperatively widespread atresias (exclusively type I and II) extending mostly from stomach to rectum are found, (3) cystic dilatation of the bile ducts can be present in cases with both complete pyloric and duodenal or proximal jejunal atresia, (4) the pathogenesis is still speculative; a combined immunodeficiency should be excluded, and (5) a fatal outcome is the rule.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging
  • Abnormalities, Multiple / surgery*
  • Duodenal Obstruction / diagnosis*
  • Duodenal Obstruction / diagnostic imaging
  • Duodenal Obstruction / surgery
  • Fatal Outcome
  • Female
  • Humans
  • Infant, Newborn
  • Intestinal Atresia / diagnosis*
  • Intestinal Atresia / diagnostic imaging
  • Intestinal Atresia / surgery*
  • Intestine, Large / abnormalities*
  • Intestine, Large / surgery
  • Intestine, Small / abnormalities*
  • Intestine, Small / surgery
  • Radiography