Hereditary multiple intestinal atresias: 2 new cases and review of the literature

Intestinal atresias are a common cause of newborn bowel obstruction (Dalla Vecchia LK, Grosfeld JL, West KW, et al, Intestinal atresia and stenosis: a 25-year experience with 277 cases. Arch Surg 1998; 133[5]:490-496). Hereditary multiple intestinal atresias, first reported by Guttman et al in 1973, is the rarest form of multiple atresias (Guttman FM, Braun P, Garance PH, et al, Multiple atresias and a new syndrome of hereditary multiple atresias involving the gastrointestinal tract from stomach to rectum. J Pediatr Surg 1973;8:633-640; Bass J, Pyloric atresia associated with multiple intestinal atresias and immune deficiency. J Pediatr Surg 2002;37:941-942.). It has been proposed to be autosomal recessive, to involve atresias in a variable combination of sites from stomach to rectum, and to be universally fatal (Bilodeau A, Prasil P, Cloutier R, et al, Hereditary multiple intestinal atresia: thirty years later. J Pediatr Surg 2004;39:726-730; Moreno LA, Gottrand F, Turck D, et al, Severe combined immunodeficiency syndrome associated with autosomal recessive familial multiple gastrointestinal atresias: study of a family. Am J Med Genet 1990;37:143-146). Patients have significant intestinal dysfunction and unrelenting sepsis stemming from a poorly defined, severe immunologic defect. Our case report presents 2 full siblings to nonconsanguineous parents with pyloric atresia, multiple small bowel and colonic atresias, and severe immune dysfunction. Care was withdrawn within 3 months of life on both siblings after multiple bouts of sepsis. Data suggest that the immune defect may not be primary, but in fact be secondary to intestinal dysfunction. Although the subjects in this article ultimately had fatal outcomes, a comprehensive immunologic/physiologic picture is presented in hopes of furthering the understanding of this grave disease.