Familial Occurrence of Intussusception in Two Sibling Pairs

Abstract

Intussusception is an abdominal emergency that frequently occurs in 6- month-old to 2-year-old infants (1). The disease is important because it is the most common cause of intestinal obstruction during infancy (2). The cause of intussusception is unknown. Except in some patients with pathologic lesions or underlying disease, more than 90% of cases have no leading point and are considered to be " idiopathic" intussusception (3). Speculations about the cause of idiopathic intussusception have suggested that lymphoid hyperplasia in the terminal ileum may be related to disturbances of intestinal motility and invagination of the terminal ileum into the cecum or colon (4,5). This hypothesis is supported by the frequent finding of mesenteric hypertrophic lymphadenopathy during surgery and frequent isolation of adenovirus from patients without evidence of a leading point (6,7). Although a viral cause has been implicated in childhood intussusception, the role of genetic predisposition in the pathogenesis of intussusception has drawn little attention. We describe two sibling pairs, within two closely related families, in whom acute idiopathic intussusception developed early in life.