Caudal agenesis. Case report

Abstract

Introduction: Lumbosacral agenesis, also called sacral agenesis or caudal agenesis, is a very rare congenital malformation that is part of the caudal regression syndrome. The incidence of lumbosacral agenesis is one case per 25 000 live births and it is more common in children of diabetic mothers (16% of cases). Description: A case of total agenesis of the sacrum is presented, in which the diagnosis was made at the age of 47 despite having presented an anorectal malformation, which is closely related to sacral agenesis. No history of diabetes mellitus in the mother or malformations of the spine were recorded. Lumbosacral spine X-rays, computerized tomography, echocardiogram, and electrophysiological studies were performed, which contributed to the diagnosis. Conclusions: The presented sacral agenesis case was not associated to any condition or predisposing factor usually reported in the literature. The use of insulin during the mother's pregnancy was found in the past history. A variety of anorectal malformation was associated to sacral agenesis in this case.