Caudal regression syndrome: Case report

Abstract

Introduction. Caudal regression syndrome is a congenital malformation ranging from agenesis of the lumbosacral spine to the most severe cases of sirenomelia. The etiology of this syndrome is not well known. Obstetric ultrasonography is the diagnostic tool of choice. Surviving infants usually have normal mental function and require extensive urologic and orthopedic assistance. Clinical case. An obstetric ultrasound performed at 29 weeks gestation in a 38-year-old pregnant woman reports a single live fetus. Axial cuts of the spine show the absence of the sacral and coccyx portions, lower hypoplastic limbs are contracted and crossed in Buddha position. Therefore, it is considered a fetus suspected of having a caudal regression syndrome. At 38 weeks gestation, the baby
was born, with hypoplasia of the lower hemibody, narrow hips, distal leg atrophy, lower limbs in flexoabduction, bilateral equine foot, motor paresis of lower limbs, and permeable anus. A total column radiograph confirms the interruption of the distal column with the absence of a sacral column and no continuity with the hypoplastic pelvis. Discussion and Conclusions. Antenatal screening probably gives the opportunity for a better management of this condition. Ultrasound and fetal MRI can be used to reach a prenatal diagnosis. Early detection and prompt treatment are very important to decrease the risk of complications and improve the prognosis. A multidisciplinary approach is required.