Caudal regression syndrome: A case report and literature of review

Abstract

Abstract Introduction: Lumbosacral agenesis or caudal regression syndrome (CRS) is a rare congenital malformation that is represented with symmetrical sacrococcygeal or lumbosacrococcygeal agenesis with a varied incidence between 1 per 25000 live birth to 2.5 per 100000 live birth. Additionally, manifold abnormalities may associate CRS e.g. spinal cord malformations, cardiac malformations, lipomyelomeningocele, orthopaedic deformities, renal agenesis and neurogenic bladder, tethered-cord, sacral agenesis, and anorectal atresia Case Presentation: We report a case of a male neonate delivered to a 28-year-old diabetic mother at 38 weeks’ gestation diagnosed with CRS. In this case lumbosacral agenesis, hip dislocation, and club foot deformities along with cardiac abnormalities including, small patent dactus arteriosus (PDA), atrial septal defect (ASD), hypertrophic cardiomyopathy (HCM) without left ventricular outlet obstruction were presented. Conclusions: Having the 200-fold increased relative risk of developing CRS in infants of diabetic mothers in mind, this case report provides evidence that uncontrolled diabetes might increase the chance of CRS in the infants.