Caudal Regression Syndrome: A Case Report

Lumbosacral agenesis or caudal regression syndrome (CRS) is a rare congenital malformation represented with symmetrical sacrococcygeal or lumbosacrococcygeal agenesis with a varied incidence between 1 per 25000 live births to 2.5 per 100000 live births. Additionally, manifold abnormalities may be associated with CRS, including  spinal cord malformations, cardiac malformations, lipomyelomeningocele, orthopedic deformities, renal agenesis, neurogenic bladder, tethered-cord, sacral agenesis, and anorectal atresia.

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 ductus arteriosus (PDA), atrial septal defect (ASD), hypertrophic cardiomyopathy (HCM) without left ventricular outlet obstruction were seen.

Having the 200-fold increased relative risk of developing CRS in infants of diabetic mothers in mind, this case report provides evidence that uncontrolled maternal diabetes might increase the risk of CRS  in infants.