Diabetes mellitus as a teratogen causing caudal regression síndrome

Abstract

Introduction: Caudal regression syndrome (CRS), also called caudal dysplasia sequence, sacral regression syndrome or sacral agenesis, encompasses a group of rare congenital malformations that mainly affect the spinal cord and vertebrae, but also the urinary and genital systems and the lower extremities. Hyperglycemia is the most common teratogen involved in CRS, probably due to increased production of free radicals from the influx of glucose into cells and overcoming the immature enzymatic capacity to neutralize this excess, affecting transcription capacity. Description: 2-month-old male infant, seen at the Genetics Outpatient Clinic, referred from the orthopedics service, due to congenital clubfeet and spot on the back. The patient was the son of nonconsanguineous parents, the third son of a 25-year-old mother. The mother, G3P3A0, had type 2 diabetes. In prenatal care, NPH insulin was administered throughout the pregnancy, but glycemic control was irregular. The lower limbs showed reduced size, mild to moderate spasticity and reflexes were present. Neurological development was appropriate for age. The radiological study after birth showed the absence of sacral bone. Magnetic resonance imaging of the lumbosacral spine showed agenesis of the sacrum and small conus medullaris, without myelomeningocele. Discussion: The case we report is compatible with CRS resulting from uncontrolled maternal diabetes during pregnancy.