Caudal Regression Syndrome: A Case Series of a Rare Congenital Anomaly

Background: Caudal regression syndrome is a rare, neural tube defect characterized by an abnormal development of the caudal aspect of the vertebral column and the spinal cord., It results in neurological deficits ranging from bladder and bowel involvement to severe sensory and motor deficits in the lower limbs. Maternal diabetes, genetic factors and some teratogens have been shown to be associated with its pathogenesis. Caudal regression syndrome is usually diagnosed initially by antenatal ultrasound with more definitive diagnosis made by antenatal or postnatal MRI. In this case series, we report four cases of caudal regression syndrome in different age groups including prenatal, infant and adult.

Case Report: We are presenting multimodal imaging findings of 4 cases of caudal regression syndrome in 4 different age groups including fetus, infant, early childhood and adult. The pathogenesis, associated risk factors, complications, treatment options and prognosis of caudal regression syndrome are discussed as well.

Conclusions: Caudal regression syndrome is a rare entity, characterized by sacrococcygeal dysgenesis with an abrupt termination of a blunt-ending spinal cord. Ultrasound and fetal MRI can be used to make a prenatal diagnosis, while MRI is the imaging modality of choice in adults. Early detection and prompt treatment is very important to decrease the risk of complications, and thus, to improve the prognosis.