Caudal Dysplasia (Caudal Regression Syndrome)

CAUDAL dysplasia, also known as sacrococcygeal agenesis or the caudal regression syndrome, is a congenital malformation characterized by varying degrees of developmental failure involving the lower lumbar, sacral, and coccygeal vertebrae, and the corresponding segments of the spinal cord. Patients so afflicted have neurological abnormalities that range in severity from mild impairment of bladder control to total motor and sensory paralysis below the level of the defect. This combination of anomalies was first clearly described by Hohl 1 in 1852, and since then more than 150 cases have been reported. 2 These reports have served to bring out clearly the distinctive anatomical changes and the clinical features of the disorder, but the neuropathological aspects have never been fully delineated. In the case to be presented here, we have had the opportunity of carrying out a more extensive neuropathological study than has been reported up