Clinical and Radiologic Characteristics of Caudal Regression Syndrome in a 3-Year-Old Boy: Lessons from Overlooked...

Caudal regression syndrome (CRS) is a rare neural tube defect that affects the terminal spinal segment, manifesting as neurological deficits and structural anomalies in the lower body. We report a case of a 31-month-old boy presenting with constipation who had long been considered to have functional constipation but was finally confirmed to have CRS. Small, flat buttocks with bilateral buttock dimples and a short intergluteal cleft were identified on close examination. Plain radiographs of the abdomen, retrospectively reviewed, revealed the absence of the distal sacrum and the coccyx. During the 5-year follow-up period, we could find his long-term clinical course showing bowel and bladder dysfunction without progressive neurologic deficits. We present this case to highlight the fact that a precise physical examination, along with a close evaluation of plain radiographs encompassing the sacrum, is necessary with a strong suspicion of spinal dysraphism when confronting a child with chronic constipation despite the absence of neurologic deficits or gross structural anomalies.