Lumbar agenesis with sacral sparing: a case report

Caudal agenesis or caudal regression syndrome refers to a spectrum of malformations involving the lower spine, which can result in significant progressive or permanent neurologic defects. Caudal agenesis is frequently associated with other congenital anomalies of the axillary skeleton, hindgut and genitourinary systems. Described in this paper is a patient who presented with multiple clinical and radiographic findings consistent with caudal agenesis. This case is unique in that there is total absence of the lumbar vertebral column with an intact spinal cord and bony sacrum.