Spinal cord abnormalities in caudal regression syndrome

Summary

Caudal regression syndrome includes malformations ranging from mild forms of sacral agenesis to severe limb anomalies referred to as sirenomelia. The latter, in addition to sacral anomalies, shows malformed single lower limb and agenesis of rectum and genitourinary tracts. We report the neuropathologic examination in four infants, three with sirenomelia and one with lumbosacral agenesis. Brain and spinal cord were normal except for the structures in the caudal region of the spinal cord that were abnormal in all four cases. The first sirenomelic case with a mild sacral hypoplasia had only minor fusion of a few sacral roots and a slightly low-positioned conus medullaris. The second sirenomelic case with an intermediate degree of sacral hypoplasia had fusion of some of the sacral roots and ganglia, spinal ganglion cell heterotopias, filar lipoma and absence of the last sacral roots and ganglia. The third sirenomelic case with a severe degree of sacral hypoplasia showed additional tethering of the spinal cord. Case four with the agenesis of the lumbosacral spine had a total lack of the lumbosacral spinal cord, and dysplasia of the T11 and T12 cord segments. These findings suggest that the extent of anomalies of the caudal spinal cord structures in the caudal regression syndrome are roughly proportional to the anomalies of the vertebral column, and that they may constitute some of the main components of this syndrome.