Segmental spinal dysgenesis with open spinal dysraphism and Chiari II features, case report

Segmental spinal dysgenesis (SSD) is a complex spinal anomaly characterized by localized dysgenesis of the lumbar or thoracolumbar spine, and severe congenital kyphosis or kyphoscoliosis. We describe a newborn who presented with severe congenital paraplegia and a lumbar mass. Magnetic resonance imaging confirmed SSD type II associated with open spinal dysraphism and intracranial Chiari II features; this association has not been reported. The association modifies the disease management and outcome. The previous classification of SSD could be revisited based on our case.