Segmental Spinal Dysgenesis: A Case Report - Abstract
Segmental spinal dysgenesis (SSD) is a rare and complex congenital anomaly of the lumbar or thoracolumbar spine which is associated with congenital kyphosis or kyphoscoliosis and focal spinal cord malformations. In this study, we describe a 5 day old newborn with congenital paraparesis, talipes equinovarus and complex kyphoscoliosis diagnosed via fetal ultrasound. The diagnosis of SSD was confirmed by post-natal CT scan and MRI which showed a complex malformation at the thoracolumbar junction along with spinal cord hypoplasia. The baby underwent rehabilitation alongside a thoracic-lumbar orthosis to prevent progressive kyphotic deformities. Surgical spine correction and fixation was planned at the 2 year old mark, once an adequate bone maturity was achieved. The present study highlights the peculiar clinical picture of this extremely rare syndrome, providing new insights about the clinical diagnosis and management.