Segmental Spinal Dysgenesis

Segmental spinal dysgenesis is considered one of the rare types of congenital spinal malformations where there is agenesis or dysgenesis of the spinal cord. It more commonly affects the lumbar or thoracolumbar regions of the spine although it can affect any portion of the spine. It was believed that the defect in embryological development that leads to SSD was in primary neurulation, but data suggest now that these malformations occur in the stage of gastrulation. Patients with closed spinal dysraphism require extensive clinical assessment to suspect the presence of such conditions as they can often be entirely occult. For early detection of spinal congenital anomalies, prenatal screening provides a good opportunity for diagnosing and arranging the needed management plan by Spinal MRI or Ultrasound. Not only is MRI indicated for further characterizing the spine anomaly that is detected by US, but to also recognize any associated extracranial and cranial abnormalities that the ultrasound has not adequately evaluated and to confirm the diagnosis as a golden standard imaging modality prenatally and postnatally. Variety of clinical pictures could present. The variations are dependent on the degree of severity in addition to the level of defect and whether or not accompanied anomalies are present. The typical sign being a bony protuberance of kyphotic gibbus corresponding to the level of segmental abnormality. The degree of these neurological disorders depends on both the severity of spinal cord stenosis and how well the remaining segment of the spinal cord functions. The management plan also varies depending on many factors and an early surgical intervention is considered as one of the options that aim to establish and maintain the stability of the spine first and then relieving of cord compression which is recommended to maintain the balance of spinal growth and to avoid the development of rigid deformities and secondary structural curvatures.