Congenital Thoracic Cord Segmental Amyelia: A Rare Manifestation of Segmental Spinal Dysgenesis

Abstract

Segmental spinal dysgenesis (SSD) is a rare congenital abnormality in which a segment of the spine and spinal cord fails to develop properly. We report a case of a 4-year-old female child who was born prematurely with a permanent neurological deficit in the lower limbs and sphincter incontinence. Radiological investigations revealed segmental agenesis of the thoracic spinal cord (D8–D11 vertebral levels) with an associated vertebral bony anomaly. The pathogenesis of this rare form of SSD syndrome is discussed and the relevant literature is briefly reviewed.

Junctional Neurulation : A Junction between Primary and Secondary Neural Tubes

“…SSD is defined as localized agenesis or dysgenesis of the spine and focal abnormalities of the spinal cord and nerve roots [ 12 , 16 ]. The T10 to L2 segments are often involved [ 2 , 3 , 6 , 10 , 11 , 17 ].…”