Progressive congenital kyphosis: report of five cases and review of the literature

Abstract

For over 60 years congenital kyphotic deformities of the spine have been categorized into two distinct groups, depending on the developmental defect. Those arising from a failure of formation of the vertebral bodies were classified as type 1, while those arising from a failure of segmentation were referred to as type 2. Recognition of the progressive and unstable nature of the type 1 defects alerted physicians to the need for early operative stabilization through decompression and stabilization through instrumentation. As the embryogenesis of the spinal column was further investigated, and as diagnostic imaging methods of the spine improved, unstable congenital kyphoses were further subdivided. Progressive congenital kyphotic deformities now may accompany a host of vertebral column developmental defects as well as genetically mediated mesenchymal tissue defect syndromes. This paper presents 5 patients from The Children's Hospital of Philadelphia with progressive and symptomatic congenital kyphotic deformities of the spine. Two of these lesions resulted from defects of formation of the vertebral bodies, while one resulted from segmental spinal dysgenesis, maldevelopment of both the anterior and posterior vertebral elements. One patient's kyphotic deformity was a result of caudal regression syndrome, and the final case presented experienced a high thoracic kyphosis from a syndrome associated diffuse midline mesenchymal tissue abnormalities known as cerebrocostomandibular syndrome. All patients showed evidence of progressive cord compression and required neural element decompression, fusion, and instrumentation. The cases are discussed individually, and the developmental and clinical aspects of each are explored.