Subluxation of a lumbar vertebra in a patient with Marfan syndrome

Marfan syndrome is a hereditary disorder of the connective tissue that, in its most classic form, includes cardiovascular, ocular, and skeletal features. The neurological problems associated with the disease are mainly caused by intracranial vascular abnormalities and spinal meningeal defects, but other neurological manifestations are rarely present. Scoliosis, a skeletal manifestation of the syndrome, occurs frequently, but its onset, natural history, and radiological characteristics differ from those of the idiopathic form. Scoliosis in a patient with Marfan syndrome seldom accompanies other spinal deformities. In this article the authors describe the case of a patient with Marfan syndrome and scoliosis in whom lumbar subluxation occurred. This rare deformity, diagnosed on three-dimensional computerized tomography scanning, has not been reported previously in association with Marfan syndrome. Its development can be explained in terms of the theory of progressive rotatory dislocation. The morphological characteristics, clinical features, and surgical treatment of the deformity are presented.