Cervical spine abnormalities in Down Syndrome

Down Syndrome (DS) is the most common of the chromosomal disorders and mani fests abnormalities in several organ systems. While mental retardation, sku ll and drain anomalies, and the development of Alzheimer-type neuropatholog ical changes in patients greater than age 40 years are well recognized by n eurologists and neuropathologists, less appreciated an the various cervical spine abnormalities that can occur. Widening of the anterior atlanto-odont oid distance (AAOD) and atlantooccipital instability occur in up to 21% and 63% of DS patients, respectively, but neurologic complaints are uncommon a nd rarely are severe enough to contribute to the patient's demise. We prese nt a case of 49-year-old DS patient whose triplegia, subacute progressive r espiratory failure, and death could be attributed to severe degenerative jo int disease of the cervical spine with osteophyte formation and severe spin al canal stenosis. We provide the first detailed correlation study between pre-mortem magnetic resonance imaging (MRI) and extensive autoptic dissecti on in an adult DS patient with cervical spine abnormalities, as well as a r eview of the literature.