This study is focused on the neurological findings in patients with heritable disorders of connective tissue, such as Ehlers Danlos Syndrome and Marfan Syndrome, who are enrolled in protocol 2003-086 at the NIA. Autonomic dysfunction with increased sympathetic tone and post orthostatic tachycardia has been documented in 30% of the subjects with EDS, based on frequency domain analysis of the Holter monitor data and blood pressure measurements. The etiology of this is unknown, and is under investigation with additional measurements and correlations with structural abnormalities. Treatment with traditional approaches such as high salt diet and beta blockade are not successful. Other findings include increased incidence of migraines and peripheral neuropathies. Structural findings are investigated by MRI of the brain and spine. A high incidence of Chiari I malformation, tethered spinal cord, presence of non-malignant gliosis, increased incidence of cystic structures in the brain are notable findings. Measurements of the posterior fossa and spinal canal are significantly different than unaffected persons. Initial data indicates that such patients undergoing neurosurgical procedures are more likely to have post surgical complications.
| Milhorat, Thomas H; Bolognese, Paolo A; Nishikawa, Misao et al. (2009) Association of Chiari malformation type I and tethered cord syndrome: preliminary results of sectioning filum terminale. Surg Neurol 72:20-35 |
