Neurophysiological assessment in a patient affected by Marfan syndrome

Abstract

Background Marfan syndrome (MS) is a hereditary connective tissue disorder characterized by different multiorgan patterns. The guidelines for MS diagnosis do not highlight the usefulness—or even the use—of any neurophysiological techniques for diagnosing this disease. Moreover, few neurophysiological studies assessing the central and peripheral nervous systems in MS subjects have been reported to date. Case presentation: We describe a male patient affected by MS. To assess sensory and nociceptive pathways in this patient, a neurophysiological assessment was performed using electroencephalogram, nerve conduction studies, and somatosensory and laser-evoked potentials. To the best of our knowledge, this is the first published case report to evaluate the role of evoked potential assessments for the study of sensory and nociceptive pathways in MS. Conclusion Future studies should investigate the use of a complete neurophysiological approach for the clinical and therapeutic management of MS patients in a large sample.