IRCCS Centro Neurolesi "Bonino-Pulejo", Messina, Italy.
J Int Med Res. 2020 Dec;48(12):300060520979213. doi: 10.1177/0300060520979213.
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.
Future studies should investigate the use of a complete neurophysiological approach for the clinical and therapeutic management of MS patients in a large sample.
马凡综合征（MS）是一种遗传性结缔组织疾病，其特征是多种器官模式。MS 的诊断指南并未强调任何神经生理学技术在诊断这种疾病方面的有用性，甚至没有提到这些技术的使用。迄今为止，很少有神经生理学研究报告评估 MS 患者的中枢和周围神经系统。
我们描述了一名患有 MS 的男性患者。为了评估该患者的感觉和痛觉通路，我们使用脑电图、神经传导研究以及体感和激光诱发电位进行了神经生理学评估。据我们所知，这是第一篇发表的病例报告，评估了诱发电位评估在 MS 感觉和痛觉通路研究中的作用。
未来的研究应在大样本中调查完整的神经生理学方法在 MS 患者的临床和治疗管理中的应用。
