A superficial siderosis-related transient focal neurological episode in a patient with Marfan syndrome

作     者：Slaven Pikija Eugen Trinka Pfaff Johannes Andreea Toma Mahdi Safdarian Slaven Pikija;Eugen Trinka;Pfaff Johannes;Andreea Toma;Mahdi Safdarian

作者机构：Department of NeurologyNeurocritical Care and NeurorehabilitationCentre of Cognitive NeuroscienceChristian Doppler University HospitalParacelsus Medical UniversitySalzburgMember of EpiCARESalzburgAustria Department of NeurologyChristian Doppler University HospitalCentre of Cognitive NeuroscienceNeuroscience InstituteParacelsus Medical UniversitySalzburgAustria Karl Landsteiner Institute for Neurorehabilitation and Space NeurologySalzburgAustria Department of NeuroradiologyChristian Doppler University HospitalCentre of Cognitive NeuroscienceNeuroradiology InstituteParacelsus Medical UniversitySalzburgAustria 

出 版 物：《Chronic Diseases and Translational Medicine》 (慢性疾病与转化医学（英文版）)

年 卷 期：2023年第9卷第3期

页      面：269-272页

核心收录：

学科分类：1002[医学-临床医学] 100202[医学-儿科学] 10[医学] 

主　　题：superficial Marfan balloon 

摘      要：To the Editor,Marfan syndrome is an autosomal dominant disorder of connective tissue caused by mutations in the gene encoding a matrix component of microfibrils;fibrillin-1(FBN1),with an incidence of about 1-3 per 10,000 individuals.2.3 Cardinal manifestations include proximal aortic aneurysm,dislocation of the ocular lens,and long-bone *** ectasia,which is defined as a ballooning or significant widening of the dural sac or neural root sleeves,is also a common finding in these patients,which is reported to present in more than 60%of cases and is considered a major criterion for the clinical diagnosis of this syndrome.