Department of Clinical Sciences and Community Health, University of Milan, IRCCS Ca' Granda Foundation, Milan, Italy; Genetics Laboratory, IRCCS Ca' Granda Foundation, Milan, Italy.
School of Medicine and Surgery, University of Milano-Bicocca, via Cadore 48, 20900 Monza, Italy.
Seizure. 2018 Apr;57:1-4. doi: 10.1016/j.seizure.2018.02.013. Epub 2018 Mar 2.
The Ehlers-Danlos syndromes (EDS) comprise a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs), characterised by joint hypermobility, hyperextensibility of the skin and tissue fragility that can induce symptoms from multiple organ systems. The latest EDS nosology distinguished thirteen subtypes with an overlap of phenotypic features, making the clinical diagnosis rather difficult and highlighting the importance of molecular diagnostic confirmation. Although the nervous system is not considered a primary target of the underlying molecular defect, recently, increasing attention has been focused on neurological manifestations of EDS. Among them, epilepsy represents a frequent cause of morbidity in these syndromes and can influence the long-term evolution of these patients, but the mechanisms are needed to be clarified. The aim of this review is to give a comprehensive overview and to analyze a possible association between EDS and epilepsy, focusing on the various brain anomalies and the types of epilepsy reported in patients affected by EDS.
埃勒斯-当洛斯综合征（EDS）是一组具有临床和遗传异质性的遗传性结缔组织疾病（HCTD），其特征为关节过度活动、皮肤过度伸展和组织脆弱，可引起多个器官系统的症状。最新的 EDS 分类学区分了 13 种亚型，具有表型特征的重叠，使得临床诊断相当困难，并强调了分子诊断确认的重要性。尽管神经系统不被认为是潜在分子缺陷的主要靶标，但最近，人们越来越关注 EDS 的神经表现。其中，癫痫是这些综合征中发病率较高的一个原因，会影响这些患者的长期预后，但需要阐明其发病机制。本综述的目的是全面概述并分析 EDS 与癫痫之间的可能关联，重点分析了 EDS 患者中报道的各种脑异常和癫痫类型。
