Wimmer P J, Howes D S, Rumoro D P, Carbone M
Section of Emergency Medicine, University of Chicago, Illinois 60637, USA.
J Emerg Med. 1996 Jan-Feb;14(1):25-31. doi: 10.1016/0736-4679(95)02039-x.
The Ehlers-Danlos syndrome (EDS) is a group of hereditary connective tissue disorders that are characterized by abnormalities of the skin, joints, and a diversity of other phenotypic manifestations. An awareness of the disease is vital for optimal outcome in this rare group of patients who may present with a variety of life-threatening illnesses. Ehlers-Danlos type IV has been associated with vascular catastrophes, perforated viscous, ruptured uterus, and pneumothorax (1-4). We present a case of aneurysmal formation and spontaneous rupture of the great vessels in a 15-year-old male with EDS type IV, who remained undiagnosed until the time of autopsy.
埃勒斯-当洛综合征(EDS)是一组遗传性结缔组织疾病,其特征为皮肤、关节异常以及多种其他表型表现。对于这组可能出现各种危及生命疾病的罕见患者而言,认识该疾病对于获得最佳治疗效果至关重要。IV型埃勒斯-当洛综合征与血管灾难、内脏穿孔、子宫破裂和气胸有关(1-4)。我们报告一例15岁IV型埃勒斯-当洛综合征男性患者发生大血管动脉瘤形成并自发破裂的病例,该患者直至尸检时才被确诊。