Department of Internal Medicine, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Am J Med Genet A. 2012 Mar;158A(3):626-9. doi: 10.1002/ajmg.a.34420. Epub 2012 Feb 2.
A 9-year-old boy with the classical type of Ehlers-Danlos syndrome (EDS) developed a symptomatic aneurysm of the superior mesenteric artery. His EDS diagnosis had been confirmed biochemically and genetically. Vascular complications are known to be associated with the vascular type of EDS, but this is the first report of a child with classical EDS who developed a major vascular complication. Clinicians should be aware that severe vascular complications albeit rare, can also occur in classical EDS.
一名 9 岁男孩患有典型型埃勒斯-当洛斯综合征(EDS),并发肠系膜上动脉症状性动脉瘤。他的 EDS 诊断已通过生化和遗传学得到确认。已知血管型 EDS 与血管并发症有关,但这是首例报道的患有经典型 EDS 并发生重大血管并发症的儿童。临床医生应注意到,尽管罕见,但严重的血管并发症也可能发生在经典型 EDS 中。