Pickup Michael J, Pollanen Michael S
Centre for Forensic Science and Medicine, University of Toronto, Toronto, Canada.
Forensic Sci Med Pathol. 2011 Jun;7(2):192-7. doi: 10.1007/s12024-010-9205-6. Epub 2010 Nov 18.
We describe two previously unreported associations in four cases. The first two cases demonstrate an association between segmental mediolytic arteriopathy and vascular Ehlers-Danlos syndrome. The second two cases illustrate an association between vascular Ehlers-Danlos syndrome and traumatic subarachnoid hemorrhage. In case 1, there was acute subarachnoid hemorrhage and mesenteric artery dissection. In case 2, there was an acute mesenteric artery dissection with intestinal infarction. In both cases 1 and 2, segmental mediolytic arteriopathy was found in the vertebral arteries. Cases 3 and 4 were sudden deaths from traumatic subarachnoid hemorrhage with intracranial vertebral artery rupture. Genetic testing in all four cases revealed point mutations in the type 3 procollagen gene (COL3A1), as observed in vascular Ehlers-Danlos syndrome. Based on the first two cases, we propose that segmental mediolytic arteriopathy may be a marker for this disease. We further suggest that vascular Ehlers-Danlos syndrome may be related to the pathogenesis of traumatic vertebral artery injury, in some cases. We recommend that cases of segmental mediolytic arteriopathy and traumatic subarachnoid hemorrhage undergo genetic testing for COL3A1 mutations.
我们在4例患者中描述了两种此前未报告过的关联。前两例显示节段性中层溶解动脉病与血管型埃勒斯-当洛综合征之间存在关联。后两例表明血管型埃勒斯-当洛综合征与创伤性蛛网膜下腔出血之间存在关联。病例1发生了急性蛛网膜下腔出血和肠系膜动脉夹层。病例2出现急性肠系膜动脉夹层并伴有肠梗死。在病例1和病例2中，椎动脉均发现节段性中层溶解动脉病。病例3和病例4为因创伤性蛛网膜下腔出血伴颅内椎动脉破裂导致的猝死。对所有4例患者进行基因检测，均发现了血管型埃勒斯-当洛综合征中所观察到的Ⅲ型前胶原基因（COL3A1）的点突变。基于前两例，我们提出节段性中层溶解动脉病可能是这种疾病的一个标志物。我们进一步表明，在某些情况下，血管型埃勒斯-当洛综合征可能与创伤性椎动脉损伤的发病机制有关。我们建议对节段性中层溶解动脉病和创伤性蛛网膜下腔出血的病例进行COL3A1突变的基因检测。
