From theDepartment of Radiology,University of Michigan,Ann Arbor, Michigan,USA.
Can J Neurol Sci. 2019 May;46(3):342-343. doi: 10.1017/cjn.2019.20. Epub 2019 Apr 12.
A specific mutation (Arg179) of the ACTA2 gene has previously been described to cause a syndrome of multisystemic smooth muscle dysfunction with an extremely characteristic cerebrovascular appearance.1 Accurate neuroimaging diagnosis of this entity is important as this syndrome predisposes to complications such as early-onset ischemic stroke and ascending thoracic aortic aneurysm.2,3 The following case demonstrates a previously undescribed ACTA2 mutation (Met46) with an identical cerebrovascular imaging appearance to that of Arg179 mutations, but a less severe overall phenotype.
先前已有研究表明，ACTA2 基因的特定突变（Arg179）可导致一种多系统平滑肌功能障碍综合征，其脑血管表现极具特征性。1 因此，准确的神经影像学诊断对该疾病非常重要，因为该综合征易发生并发症，如早发性缺血性卒中和升主动脉夹层。2,3 本病例报告了一种以前未描述的 ACTA2 突变（Met46），其脑血管影像学表现与 Arg179 突变相同，但整体表型较轻。
