J Neurosurg Pediatr. 2021 Jan 29;27(4):446-451. doi: 10.3171/2020.8.PEDS20391. Print 2021 Apr 1.
Until recently, cerebral arteriopathy due to heterozygous mutations of the ACTA2 gene was considered a variant of moyamoya disease. However, radiographic analysis of patients with these mutations reveals a distinctive angiographic appearance from that seen in moyamoya disease. Several heterozygous missense ACTA2 mutations have been implicated in the development of this distinct cerebrovascular entity; however, the penetrance and systemic manifestations of these mutations vary based on the location of the amino acid replacement within the α-smooth muscle actin protein. The severity of the phenotype may also differ among patients within a single mutation type. There is limited literature on the safety and efficacy of revascularization procedures for ACTA2 arteriopathy, which have been limited to those patients with known Arg179His mutations. The authors provide a review of the breadth of mutations within the ACTA2 literature and report a case of two siblings with de novo ACTA2 Arg258Cys mutations with differing clinical courses, highlighting the utility of indirect revascularization with 8-year follow-up data. This case highlights the importance of early recognition of the angiographic appearance of ACTA2 cerebral arteriopathy and performance of genetic testing, as the location of the mutation impacts clinical presentation and outcomes.
直到最近，由于 ACTA2 基因突变引起的脑动脉病被认为是烟雾病的一种变体。然而，对这些突变患者的影像学分析显示，其血管造影表现与烟雾病不同。几种杂合错义 ACTA2 突变与这种独特的脑血管疾病的发生有关；然而，这些突变的外显率和全身表现因氨基酸替代在α-平滑肌肌动蛋白中的位置而异。在单一突变类型的患者中，表型的严重程度也可能不同。关于 ACTA2 血管病的血运重建手术的安全性和有效性的文献有限，这些手术仅限于已知 Arg179His 突变的患者。作者对 ACTA2 文献中的突变范围进行了综述，并报告了一例具有从头 Arg258Cys 突变的两个兄弟姐妹的病例，他们的临床病程不同，强调了 8 年随访数据的间接血运重建的效用。这个病例强调了早期识别 ACTA2 脑动脉病的血管造影表现和进行基因检测的重要性，因为突变的位置会影响临床表现和结果。
