INTRODUCTIONS A specific mutation in the ACTA2 gene is known to cause multisystemic smooth muscle dysfunction syndrome, which is associated with cerebrovascular diseases and various organ disorders. Cerebral infarctions resulting from severe vasculopathy can be refractory; however, there are no previous reports describing the detailed clinical course of recurrent cerebral infarctions due to an ACTA2 mutation. Herein, we report a patient with an ACTA2 mutation who experienced multiple refractory cerebral infarctions in early childhood. PATIENT DESCRIPTION The patient was aged 1 year and 5 months at her first episode of cerebral infarction. Arteriopathy due to an ACTA2 mutation was diagnosed based on the characteristic cerebrovascular findings and abnormal physical findings, such as bilateral dilated pupils. Bilateral encephaloduroarteriosynangiosis and encephalogaleosynangiosis were performed after the first episode. Because the cerebral infarctions recurred postoperatively, administration of cilostazol followed by bosentan was started. However, despite these treatments she experienced seven cerebral infarctions by age 2 years and 6 months. INTERPRETATION Cerebral infarctions in patients with a specific ACTA2 mutation can occur even in early childhood, recur frequently, and cause severe motor and cognitive impairment. Physicians should be highly aware of this disease and be ready to provide the medical and surgical interventions necessary to minimize the disabling sequelae.

中文翻译：

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患有 ACTA2 突变的儿童的顽固性脑梗死

引言 ACTA2 基因的一个特定突变会导致多系统平滑肌功能障碍综合征，这与脑血管疾病和各种器官疾病有关。由严重血管病变引起的脑梗塞可能是难治的；然而，之前没有报道描述由于 ACTA2 突变引起的复发性脑梗死的详细临床过程。在此，我们报告了一名患有 ACTA2 突变的患者，该患者在儿童早期经历了多次难治性脑梗塞。患者描述 患者在第一次脑梗塞发作时年龄为 1 岁零 5 个月。由 ACTA2 突变引起的动脉病是根据特征性脑血管表现和异常体格表现（例如双侧瞳孔散大）诊断出来的。第一次发作后进行双侧脑硬膜动脉血管和脑血管血管炎。由于术后脑梗塞复发，开始给予西洛他唑和波生坦。然而，尽管接受了这些治疗，她在 2 岁零 6 个月时经历了七次脑梗塞。解释 具有特定 ACTA2 突变的患者的脑梗死甚至可以在儿童早期发生，经常复发，并导致严重的运动和认知障碍。医生应高度了解这种疾病，并准备提供必要的医疗和外科干预措施，以尽量减少致残后遗症。开始给予西洛他唑和波生坦。然而，尽管接受了这些治疗，她在 2 岁零 6 个月时经历了七次脑梗塞。解释 具有特定 ACTA2 突变的患者的脑梗死甚至可以在儿童早期发生，经常复发，并导致严重的运动和认知障碍。医生应高度了解这种疾病，并准备提供必要的医疗和外科干预措施，以尽量减少致残后遗症。开始给予西洛他唑和波生坦。然而，尽管接受了这些治疗，她在 2 岁零 6 个月时经历了七次脑梗塞。解释 具有特定 ACTA2 突变的患者的脑梗死甚至可以在儿童早期发生，经常复发，并导致严重的运动和认知障碍。医生应高度了解这种疾病，并准备提供必要的医疗和外科干预措施，以尽量减少致残后遗症。