Mutations in type four collagens, specifically COL4A1 and COL4A2, have been associated with cerebral small vessel disease (SVD), defined as lacunar infarcts, deep intracerebral hemorrhages (ICH), and leukoaraiosis. We present a case of a man with recurrent cerebral infarcts, related to a novel COL4A2 mutation, the p.A1534S variant. Magnetic resonance imaging demonstrated multiple lacunar infarcts, numerous deep and lobar microhemorrhages and advanced leukoaraiosis. Evaluation for COL4A2 mutations should be considered when suspecting a genetic cerebral small vessel disease.

中文翻译：

---

与复发性卒中相关的新型COL4A2突变。

四种胶原蛋白（特别是COL4A1和COL4A2）的突变与脑小血管疾病（SVD）有关，脑小血管疾病定义为腔隙性脑梗塞，深部脑出血（ICH）和白斑病。我们介绍了一例复发性脑梗死的病例，该病例与新型COL4A2突变p.A1534S变体有关。磁共振成像显示多发腔隙性梗塞，无数深部和大叶微出血和晚期白质疏松症。当怀疑遗传性脑小血管疾病时，应考虑评估COL4A2突变。