A 44-year-old Caucasian man presented with seizures and cognitive impairment. He had marked retinal drusen, and MR brain scan showed features of cerebral small vessel disease; he was diagnosed with a leukoencephalopathy of uncertain cause. He died at the age of 46 years and postmortem brain examination showed widespread small vessel changes described as a vasculopathy of unknown cause. Seven years postmortem, whole-genome sequencing identified a homozygous nonsense HTRA1 mutation (p.Arg302Ter), giving a retrospective diagnosis of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy. Additional data on extensive investigations carried out on this patient prior to arrival at a diagnosis can be made available on request.

中文翻译：

---

伴有皮质下梗死和白质脑病的常染色体隐性脑动脉病（CARASIL）


一名 44 岁的白人男子出现癫痫发作和认知障碍。他有明显的视网膜玻璃疣，磁共振脑部扫描显示脑小血管疾病的特征；他被诊断患有原因不明的白质脑病。他于 46 岁时去世，死后脑部检查显示广泛的小血管变化，被描述为原因不明的血管病变。死后七年，全基因组测序发现了纯合无义 HTRA1 突变 (p.Arg302Ter)，回顾性诊断为伴有皮质下梗死和白质脑病的常染色体隐性脑动脉病。在做出诊断之前，可以根据要求提供有关对该患者进行的广泛调查的更多数据。