ZHU Fei-qi, YAN Shuo, XING Xiao-na. Department of Neurology, the third affiliated hospital of Shenzhen University Medical College, Shenzhen 518001, China

[ Abstract ]  Objective: To investigate a case of cerebral autosomalrecessive arteriopathy with subcortical infarcts and leucoencephalopathy due to the mutation of high temperature requirement serine peptidase A1 gene (HTRA1) and its clinical features. Methods: The clinical features, images and gene test were analyzed. Results: the patient had a progressive cognitive impairment, cervical spondylopathy and mild baldness who don’t have dementia family history. Magnetic resonance images of his head revealed diffuse symmetrical demyelination of white matter in bilateral cerebral hemispheres, multiple subcortical infarcts and multiple microbleeds. Heterozygous mutation in exon 1 (c.404c > A; p.a135d) of HtrA serine protease 1 gene was detected by whole exon sequencing. Conclusion: The clinical symptoms, neuroimaging and gene test results of the patient were consistent with CARASIL.

HtrA丝氨酸肽酶1基因突变导致伴皮质下梗死和白质病变的常染色体隐性遗传性脑动脉病1例

朱飞奇^②  闫  硕  邢晓娜

深圳市罗湖区人民医院神经内科

2020年10月  第3卷  第4期  文章编号  2096-5516 (2020) 04-0302-04  doi: 10.3969/j.issn.2096-5516.2020.04.009

[ 摘  要 ]  目的：报道1例常染色体隐性遗传性脑动脉病及动脉硬化伴皮质下梗死及白质脑病（CARASIL），探讨其临床病理特征。方法：对1例58岁男性痴呆患者的临床症状、影像和基因检测结果进行分析。结果：该患者临床症状表现为进行认知功能下降，伴颈椎病和轻度秃顶，其父母及兄弟姐妹无痴呆家族史，头颅磁共振发现双侧大脑半球弥漫性对称性脑白质脱髓鞘、皮层下多发脑梗塞和多发微出血，全外显子测序发现Htra丝氨酸蛋白酶1基因1号外显子（c.404C>A；p.A135D）杂合突变。结果：结合患者临床症状、神经影像和基因检测结果符合CARASIL。