CARASIL合并冠状动脉疾病和明显的脑出血:1例报告并文献复习

S. Müller, Eya Khadhraoui, I. Allam, L. Argyriou, U. Hehr, J. Liman, G. Hasenfuss, M. Bähr, C. Riedel, J. Koch
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引用次数: 3

摘要

脑常染色体隐性动脉病变伴皮层下梗死和白质脑病(CARASIL, Maeda综合征)是一种极其罕见的常染色体隐性遗传疾病,伴有严重的动脉病变,可引起皮层下梗死和白质脑病。在不到20个病例中,基因突变得到了证实。患者会出现脱发、椎间盘突出和颈椎病。在30到40岁之间,患者通常会发展成严重的脑梗死。临床症状,遗传研究,磁共振成像(MRI)和冠状动脉造影的病人证实CARASIL提出。患者表现为典型的脑小血管疾病、脑梗死、颈椎病和异常脱发。此外,发现明显的脑微出血和严重的冠状动脉疾病(CAD),这在CARASIL中未见报道。突变筛选显示HTRA1基因中存在纯合子c.1022G > T替换。来自其他出版物的证据支持HTRA1突变与CAD之间的病理联系,这是CARASIL的一个新特征。这是关于CARASIL合并严重CAD的首次报道。因此,在CARASIL患者中,还应考虑其他血管疾病。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
CARASIL with coronary artery disease and distinct cerebral microhemorrhage: A case report and literature review
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CARASIL, Maeda syndrome) is an extremely rare autosomal-recessive genetic disorder with a serious arteriopathy causing subcortical infarcts and leukoencephalopathy. In less than 20 cases, a genetic mutation was proven. Patients suffer from alopecia, disc herniations, and spondylosis. Between the age of 30 and 40, the patients typically develop severe cerebral infarcts. Clinical symptoms, genetic study, magnetic resonance imaging (MRI), and coronary angiography of a patient with proven CARASIL are presented. The patient showed the typical phenotype with cerebral small-vessel disease, cerebral infarcts, spondylosis, and abnormal hair loss. Additionally, distinct cerebral microhemorrhage and a severe coronary artery disease (CAD) were found, which have not been reported before for CARASIL. Mutation screening revealed the presence of a homozygous c.1022G > T substitution in the HTRA1 gene. Evidence from other publications supports a pathogenetic link between the HTRA1 mutation and CAD as a new feature of CARASIL. This is the first report about CARASIL with a concomitant severe CAD. Thus, in patients with CARASIL, other vessel diseases should also be considered.
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