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家族性可逆性脑血管收缩综合征:来自两个家族的见解

Familial Reversible Cerebral Vasoconstriction Syndrome: Insights From Two Families.

作者信息

Constant Dit Beaufils Pacôme, Guillon Benoît, Chabriat Hugues, de Gaalon Solène

机构信息

Departments of Neurology, Nantes University Hospital, Nantes F-44000, France.

Department of Neurology, Hôpital Lariboisière, Paris F-75010, France.

出版信息

Case Rep Neurol Med. 2025 Mar 6;2025:3126513. doi: 10.1155/crnm/3126513. eCollection 2025.

Abstract

Reversible cerebral vasoconstriction syndrome (RCVS) is a rare condition whose exact underlying mechanisms remain undetermined. Herein, we report two exceptional family cases suggesting that a potential genetic factor might be involved in this condition. A mother and her daughter presented with recurrent thunderclap headaches and reversible vasoconstriction of the right middle cerebral artery in the first family. Clinical features suggestive of RCVS associated with a discrete subdural hemorrhage was observed in a mother and her daughter in a second family. These familial observations of RCVS suggest the existence of a genetic factor promoting the emergence of this condition.

摘要

可逆性脑血管收缩综合征(RCVS)是一种罕见疾病,其确切的潜在机制尚不清楚。在此,我们报告两例特殊的家族病例,提示这种疾病可能涉及潜在的遗传因素。在第一个家族中,一位母亲和她的女儿出现反复发作的霹雳样头痛以及右侧大脑中动脉可逆性收缩。在第二个家族中,一位母亲和她的女儿观察到提示与离散性硬膜下出血相关的RCVS临床特征。这些RCVS的家族性观察结果提示存在促进该疾病发生的遗传因素。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1137/11991833/e0169c49f100/CRINM2025-3126513.001.jpg

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