家族性可逆性脑血管收缩综合征:来自两个家族的见解。

IF 0.9 Q4 CLINICAL NEUROLOGY
Case Reports in Neurological Medicine Pub Date : 2025-03-06 eCollection Date: 2025-01-01 DOI:10.1155/crnm/3126513
Pacôme Constant Dit Beaufils, Benoît Guillon, Hugues Chabriat, Solène de Gaalon
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引用次数: 0

摘要

可逆性脑血管收缩综合征(RCVS)是一种罕见的疾病,其确切的潜在机制尚未确定。在此,我们报告了两个例外的家庭病例,表明潜在的遗传因素可能涉及这种情况。第一家庭的一位母亲和她的女儿表现为反复发作的雷击性头痛和可逆的右大脑中动脉血管收缩。在第二个家庭的一位母亲和她的女儿身上观察到提示RCVS与离散性硬膜下出血相关的临床特征。RCVS的这些家族性观察表明,存在一种促进这种情况出现的遗传因素。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Familial Reversible Cerebral Vasoconstriction Syndrome: Insights From Two Families.

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.

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