Pacôme Constant Dit Beaufils, Benoît Guillon, Hugues Chabriat, Solène de Gaalon
{"title":"家族性可逆性脑血管收缩综合征:来自两个家族的见解。","authors":"Pacôme Constant Dit Beaufils, Benoît Guillon, Hugues Chabriat, Solène de Gaalon","doi":"10.1155/crnm/3126513","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2025 ","pages":"3126513"},"PeriodicalIF":0.9000,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11991833/pdf/","citationCount":"0","resultStr":"{\"title\":\"Familial Reversible Cerebral Vasoconstriction Syndrome: Insights From Two Families.\",\"authors\":\"Pacôme Constant Dit Beaufils, Benoît Guillon, Hugues Chabriat, Solène de Gaalon\",\"doi\":\"10.1155/crnm/3126513\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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.</p>\",\"PeriodicalId\":9615,\"journal\":{\"name\":\"Case Reports in Neurological Medicine\",\"volume\":\"2025 \",\"pages\":\"3126513\"},\"PeriodicalIF\":0.9000,\"publicationDate\":\"2025-03-06\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11991833/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Case Reports in Neurological Medicine\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1155/crnm/3126513\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q4\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Case Reports in Neurological Medicine","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1155/crnm/3126513","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
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.