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Familial Reversible Cerebral Vasoconstriction Syndrome: Insights From Two Families

Pacôme Constant Dit Beaufils1, Benoît Guillon1, Hugues Chabriat2

  • 1Departments of Neurology, Nantes University Hospital, Nantes F-44000, France.

Case Reports in Neurological Medicine
|April 14, 2025
PubMed

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.

Keywords:
RCVScase reportfamilialgeneticreversible cerebral vasoconstriction syndromevasospasm

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