J Korean Neurol Assoc.
2024 Aug;42(3):241-244. 10.17340/jkna.2024.0021.
Multifocal Intracranial Stenosis and Thunderclap Headache in a Patient with Heterozygous MFAP5 Mutation for Familial Thoracic Aortic Aneurysm and Dissection
- Affiliations
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- 1Department of Neurology, Seoul National University Hospital, Seoul, Korea
- 2Department of Neurology, Seoul National University College of Medicine, Seoul, Korea
- KMID: 2558352
- DOI: http://doi.org/10.17340/jkna.2024.0021
Abstract
- Recent investigations on familial thoracic aortic aneurysm and dissection (TAAD) identified several genetic variants. Meanwhile, intracranial vasculopathy in familial TAAD has been scarcely reported. We report a case of a young man with Marfanoid habitus and familial TAAD carrying MFAP5, c.472C>T variant. He presented with recurrent thunderclap headache and multifocal intracranial vasculopathy, which is predominantly suggestive of reversible cerebral vasoconstriction syndrome. While the role of MFAP5 in vasculopathy requires clarification, we propose its haploinsufficiency may contribute to both TAAD and intracranial stenosis, highlighting a potential risk of cerebrovascular disease in familial TAAD.
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