MFAP5유전자 변이를 가진 가족성 흉부대동맥류 및 박리 환자의 벼락두통과 다발성 두개 내 혈관협착

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...

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Published inTaehan Singyŏngkwa Hakhoe chi pp. 241 - 244
Main Authors 하지연, 강성묵, 양보연, 이승훈(서울대학교병원 신경과, 서울대학교 의과대학 신경과학교실)
Format Journal Article
LanguageKorean
Published 대한신경과학회 01.08.2024
Subjects
신경과학
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ISSN1225-7044
2288-985X
DOI10.17340/jkna.2024.0021

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Summary: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. KCI Citation Count: 0
ISSN:1225-7044
2288-985X
DOI:10.17340/jkna.2024.0021