| Literature DB >> 34218326 |
Edoardo Pasqui1,2, Gianmarco de Donato3, Claudia Panzano3, Giuseppe Alba3, Gaia Grottola3, Alessandro Cappelli3, Giancarlo Palasciano3.
Abstract
INTODUCTION: Familial cerebral cavernous malformations (FCCM) are a rare condition characterized by the multiple presences of cavernous malformations located in the central nervous system. CASE DESCRIPTION: We present a case of FCCM incidental diagnosis in a 71-year-old male patient who underwent carotid artery stenting for high-grade carotid artery disease and subsequent reintervention for severe stent restenosis, determining neurological deficit. FCCM diagnosis was made due to the presence of hundreds of cavernous malformations located both in supra- and sub-tentorial regions highlighted by magnetic resonance and confirmed by genetic test for the mutation of the gene KRIT1, inherited also by his son.Entities:
Keywords: Carotid artery disease; Cavernous malformations; Genetic disorders; Neuroimaging
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Year: 2021 PMID: 34218326 DOI: 10.1007/s10072-021-05414-9
Source DB: PubMed Journal: Neurol Sci ISSN: 1590-1874 Impact factor: 3.307