Literature DB >> 34218326

Multiple cavernous malformation syndrome: a casual diagnosis during carotid revascularization procedure.

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.
© 2021. Fondazione Società Italiana di Neurologia.

Entities:  

Keywords:  Carotid artery disease; Cavernous malformations; Genetic disorders; Neuroimaging

Mesh:

Substances:

Year:  2021        PMID: 34218326     DOI: 10.1007/s10072-021-05414-9

Source DB:  PubMed          Journal:  Neurol Sci        ISSN: 1590-1874            Impact factor:   3.307


  2 in total

1.  Clinical features of cerebral cavernous malformations patients with KRIT1 mutations.

Authors:  Christian Denier; Pierre Labauge; Laurent Brunereau; Florence Cavé-Riant; Florence Marchelli; Minh Arnoult; Michaelle Cecillon; Jacqueline Maciazek; Anne Joutel; Elisabeth Tournier-Lasserve
Journal:  Ann Neurol       Date:  2004-02       Impact factor: 10.422

2.  Multiple intracranial cavernous malformations: clinical features and treatment.

Authors:  Yao Zhao; Gu-Hong Du; Yong-Fei Wang; Jing-Song Wu; Li-Qian Xie; Ying Mao; Liang-Fu Zhou
Journal:  Surg Neurol       Date:  2007-08-17
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.