多发性海绵状血管畸形综合征：颈动脉血运重建术中的偶然诊断。
Multiple cavernous malformation syndrome: a casual diagnosis during carotid revascularization procedure.
机构信息
Department of Vascular Surgery, University of Siena, Siena, Italy.
Department of Medicine, Surgery and Neuroscience Vascular Surgery Unit, University of Siena, Viale Bracci, 53100, Siena, Italy.
出版信息
Neurol Sci. 2021 Nov;42(11):4737-4739. doi: 10.1007/s10072-021-05414-9. Epub 2021 Jul 4.
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.
介绍
家族性脑静脉畸形（FCCM）是一种罕见的疾病，其特征是中枢神经系统中存在多个海绵状血管畸形。
病例描述
我们报告了一例 FCCM 的偶然诊断病例，患者为 71 岁男性，因重度颈动脉疾病行颈动脉支架置入术，随后因严重支架再狭窄进行再次干预，导致神经功能缺损。FCCM 的诊断是由于存在数百个海绵状血管畸形，这些畸形位于幕上和幕下区域，磁共振成像显示，并通过基因检测 KRIT1 基因突变证实，该基因突变也遗传自他的儿子。
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