Cerebral cavernous malformations (CCM) consist of clusters of irregular dilated capillaries and represent the second most common type of vascular malformation affecting the central nervous system. CCM might be asymptomatic or cause cerebral hemorrhage, seizures, recurrent headaches and focal neurologic deficits. Causative mutations underlining CCM have been reported in three genes: KRIT1/CCM1, MGC4607/CCM2 and PDCD10/CCM3. Therapeutic avenues are limited to surgery. Here we present clinical, neuroradiological and molecular findings in a cohort of familial and sporadic CCM patients. Thirty subjects underwent full clinical and radiological assessment. Molecular analysis was performed by direct sequencing and MLPA analysis. Twenty-eight of 30 subjects (93%) experienced one or more typical CCM disturbances with cerebral/spinal hemorrhage being the most common (43%) presenting symptom. A molecular diagnosis was achieved in 87% of cases, with three novel mutations identified. KRIT1/CCM1 patients displayed higher risk of de novo CCMs appearance and bleedings. Magnetic Resonance Imaging (MRI) showed that infratentorial region was more frequently affected in mutated subjects while brainstem was often spared in patients with negative genetic testing.

脑海绵状血管瘤 (CCM) 由不规则扩张的毛细血管簇组成，是影响中枢神经系统的第二种最常见的血管畸形类型。CCM 可能无症状或引起脑出血、癫痫发作、反复头痛和局灶性神经功能缺损。已在三个基因中报告了强调 CCM 的致病突变：KRIT1 / CCM1、MGC4607/CCM2和PDCD10 / CCM3. 治疗途径仅限于手术。在这里，我们介绍了一组家族性和散发性 CCM 患者的临床、神经放射学和分子学发现。三十名受试者接受了全面的临床和放射学评估。通过直接测序和MLPA分析进行分子分析。30 名受试者中有 28 名 (93%) 经历了一种或多种典型的 CCM 紊乱，其中脑/脊髓出血是最常见的 (43%) 症状。87% 的病例进行了分子诊断，发现了三个新的突变。KRIT1/CCM1患者表现出更高的新发 CCM 外观和出血风险。磁共振成像 (MRI) 显示幕下区域在突变受试者中更常受到影响，而在基因检测阴性的患者中脑干通常不受累。