Nahrir Shahpar, Al-Hameed Majed H, Al-Sinaidi Omar A, Al Shakweer Wafa
Department of Neurology, NNI, Riyadh, Saudi Arabia.
BMJ Case Rep. 2013 Nov 21;2013:bcr2013009417. doi: 10.1136/bcr-2013-009417.
Familial cerebral cavernous malformation is a rare entity. It has been described commonly among the Hispanic population and sparsely among the Italian, French, Swedish and Chinese populations. We discovered two families with this condition among the Saudi population for the first time. Both the index patients had a seizure as a prominent manifestation of their underlying structural lesion. One of them had recurrent attacks of bleeding in the cavernoma leading to a focal neurological deficit. The siblings and the parents of both the patients were screened using CT of the brain imaging. Two members within each family were found to have symptomatic cavernoma. A molecular genetics study revealed heterozygous KRIT1/CCM1 for a frameshift mutation in one of the patients. No detectable mutation was found in the other patient. These cases illustrate the existence of this condition beyond the commonly known geographical area of higher prevalence. Moreover, KRIT1/CCM1 might be the possible target gene that is mutated in this region.
家族性脑海绵状畸形是一种罕见疾病。它在西班牙裔人群中较为常见，而在意大利、法国、瑞典和中国人群中较为少见。我们首次在沙特人群中发现了两个患有这种疾病的家族。两位索引患者均以癫痫发作作为其潜在结构性病变的突出表现。其中一位患者的海绵状血管瘤反复出血，导致局灶性神经功能缺损。对两位患者的兄弟姐妹及父母进行了脑部CT成像筛查。发现每个家族中有两名成员患有症状性海绵状血管瘤。一项分子遗传学研究显示，其中一名患者存在KRIT1/CCM1基因杂合移码突变。在另一名患者中未检测到突变。这些病例表明，这种疾病在普遍认为的高患病率地理区域之外也存在。此外，KRIT1/CCM1可能是该区域发生突变的潜在靶基因。
