Neurology Department, Donostia University Hospital, San Sebastián, Gipuzkoa, Spain.
Neurology Department, Donostia University Hospital, San Sebastián, Gipuzkoa, Spain.
J Stroke Cerebrovasc Dis. 2020 Apr;29(4):104652. doi: 10.1016/j.jstrokecerebrovasdis.2020.104652. Epub 2020 Feb 6.
The COL4A1 mutation is a very rare monogenic cause of small vessel disease related to recurrent intracerebral hemorrhage. We report a family in which the index case presented with two intracerebral hemorrhages in the basal ganglia with severe periventricular leukoaraiosis and a cataract and vascular tortuosity in the ophthalmological study. His twin brother also had severe leukoaraiosis and multiple subcortical microhemorrhages as well as a congenital cataract and vascular tortuosity in the retina. The older sister had a porencephalic cyst and involvement of the periventricular white matter and intracerebral hemorrhage. In single-gene testing, all three were found to have the same COL4A1 mutation. Intracerebral subcortical hemorrhages or microhemorrhages and severe subcortical leukoaraiosis in familial cases may be related to COL4 mutations.
COL4A1 突变是一种非常罕见的小血管疾病的单基因病因，与复发性脑内出血有关。我们报告了一个家系，其先证者表现为两次基底节区脑内出血，伴有严重的脑室周围白质病变和白内障以及眼科研究中的血管迂曲。他的双胞胎兄弟也有严重的白质病变和多发性皮质下微出血，以及先天性白内障和视网膜血管迂曲。姐姐有脑穿通性囊肿和脑室周围白质及脑内出血受累。在单基因检测中，三人均发现有相同的 COL4A1 突变。家族性病例中脑皮质下出血或微出血和严重的皮质下白质病变可能与 COL4 突变有关。
