期刊
JOURNAL OF STROKE & CEREBROVASCULAR DISEASES
卷 29, 期 4, 页码 -出版社
ELSEVIER
DOI: 10.1016/j.jstrokecerebrovasdis.2020.104652
关键词
COL4; intracerebral hemorrhage; microhemorrhages; leukoaraiosis
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.
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