COL4A1 Mutation in a Patient With Sporadic, Recurrent Intracerebral Hemorrhage

Background and Purpose— Recently COL4A1, a gene encoding the type IV collagen α1 chain, has been found to be involved in families with autosomal-dominant porencephaly and infantile hemiparesis. In addition to neonatal stroke, some family members had experienced, during adulthood, spontaneous intracerebral hemorrhages (ICHs) and leukoencephalopathy, suggestive of underlying small-vessel disease of the brain. We now report a patient with sporadic, recurrent ICHs and a novel COL4A1 mutation. Methods— We performed a clinical and genetic study of a 25-year-old-patient with an 8-year history of recurrent ICHs. Results— This young, normotensive patient with a history of infantile hemiparesis had experienced, since the age of 17, recurrent, spontaneous, deep ICHs occurring during sports activities. He became severely disabled. Brain magnetic resonance imaging showed ventricular enlargement, diffuse white-matter abnormalities, and newly appearing, deep, silent microbleeds. Extensive investigations found no cause. ...