COL4A1 with Cerebral Small Vessel Disease and Multiple Anomalous cerebral vascular origins: A case report

Abstract

Cerebral small vessel disease (cSVD) is a main cause of stroke, cognitive impairment, and vascular dementia. COL4A1 mutations have been identified as a cause of hereditary cerebral small vessel disease. COL4A1 mutation is associated with nephropathy, aneurysms, and muscle cramps, which we call the HANAC syndrome. Mutations in COL4A1 have recently been identified in both a mouse model and families, characterized by cystic brain cavities and cerebral white-matter lesions. But it has not been reported with vascular malformations. We here first report a case of COL4A1 with cerebral small vessel disease and multiple anomalous cerebral vascular origins.