COL4A1/2-related familial vascular leukoencephalopathy
ORPHA:36383· ICD-10 I67.8
Definition
A rare genetic neurological disorder characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.
- Inheritance
- Autosomal dominant