| Main clinical features
|
cerebral vasculopathy and early onset of stroke
poor tolerance to extreme environments, both cold and hot, acrocyanosis often on hands, feet, and face, worsening during cold weather (Raynaud’s phenomenon), and bchilblain lesions in acral locations during winter, migraine headache, seizure, hypothyroidism, and glaucoma, associated or not to intellectual disability
neuroimaging findings include chronic ischemic changes, multifocal stenoses of the large intracranial arteries, including some with moyamoya morphology and evidence of prior acute infarction and hemorrhage |