1. CADASIL with Large Intracranial Arterial Atherosclerotic Stenosis
32-year-old man had sudden facial paralysis and left limb weakness for 4 days. He had no traditional vascular risk factors (eg, hypertension).
MRI showed acute cerebral infarctions (Figure, A). Intraplaque hemorrhage was noted in the right middle cerebral artery (Figure, B).
On scanning electron microscopy of a specimen from sural nerve biopsy, granular osmiophilic material in the basement membranes of smooth muscle cells was present.
The patient was diagnosed with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Gene sequencing revealed de novo NOTCH3 mutation p.Gly179Cys (c.535G > T).
A, Axial diffusion-weighted MRI shows multiple acute cerebral infarctions in right.
B, Magnified sagittal T1-weighted MRI through region of the right middle cerebral artery shows atherosclerotic stenosis, eccentric plaque, and intraplaque hemorrhage (arrow).
Zhang and Zhang. CADASIL with Large Intracranial Arterial Atherosclerotic Stenosis.
Published Online: July 16,