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+A 26-year-old man of Portuguese descent with no significant past medical history presents with subacute onset of right-sided hemiparesis and aphasia, with marked expressive aphasia, word-finding difficulty, and rare paraphrasic errors.
+Examination demonstrated right central facial weakness, 2–3/5 strength in the right arm and leg, and dysmetria in the right upper and lower extremities.
+Reflexes were hyperactive on the right with a right-sided Babinski response.
+MRI of the brain showed multiple bilateral concentric ring-like structures in the centrum semiovale and the corona radiata on T2 imaging (figure,A), consistent with the pattern of Balo concentric sclerosis.
+There was associated restricted diffusion in 3 lesions and incomplete ring enhancement in 1 lesion.
+CSF analysis showed 30 leukocytes (79% lymphocytes, 4% monocytes), erythrocyte count was 850, and oligoclonal bands were absent.
+He was treated with 1 g of IV methylprednisolone daily for 5 days, with little improvement.
+He then underwent 5 plasmapheresis exchanges, with significant improvement of motor, sensory, speech deficits, and gait.
+Forty-five days after discharge, his examination showed 4+/5 strength in the right intrinsic muscles of the hand and a right-sided positional tremor.
+Gait and tandem gait were normal.
+He was placed on β-interferon-1a 44 μg subcutaneously 3 times a week, for treatment of presumed clinically isolated syndrome, with good response.
+One year later, his neurologic examination was essentially normal.
+There was no family history of demyelinating or autoimmune disorders.
+His mother has a significant history of headaches and early-onset strokes, and was found to be a carrier of the Notch3 mutation consistent with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
+His sister had a stroke in her 30s, and a history of migraine headaches, but has not undergone medical evaluation.
+Testing for CADASIL in the patient showed the Notch3 mutation associated with CADASIL (transition C>T, nucleotide position 1750, codon 558).
+Skin biopsy showed electron-dense extracellular material in close apposition to the smooth muscle of the vascular media1 (figure, B).