Repeated episodes of weakness and visual loss

Clinical history A 60-year-old man was admitted to our stroke unit with dysarthria and left-sided hemiparesis (NIHSS, 3) that started 12 hours earlier. He reported a history of transient episodes with alternating but mostly left-sided weakness and tingling recurring monthly–accompanied by a visual disturbance described as a scotoma–that had been diagnosed as migraine aura without headache. This time, however, worried by the unusually long duration of his symptoms, he came to the emergency room. Special studies DWI showed an acute subcortical ischemic lesion in the right centrum semiovale. Additionally, pronounced T2-hyperintense lesions with accentuation were found adjacent to the temporal horns and affecting the extreme capsule (Figure 24.1). Diagnostic stroke evaluation, including Doppler-/duplex sonography, TTE, and ECG monitoring, was without pathological findings. Neuropsychological evaluation showed mild cognitive deficits (MMSE score, 28). Functional TCD (fTCD) of the posterior cerebral arteries showed no significant alterations of vasomotor reactivity. Because of the patient’s history of migraine aura without headache, the acute ischemic stroke, and the atypical white matter lesions, we suspected CADASIL, which was confirmed by genetic analysis showing a point mutation in the Notch3 gene. His 40-year-old daughter, who also had migraine with aura has similar T2-hyperintense MRI brain lesions, and was also tested positive for CADASIL.