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A 30-year-old short statured man, without vascular risk factors including hypertension, diabetes mellitus, smoking, hyperlipidemia, sickle cell disease, and cardiomyopathy, was evaluated for two stroke-like episodes. In the first episode (at 28 years of age), he developed a sudden onset of receptive aphasia with right hemianopsia, and made a remarkable recovery. His fundi and retina were normal. Two years later, he presented with a second episode, characterized by an attack of generalized tonic-clonic seizure with prolonged postictal inattention and confusion. In addition, he had a 10 year history of dyslexia, headache and bilateral sensorineural hearing loss. There was no family history of stroke, deafness, cardiomyopathy, muscle weakness, migraine or seizures. He underwent cerebral MRI (Fig. 1) and a perfusion single photon emission computed tomographic scan (Supp. Fig. 1). The posterior cerebral arteries originated from the basilar artery normally, without any beading or narrowing of the cerebral arteries on MRI angiography. His plasma lactate levels ranged from 3–5 mmol/l (normal range: 0.5–2.2 mmol/l) on different occasions, while his renal parameters were normal. The stroke work up, including a vasculitis panel, coagulation profile, homocysteine levels, lipid profile, Holter electrocardiogram and echocardiography, were all normal.
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