Images in Neuroscience: Question| Volume 24, P123, February 2016

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Recurrent episodes of stroke in a young adult: question

Published:September 12, 2015DOI:

      1. Case description

      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.
      Figure thumbnail gr1
      Fig. 1(A) Axial cerebral fluid-attenuated inversion recovery MRI. (B) Corresponding diffusion-weighted MRI.

      2. The most likely diagnosis is:

      • A.
        Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
      • B.
        Fabry disease
      • C.
        Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS)
      • D.
        Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS)
      Answer on page 170

      Conflicts of Interest/Disclosures

      The authors declare that they have no financial or other conflicts of interest in relation to this research and its publication.

      Appendix A. Supplementary material

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