Description:
<jats:title>Abstract</jats:title><jats:sec>
<jats:title>Background</jats:title>
<jats:p>Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, is a rare disorder characterized by recurrent epistaxis, telangiectasias and systemic arteriovenous malformations (AVMs). HHT is associated with mutations in genes encoding for proteins involved in endothelial homeostasis such as <jats:italic>ENG</jats:italic> (endoglin) and <jats:italic>ACVRL1</jats:italic> (activin receptor-like kinase-1).</jats:p>
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<jats:title>Case presentation</jats:title>
<jats:p>Here we describe a 22-year-old male presenting with a transient episode of slurred speech and left arm paresis. Brain MRI displayed polymicrogyria. A right-to-left shunt in absence of an atrial septum defect was noted. Chest CT revealed multiple pulmonary AVMs, likely causing paradoxical embolism manifesting as a transient ischemic attack.</jats:p>
<jats:p>The heterozygous <jats:italic>ENG</jats:italic> variant, c.3G > A (p.Met1lle), was detected in the patient. This variant was also found in patient’s mother and in his younger brother who displayed cortical dysplasia type 2.</jats:p>
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<jats:title>Conclusions</jats:title>
<jats:p>The detection of cortical development malformations in multiple subjects from the same pedigree may expand the phenotypic features of ENG-related HHT patients. We suggest considering HHT in young patients presenting with acute cerebral ischemic events of unknown origin.</jats:p>
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