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  • Title: Hereditary hemorrhagic telangectasia and spinal cord infarct: case report with a review of the neurological complications of HHT.
    Author: Espinosa PS, Pettigrew LC, Berger JR.
    Journal: Clin Neurol Neurosurg; 2008 May; 110(5):484-91. PubMed ID: 18304727.
    Abstract:
    Hereditary hemorrhagic telangectasia (HHT), also known as Osler-Weber-Rendu disease, is an autosomal dominant vascular dysplasia with high penetrance and variable expressivity. A wide variety of neurological complications have been reported in association with this condition. We report the first case of spinal cord infarction likely due to paradoxical embolization with HHT and review the literature on the neurological complications of this disorder. MEDLINE was employed to identify all published reports of HHT with neurological complications. We identified 44 references with a total of 436 cases of neurological complications of HHT. The most common complication was ischemic stroke and the main etiology for the vascular neurological complications in patients with HHT was pulmonary arteriovenous malformation. HHT should be considered in the differential diagnosis of any patient with cutaneous or mucosal telangiectasia or a history of unexplained epistaxis. HHT is associated with a diverse array of neurological disorders; most commonly ischemic and hemorrhagic stroke, transient ischemic attack, and brain abscess. While myelopathy secondary to arteriovenous malformation with HHT has been previously reported, this is the first instance of spinal cord infarction due to paradoxical embolization in this disorder.
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