CNS manifestations of hereditary hemorrhagic telangiectasia

Abstract

Hereditary hemorrhagic telangiectasia (HHT) is a familial angiodysplastic disorder. Dermal, mucosal, and visceral vascular lesions of this disorder are well known. However, central nervous system (CNS) manifestations, occurring in as many as one-third of patients, have not been well appreciated until recently. The etiology of neurologic symptomatology includes hypoxemia or ischemia secondary to pulmonary arteriovenous shunting, vascular lesions of the brain and spinal cord ranging from aneurysms to arteriovenous malformations, brain abscesses secondary to pulmonary arteriovenous fistulas, and portal systemic encephalopathy. Angiographic and computed tomographic findings in four patients with CNS involvement in HHT are reported.