Central nervous system arteriovenous malformations in multiple generations of a family with hereditary hemorrhagic telangiectasia

Abstract
Hereditary hemorrhagic telangiectasia is described in 4 generations of a kinship. The family is unique in that 3 generations manifest CNS vascular disease, which was pathologically confirmed in 2 generations. Genetic linkage was not identified for 32 genetic markers studied. The literature is reviewed for patients with CNS arteriovenous malformations and hereditary hemorrhagic telangiectasia. The pathogenesis of the disease is discussed, and therapeutic modalities are considered.