Neurological manifestations of hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease): report of 2 cases and review of the literature

Ann Neurol. 1978 Aug;4(2):130-44. doi: 10.1002/ana.410040207.

Abstract

Two cases of hereditary hemorrhagic telangiectasia (HHT) with neurological involvement are presented. One patient had multiple vascular malformations including telangiectasias of the brain, medulla, and spinal cord and a berry aneurysm of the internal carotid artery; she also had a large cerebellar abscess, presumably reflecting the presence of a pulmonary arteriovenous fistula. The second patient had an idiopathic subarachnoid hemorrhage. In more than 200 reported patients with HHT involving the nervous system, 61% had lesions seondary to a pulmonary arteriovenous fistula (cerebral hypoxemia, paradoxical and septic emboli, and brain abscess). The findings emphasize the need for early surgical correction of such fistulas. In 36% of the patients with neurological involvement and HHT, vascular malformations of the brain and spinal cord were documented, and in 3%, portal-systemic encephalopathy was noted. Multiple lesions were frequent. HHT should be considered a generalized vascular dysplasia (universal or systemic angiomatosis), and not simply a benign mucocutaneous disease.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Brain Abscess / etiology
  • Cerebral Hemorrhage / etiology*
  • Cerebrovascular Disorders / etiology*
  • Cerebrovascular Disorders / pathology
  • Female
  • Humans
  • Intracranial Aneurysm / diagnostic imaging
  • Intracranial Aneurysm / etiology*
  • Radiography
  • Telangiectasia, Hereditary Hemorrhagic / complications*