A case of Rendu-Osler-Weber disease with cerebral hemangioma, multiple pulmonary arteriovenous fistulas and hepatic arteriovenous fistula

Jpn J Med. 1989 Sep-Oct;28(5):651-6. doi: 10.2169/internalmedicine1962.28.651.

Abstract

A 46-year-old woman was admitted to the hospital because of dyspnea and palpitation. Physical examination showed severe anemia and cardiac distress. Telangiectases were found in the conjunctivas, lips and oral mucosa. Chest roentogenogram showed an enlarged cardiac silhoutte and multiple coin lesions in both lower lung fields. We diagnosed her as Rendu-Osler-Weber disease (ROW). The angiographic studies showed hemangioma in the foramen of Monro, bilateral multiple pulmonary arteriovenous fistulas, and hepatic arteriovenous fistula with a large distortion of the proper hepatic artery. Although associated vascular dysplasias have been described in patients with ROW, there is no reports on ROW in which multiple vascular abnormalities concomitantly existed such as the present case. In 163 detailed cases of ROW in Japan, the frequency of vascular lesions was summarized, and this result showed that the vascular lesions of the lung were more frequent than that of the liver or brain, in comparison with countries in Europe and America. It is very important for diagnosis and its prognosis to perform a detailed angiographic examinations and to demonstrate the precise sites of the vascular dysplasias in patients with ROW.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging*
  • Abnormalities, Multiple / genetics
  • Arteriovenous Fistula / diagnostic imaging*
  • Arteriovenous Fistula / genetics
  • Cerebral Ventricle Neoplasms / diagnostic imaging*
  • Cerebral Ventricle Neoplasms / genetics
  • Female
  • Hemangioma / diagnostic imaging*
  • Hemangioma / genetics
  • Hepatic Artery / diagnostic imaging
  • Hepatic Veins / diagnostic imaging
  • Humans
  • Middle Aged
  • Pedigree
  • Pulmonary Artery / diagnostic imaging
  • Pulmonary Veins / diagnostic imaging
  • Radiography
  • Telangiectasia, Hereditary Hemorrhagic / diagnostic imaging*
  • Telangiectasia, Hereditary Hemorrhagic / genetics