Leys D, Combelles G, Parent M, Lemaître L, Petit H
Presse Med. 1984 Apr 7;13(15):927-9.
A 50-year old male patient presented with two successive cerebral abscesses over a 9-month period. Rendu-Osler-Weber disease was diagnosed on the basis of recurrent epistaxis and telangiectasis of the mucosae and skin. In addition, many members of the patient's family had a history of epistaxis and one had a cerebral angioma of unusual location. Our patient's chest was normal on physical and radiological examination, but pulmonary angiography disclosed a small angioma. Removal of the angioma prevented further cerebral infections. The prevalence of pulmonary arterio-venous fistulae in Rendu-Osler-Weber disease and their clinical manifestations (especially in the central nervous system) are reviewed, together with the value of family studies and the therapeutic approach.
一名50岁男性患者在9个月内先后出现两个脑脓肿。根据反复鼻出血以及黏膜和皮肤的毛细血管扩张，诊断为遗传性出血性毛细血管扩张症（Rendu-Osler-Weber病）。此外，该患者家族中的许多成员有鼻出血病史，其中一人有位置异常的脑血管瘤。我们的患者胸部体格检查和放射学检查均正常，但肺血管造影显示有一个小血管瘤。切除该血管瘤后防止了进一步的脑部感染。本文回顾了遗传性出血性毛细血管扩张症中肺动静脉瘘的患病率及其临床表现（尤其是在中枢神经系统中的表现），以及家族研究的价值和治疗方法。
