Aubignat M, Salomon A, Chivot C, Delanghe F, Lecat B, Jeanjean P, Peltier J
Service de neurologie, CHU Amiens-Picardie, 1 Rue du Professeur Christian Cabrol, 80054 Amiens, France.
Unité de réanimation neurochirurgicale, CHU Amiens-Picardie, 1 Rue du Professeur Christian Cabrol, 80054 Amiens, France.
Rev Med Interne. 2020 Nov;41(11):776-779. doi: 10.1016/j.revmed.2020.06.009. Epub 2020 Jul 25.
Osler-Rendu-Weber syndrome or hereditary hemorrhagic telangiectasia affects between 1/5000 and 1/8000 people. It is characterized by presence of recurrent epistaxis, mucocutaneous telangiectasia and visceral arteriovenous malformations. It is a genetic disease with autosomal dominant transmission inducing an endothelial cells hyper-proliferation.
A 68-year-old women with Osler-Rendu-Weber syndrome was referred for management of general impairment with confusional syndrome and hyperthermia. Various examinations have allowed us to conclude at diagnosis of brain abscess with ventriculitis probably favored by right-left shunt secondary to pulmonary arteriovenous malformations. Evolution was favorable after antibiotic treatment and endovascular embolization.
In case of brain abscess without obvious promoting factor, don't forget to looking for a right-left shunt providing septic or aseptic emboli. Furthermore, diagnosis of Rendu-Osler-Weber syndrome should be considered presence of telangiectasias and/or epistaxis.
奥斯勒-伦杜-韦伯综合征或遗传性出血性毛细血管扩张症影响着1/5000至1/8000的人群。其特征为反复鼻出血、黏膜皮肤毛细血管扩张和内脏动静脉畸形。它是一种常染色体显性遗传的基因疾病,会导致内皮细胞过度增殖。
一名患有奥斯勒-伦杜-韦伯综合征的68岁女性因伴有意识模糊综合征和高热的全身功能障碍前来就诊。多项检查使我们得出诊断为脑脓肿合并脑室炎,这可能是由继发于肺动静脉畸形的左右分流所诱发。经抗生素治疗和血管内栓塞后病情好转。
在没有明显促发因素的脑脓肿病例中,不要忘记寻找能够提供感染性或无菌性栓子的左右分流。此外,当存在毛细血管扩张和/或鼻出血时,应考虑诊断为伦杜-奥斯勒-韦伯综合征。