一例贫血、呼吸衰竭和癫痫发作的疑难病例。
A challenging case of anemia, respiratory failure and seizures.
机构信息
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出版信息
Acta Biomed. 2022 Sep 21;93(S1):e2022267. doi: 10.23750/abm.v93iS1.13076.
BACKGROUND
Hemorrhagic Hereditary Telangiectasia (HHT), or Rendu-Osler-Weber syndrome, is a rare genetic disorder characterized by mucocutaneous telangiectasias and visceral arteriovenous malformations.
AIM AND METHODS
We describe the case of a 64-year old woman in which radiology was useful to interpret an apparently unexplained constellation of symptoms.
RESULTS
Brain MRI showing ischemic stroke, pulmonary angiography demonstrating arteriovenous malformations, and capsule endoscopy detecting telangiectasias in the jejunum, along with a clinical history of recurrent epistaxis, allowed us to diagnose HHT.
CONCLUSIONS
HHT is rare and difficult to diagnose. Radiology can aid the clinical suspicion. www.actabiomedica.it.
背景
遗传性出血性毛细血管扩张症（HHT），又称 Rendu-Osler-Weber 综合征，是一种罕见的遗传性疾病，其特征为黏膜皮肤毛细血管扩张和内脏动静脉畸形。
目的和方法
我们描述了一位 64 岁女性的病例，影像学检查有助于解释一系列看似不明原因的症状。
结果
脑部 MRI 显示脑梗死，肺动脉造影显示动静脉畸形，胶囊内镜检查发现空肠毛细血管扩张，以及反复鼻出血的临床病史，使我们能够诊断出 HHT。
结论
HHT 较为罕见，且难以诊断。影像学检查有助于临床医生怀疑该病。www.actabiomedica.it。
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