A challenging case of anemia, respiratory failure and seizures.

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.