A challenging case of anemia, respiratory failure and seizures

Carlo Bova; Tommaso De Bartolo; Roberto De Stefano; Martina Ruvio

doi:10.23750/abm.v93iS1.13076

A challenging case of anemia, respiratory failure and seizures

Authors

Carlo Bova a:1:{s:5:"en_US";s:27:"Azienda Ospedaliera Cosenza";}
Tommaso De Bartolo
Roberto De Stefano
Martina Ruvio

DOI: https://doi.org/10.23750/abm.v93iS1.13076

Keywords:

Rendu Osler Weber syndrome; Telangiectasia; Pulmonary arteriovenous malformation.

Abstract

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

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