A challenging case of anemia, respiratory failure and seizures

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

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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Published

21-09-2022

Issue

Section

Case Reports: Oncology and Hematology

How to Cite

1.
Bova C, De Bartolo T, De Stefano R, Ruvio M. A challenging case of anemia, respiratory failure and seizures. Acta Biomed [Internet]. 2022 Sep. 21 [cited 2024 Jul. 21];93(S1):e2022267. Available from: https://mattioli1885journals.com/index.php/actabiomedica/article/view/13076