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 a multidisciplinary evalua...

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Autores principales: Bova, Carlo, De Bartolo, Tommaso, De Stefano, Roberto, Ruvio, Martina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Mattioli 1885 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10510998/
https://www.ncbi.nlm.nih.gov/pubmed/36129446
http://dx.doi.org/10.23750/abm.v93iS1.13076
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author Bova, Carlo
De Bartolo, Tommaso
De Stefano, Roberto
Ruvio, Martina
author_facet Bova, Carlo
De Bartolo, Tommaso
De Stefano, Roberto
Ruvio, Martina
author_sort Bova, Carlo
collection PubMed
description 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 a multidisciplinary evaluation 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. A multidisciplinary approach can aid the clinical suspicion. (www.actabiomedica.it)
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spelling pubmed-105109982023-09-21 A challenging case of anemia, respiratory failure and seizures Bova, Carlo De Bartolo, Tommaso De Stefano, Roberto Ruvio, Martina Acta Biomed Case Report 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 a multidisciplinary evaluation 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. A multidisciplinary approach can aid the clinical suspicion. (www.actabiomedica.it) Mattioli 1885 2022 2022-12-07 /pmc/articles/PMC10510998/ /pubmed/36129446 http://dx.doi.org/10.23750/abm.v93iS1.13076 Text en Copyright: © 2022 ACTA BIO MEDICA SOCIETY OF MEDICINE AND NATURAL SCIENCES OF PARMA https://creativecommons.org/licenses/by-nc-sa/4.0/This work is licensed under a Creative Commons Attribution 4.0 International License
spellingShingle Case Report
Bova, Carlo
De Bartolo, Tommaso
De Stefano, Roberto
Ruvio, Martina
A challenging case of anemia, respiratory failure and seizures
title A challenging case of anemia, respiratory failure and seizures
title_full A challenging case of anemia, respiratory failure and seizures
title_fullStr A challenging case of anemia, respiratory failure and seizures
title_full_unstemmed A challenging case of anemia, respiratory failure and seizures
title_short A challenging case of anemia, respiratory failure and seizures
title_sort challenging case of anemia, respiratory failure and seizures
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10510998/
https://www.ncbi.nlm.nih.gov/pubmed/36129446
http://dx.doi.org/10.23750/abm.v93iS1.13076
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