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Hereditary hemorrhagic telangiectasia associated with cortical development malformation due to a start loss mutation in ENG

BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, is a rare disorder characterized by recurrent epistaxis, telangiectasias and systemic arteriovenous malformations (AVMs). HHT is associated with mutations in genes encoding for proteins involved in end...

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Autores principales: Villa, Davide, Cinnante, Claudia, Valcamonica, Gloria, Manenti, Giulia, Lanfranconi, Silvia, Colombi, Annalisa, Ghione, Isabella, Saetti, Maria Cristina, D’Amico, Mario, Bonato, Sara, Bresolin, Nereo, Comi, Giacomo Pietro, Ronchi, Dario
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7450577/
https://www.ncbi.nlm.nih.gov/pubmed/32847536
http://dx.doi.org/10.1186/s12883-020-01890-2
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author Villa, Davide
Cinnante, Claudia
Valcamonica, Gloria
Manenti, Giulia
Lanfranconi, Silvia
Colombi, Annalisa
Ghione, Isabella
Saetti, Maria Cristina
D’Amico, Mario
Bonato, Sara
Bresolin, Nereo
Comi, Giacomo Pietro
Ronchi, Dario
author_facet Villa, Davide
Cinnante, Claudia
Valcamonica, Gloria
Manenti, Giulia
Lanfranconi, Silvia
Colombi, Annalisa
Ghione, Isabella
Saetti, Maria Cristina
D’Amico, Mario
Bonato, Sara
Bresolin, Nereo
Comi, Giacomo Pietro
Ronchi, Dario
author_sort Villa, Davide
collection PubMed
description BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, is a rare disorder characterized by recurrent epistaxis, telangiectasias and systemic arteriovenous malformations (AVMs). HHT is associated with mutations in genes encoding for proteins involved in endothelial homeostasis such as ENG (endoglin) and ACVRL1 (activin receptor-like kinase-1). CASE PRESENTATION: Here we describe a 22-year-old male presenting with a transient episode of slurred speech and left arm paresis. Brain MRI displayed polymicrogyria. A right-to-left shunt in absence of an atrial septum defect was noted. Chest CT revealed multiple pulmonary AVMs, likely causing paradoxical embolism manifesting as a transient ischemic attack. The heterozygous ENG variant, c.3G > A (p.Met1lle), was detected in the patient. This variant was also found in patient’s mother and in his younger brother who displayed cortical dysplasia type 2. CONCLUSIONS: The detection of cortical development malformations in multiple subjects from the same pedigree may expand the phenotypic features of ENG-related HHT patients. We suggest considering HHT in young patients presenting with acute cerebral ischemic events of unknown origin.
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spelling pubmed-74505772020-08-28 Hereditary hemorrhagic telangiectasia associated with cortical development malformation due to a start loss mutation in ENG Villa, Davide Cinnante, Claudia Valcamonica, Gloria Manenti, Giulia Lanfranconi, Silvia Colombi, Annalisa Ghione, Isabella Saetti, Maria Cristina D’Amico, Mario Bonato, Sara Bresolin, Nereo Comi, Giacomo Pietro Ronchi, Dario BMC Neurol Case Report BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, is a rare disorder characterized by recurrent epistaxis, telangiectasias and systemic arteriovenous malformations (AVMs). HHT is associated with mutations in genes encoding for proteins involved in endothelial homeostasis such as ENG (endoglin) and ACVRL1 (activin receptor-like kinase-1). CASE PRESENTATION: Here we describe a 22-year-old male presenting with a transient episode of slurred speech and left arm paresis. Brain MRI displayed polymicrogyria. A right-to-left shunt in absence of an atrial septum defect was noted. Chest CT revealed multiple pulmonary AVMs, likely causing paradoxical embolism manifesting as a transient ischemic attack. The heterozygous ENG variant, c.3G > A (p.Met1lle), was detected in the patient. This variant was also found in patient’s mother and in his younger brother who displayed cortical dysplasia type 2. CONCLUSIONS: The detection of cortical development malformations in multiple subjects from the same pedigree may expand the phenotypic features of ENG-related HHT patients. We suggest considering HHT in young patients presenting with acute cerebral ischemic events of unknown origin. BioMed Central 2020-08-26 /pmc/articles/PMC7450577/ /pubmed/32847536 http://dx.doi.org/10.1186/s12883-020-01890-2 Text en © The Author(s) 2020 Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Case Report
Villa, Davide
Cinnante, Claudia
Valcamonica, Gloria
Manenti, Giulia
Lanfranconi, Silvia
Colombi, Annalisa
Ghione, Isabella
Saetti, Maria Cristina
D’Amico, Mario
Bonato, Sara
Bresolin, Nereo
Comi, Giacomo Pietro
Ronchi, Dario
Hereditary hemorrhagic telangiectasia associated with cortical development malformation due to a start loss mutation in ENG
title Hereditary hemorrhagic telangiectasia associated with cortical development malformation due to a start loss mutation in ENG
title_full Hereditary hemorrhagic telangiectasia associated with cortical development malformation due to a start loss mutation in ENG
title_fullStr Hereditary hemorrhagic telangiectasia associated with cortical development malformation due to a start loss mutation in ENG
title_full_unstemmed Hereditary hemorrhagic telangiectasia associated with cortical development malformation due to a start loss mutation in ENG
title_short Hereditary hemorrhagic telangiectasia associated with cortical development malformation due to a start loss mutation in ENG
title_sort hereditary hemorrhagic telangiectasia associated with cortical development malformation due to a start loss mutation in eng
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7450577/
https://www.ncbi.nlm.nih.gov/pubmed/32847536
http://dx.doi.org/10.1186/s12883-020-01890-2
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