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Case report: Moderate therapeutic response to Bevacizumab in late-onset Labrune syndrome

Labrune syndrome (LS) is caused by SNORD118 gene mutations with a particular neuroimaging of white matter disease, intracranial calcification, and cysts. There was no effective treatment until now. An 18-year-old man with infancy-onset LS was first treated with vascular endothelial growth factor (VE...

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Autores principales: Wang, Meiping, Lu, Jinmei, Wang, Xiaoxi, Ba, Xiaoqun, Wu, Dengchang, Zhang, Jianfang, Zhou, Jiajia, Wang, Kang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9552879/
https://www.ncbi.nlm.nih.gov/pubmed/36237624
http://dx.doi.org/10.3389/fneur.2022.968403
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author Wang, Meiping
Lu, Jinmei
Wang, Xiaoxi
Ba, Xiaoqun
Wu, Dengchang
Zhang, Jianfang
Zhou, Jiajia
Wang, Kang
author_facet Wang, Meiping
Lu, Jinmei
Wang, Xiaoxi
Ba, Xiaoqun
Wu, Dengchang
Zhang, Jianfang
Zhou, Jiajia
Wang, Kang
author_sort Wang, Meiping
collection PubMed
description Labrune syndrome (LS) is caused by SNORD118 gene mutations with a particular neuroimaging of white matter disease, intracranial calcification, and cysts. There was no effective treatment until now. An 18-year-old man with infancy-onset LS was first treated with vascular endothelial growth factor (VEGF) inhibitor Bevacizumab for 1 year, resulting in significant clinical and radiological improvements. We adopted a similar regimen in a patient with late-onset LS and demonstrated moderate cognitive improvements but without changes in imaging. As such, Bevacizumab could potentially be clinically effective in adult-onset LS with great safety.
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spelling pubmed-95528792022-10-12 Case report: Moderate therapeutic response to Bevacizumab in late-onset Labrune syndrome Wang, Meiping Lu, Jinmei Wang, Xiaoxi Ba, Xiaoqun Wu, Dengchang Zhang, Jianfang Zhou, Jiajia Wang, Kang Front Neurol Neurology Labrune syndrome (LS) is caused by SNORD118 gene mutations with a particular neuroimaging of white matter disease, intracranial calcification, and cysts. There was no effective treatment until now. An 18-year-old man with infancy-onset LS was first treated with vascular endothelial growth factor (VEGF) inhibitor Bevacizumab for 1 year, resulting in significant clinical and radiological improvements. We adopted a similar regimen in a patient with late-onset LS and demonstrated moderate cognitive improvements but without changes in imaging. As such, Bevacizumab could potentially be clinically effective in adult-onset LS with great safety. Frontiers Media S.A. 2022-09-27 /pmc/articles/PMC9552879/ /pubmed/36237624 http://dx.doi.org/10.3389/fneur.2022.968403 Text en Copyright © 2022 Wang, Lu, Wang, Ba, Wu, Zhang, Zhou and Wang. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Neurology
Wang, Meiping
Lu, Jinmei
Wang, Xiaoxi
Ba, Xiaoqun
Wu, Dengchang
Zhang, Jianfang
Zhou, Jiajia
Wang, Kang
Case report: Moderate therapeutic response to Bevacizumab in late-onset Labrune syndrome
title Case report: Moderate therapeutic response to Bevacizumab in late-onset Labrune syndrome
title_full Case report: Moderate therapeutic response to Bevacizumab in late-onset Labrune syndrome
title_fullStr Case report: Moderate therapeutic response to Bevacizumab in late-onset Labrune syndrome
title_full_unstemmed Case report: Moderate therapeutic response to Bevacizumab in late-onset Labrune syndrome
title_short Case report: Moderate therapeutic response to Bevacizumab in late-onset Labrune syndrome
title_sort case report: moderate therapeutic response to bevacizumab in late-onset labrune syndrome
topic Neurology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9552879/
https://www.ncbi.nlm.nih.gov/pubmed/36237624
http://dx.doi.org/10.3389/fneur.2022.968403
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