AUTHOR=Wang Meiping , Lu Jinmei , Wang Xiaoxi , Ba Xiaoqun , Wu Dengchang , Zhang Jianfang , Zhou Jiajia , Wang Kang 

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

JOURNAL=Frontiers in Neurology

VOLUME=Volume 13 - 2022

YEAR=2022

URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2022.968403

DOI=10.3389/fneur.2022.968403

ISSN=1664-2295

ABSTRACT=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 20 treatment until now. An 18-year-old male with infancy-onset LS was first treated with  vascular endothelial growth factor (VEGF) inhibitor Bevacizumab for one year, resulting in significant clinical and radiological improvements. We adopted similar regimen in a late-onset  LS patient and, demonstrated moderate cognitive improvements but without changes on imaging. As such, Bevacizumab could potentially be clinically effective in adult-onset LS with great 25 safety.