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

Author:

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

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 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.

Funder

Natural Science Foundation of Zhejiang Province

Publisher

Frontiers Media SA

Subject

Neurology (clinical),Neurology

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