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
Subject
Neurology (clinical),Neurology
Cited by
5 articles.
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