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

被引:5
作者
Wang, Meiping [1 ]
Lu, Jinmei [1 ]
Wang, Xiaoxi [2 ]
Ba, Xiaoqun [2 ]
Wu, Dengchang [1 ]
Zhang, Jianfang [1 ]
Zhou, Jiajia [1 ]
Wang, Kang [1 ]
机构
[1] Zhejiang Univ, Affiliated Hosp 1, Sch Med, Dept Neurol, Hangzhou, Peoples R China
[2] Zhejiang Univ, Affiliated Hosp 1, Sch Med, Dept Pathol, Hangzhou, Peoples R China
来源
FRONTIERS IN NEUROLOGY | 2022年 / 13卷
关键词
Labrune syndrome; treatment; Bevacizumab; epilepsy; late-onset; CEREBRAL CALCIFICATIONS; BRAIN CALCIFICATIONS; COATS-DISEASE; LEUKOENCEPHALOPATHY; CYSTS; DISORDER;
D O I
10.3389/fneur.2022.968403
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
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.
引用
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页数:5
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