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

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

doi:10.3389/fneur.2022.968403

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

Front Neurol. 2022 Sep 27:13:968403. doi: 10.3389/fneur.2022.968403. eCollection 2022.

Authors

Meiping Wang¹, Jinmei Lu¹, Xiaoxi Wang², Xiaoqun Ba², Dengchang Wu¹, Jianfang Zhang¹, Jiajia Zhou¹, Kang Wang¹

Affiliations

¹ Department of Neurology, First Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
² Department of Pathology, First Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, China.

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.

Keywords: Bevacizumab; Labrune syndrome; epilepsy; late-onset; treatment.

Publication types

Case Reports