Frontiers in Neurology (Sep 2022)

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
https://doi.org/10.3389/fneur.2022.968403
Journal volume & issue
Vol. 13

Abstract

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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.

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