Frontiers in Neurology (Jun 2022)

Association Between Late-Onset Leukoencephalopathy With Vanishing White Matter and Compound Heterozygous EIF2B5 Gene Mutations: A Case Report and Review of the Literature

  • Fanxin Kong,
  • Fanxin Kong,
  • Haotao Zheng,
  • Haotao Zheng,
  • Xuan Liu,
  • Xuan Liu,
  • Songjun Lin,
  • Songjun Lin,
  • Jianjun Wang,
  • Jianjun Wang,
  • Zhouke Guo,
  • Zhouke Guo

DOI
https://doi.org/10.3389/fneur.2022.813032
Journal volume & issue
Vol. 13

Abstract

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Leukoencephalopathy with vanishing white matter (LVWM) is an autosomal recessive disease. Ovarioleukodystrophy is defined as LVWM in females showing signs or symptoms of gradual ovarian failure. We present a 38-year-old female with ovarioleukodystrophy who showed status epilepticus, gait instability, slurred speech, abdominal tendon hyperreflexia, and ovarian failure. Abnormal EEG, characteristic magnetic resonance, and unreported EIF2B5 compound heterozygous mutations [c.1016G>A (p.R339Q) and c.1157G>A (p.G386D)] were found. Furthermore, the present report summarizes 20 female patients with adult-onset ovarioleukodystrophy and EIF2B5 gene mutations. In conclusion, a new genetic locus for LVWM was discovered. Compared with previous cases, mutations at different EIF2B5 sites might have different clinical manifestations and obvious clinical heterogeneity.

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