Ovarioleukodystrophy

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Ovarioleukodystrophy. This is vanishing white matter disease associated with ovarian failure. Fully referenced neurology checklist.

Genetics

  • This is vanishing white matter disease associated with ovarian failure
  • This is caused by mutations in the EIF2B5 gene
  • Some cases are caused by EIF2B3 gene mutations
  • The onset is usually in childhood but it may be in adulthood

Neurological features

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Systemic features

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Autoimmune associations

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Differential diagnosis

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References

  1. van der Knaap MS, Barth PG, Gabreëls FJ, et al. A new leukoencephalopathy with vanishing white matter. Neurology 1997; 48:845-855.
  2. Imam I, Brown J, Lee P, Thomas PK, Manji H. Ovarioleukodystrophy: report of a case with the c.338G>A (p.Arg113His) mutation on exon 3 and the c.896G>A (p.Arg299His) mutation on exon 7 of the EIF2B5 gene. BMJ Case Rep 2011; pii: bcr1120103552. 
  3. La Piana R, Vanderver A, van der Knaap M, et al. Adult-onset vanishing white matter disease due to a novel EIF2B3 mutation. Arch Neurol 2012; 69:765-768.
  4. Ibitoye RT, Renowden SA, Faulkner HJ, Scolding NJ, Rice CM. Ovarioleukodystrophy due to EIF2B5 mutations. Pract Neurol 2016; 16:496-499.
  5. Parihar J, Vibha D, Rajan R, Pandit AK, Srivastava AK, Prasad K. Vanishing white matter disease presenting as dementia and infertility: a case report. Neurol Genet 2022; 8:e643.
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