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Rare disease
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
  1. Ibrahim Imam1,
  2. Jeremy Brown2,
  3. Philip Lee3,
  4. P K Thomas3,
  5. Hadi Manji3
  1. 1Department of Neurology, Torbay Hospital, Torquay, UK
  2. 2Queen Elizabeth Hospital, King’s Lynn, UK
  3. 3National Hospital for Neurology and Neurosurgery, London, UK
  1. Correspondence to Dr Ibrahim Imam, ibrahimimam2000{at}yahoo.com

Summary

The authors present a 28-year-old lady with progressive neurological deterioration beginning in childhood. She had clinical, radiological and genetic features of ovarioleukodystrophy. This is part of the spectrum of vanishing white matter disease and the first such case reported in the UK. The authors also discuss the literature on the disease.

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Footnotes

  • Competing interests None.

  • Patient consent Obtained.

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