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Rapid alterations in MR imaging in MELAS syndrome
  1. Christopher E J Doppler1,
  2. Christoph Kabbasch2,
  3. Gereon R Fink1,
  4. Helmar C Lehmann1,
  5. Gilbert Wunderlich1,3
  1. 1Department of Neurology, University Hospital Cologne, Cologne, Germany
  2. 2Department of Radiology and Neuroradiology, University Hospital Cologne, Cologne, Germany
  3. 3Centre for Rare Diseases, University Hospital Cologne, Cologne, Germany
  1. Correspondence to Dr Christopher E J Doppler, Department of Neurology, University Hospital Cologne, Cologne 50937, Germany; christopher.doppler{at}uk-koeln.de

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A 19-year-old right-handed man was admitted because of prolonged somnolence after an epileptic seizure. He had no relevant medical or family history and no history of substance abuse. However, his early childhood development had been delayed, with him finding difficulty keeping up with other children during physical activity. On examination, he was sleepy but with no other neurological signs. MR scan of the brain showed multiple bihemispheric cortical FLAIR (fluid-attenuated inversion recovery) hyperintensities that were not confined to one single vascular territory (figure 1A). Electroencephalogram (EEG) showed reduced amplitude of the left occipital waveforms and left temporal slowing. His serum creatine kinase was elevated at 471 U/L (normal <190), and lactate was elevated in both plasma (2.8 mmol/L; normal 0.5–2.2) and cerebrospinal …

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Footnotes

  • Contributors CEJD: drafting of the manuscript. CK, GF, HL, GW: critical revision of the manuscript.

  • Competing interests None declared.

  • Patient consent for publication Obtained.

  • Provenance and peer review Not commissioned; externally reviewed by Rhys Thomas, Newcastle-upon-Tyne, UK.

  • Data availability statement All data relevant to the study are included in the article or uploaded as online supplementary information.

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