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Fatal cerebellar oedema in adult Leigh syndrome
  1. Leon S Edwards1,
  2. Gabor M Halmagyi1,
  3. Amali Mallawaarachchi2,
  4. Elizabeth O Thompson3,
  5. Matthew C Kiernan1,4
  1. 1Institute of Clinical Neurosciences, Royal Prince Alfred Hospital, Sydney, Australia
  2. 2Medical Genomics, Royal Prince Alfred Hospital, Sydney, Australia
  3. 3Radiology, Royal Prince Alfred Hospital, Sydney, Australia
  4. 4Brain Mind Centre, University of Sydney, Sydney, Australia
  1. Correspondence to Dr Leon Edwards, Royal Prince Alfred Hospital, Camperdown, NSW 2050, Australia; ledw8187{at}uni.sydney.edu.au

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CASE DESCRIPTION

A 19-year-old female university student presented with a 5-week history of generalised weakness, unsteady gait and breathlessness. There were no symptoms of recent infection. Her only medical history was long-standing symmetrical 40 dB sensorineural hearing loss. On neurological examination, she had hyperpnoea, mild non-fatigable global weakness, bilateral ptosis, soft speech and absent lower limb reflexes.

The MR scan of brain showed symmetric T2-hyperintensities surrounding the third ventricle, hypothalamus and brainstem on fluid-attenuated inversion recovery sequences, suggestive of Leigh syndrome (figure 1). Lumbar puncture showed an opening pressure of 8 cm water. Cerebrospinal fluid (CSF) was acellular, protein 0.38 g/L (normal <0.45) and glucose 3.5 mmol/L (normal 2.2–4.5). Serum lactate and pyruvate were both elevated: lactate 4.3 mmol/L (normal 1.2–2.8) and pyruvate 0.26 mmol/L (normal <0.1).1 Arterial blood gases …

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Footnotes

  • Contributors LE was the principal author of the manuscript. AM was involved in conception, drafting and revision of the manuscript. ET was involved in the conception, drafting and revision of the manuscript. MK was involved in conception, drafting and revision of the manuscript. GH was involved in conception, drafting and revision of the manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Consent obtained from parent(s)/guardian(s).

  • Provenance and peer review Not commissioned. Externally peer reviewed by Douglass Turnbull, Newcastle-upon-Tyne, UK.

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