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Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes: an important cause of stroke in young people
  1. John Aaron Goodfellow1,
  2. Krishna Dani1,
  3. Willie Stewart2,
  4. Celestine Santosh3,
  5. John McLean4,
  6. Sharon Mulhern5,
  7. Saif Razvi1
  1. 1Department of Neurology, Institute of Neurological Sciences, Southern General Hospital, Glasgow, UK
  2. 2Department of Neuropathology, Institute of Neurological Sciences, Southern General Hospital, Glasgow, UK
  3. 3Department of Neuroradiology, Institute of Neurological Sciences, Southern General Hospital, Glasgow, UK
  4. 4Department of Clinical Physics and Biotechnology, Institute of Neurological Sciences, Southern General Hospital, Glasgow, UK
  5. 5Department of Neuropsychology, Ayrshire Central Hospital, Irvine, UK
  1. Correspondence to Dr John Aaron Goodfellow, Institute of Neurological Sciences, Department of Neurology, Southern General Hospital, 1345 Govan Road, Glasgow, G51 4TF; jagoodfellow{at}doctors.org.uk

Abstract

Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes is a progressive, multisystem mitochondrial disease affecting children and young adults. Patients acquire disability through stroke-like episodes and have an increased mortality. Eighty per cent of cases have the mitochondrial mutation m.3243A>G which is linked to respiratory transport chain dysfunction and oxidative stress in energy demanding organs, particularly muscle and brain. It typically presents with seizures, headaches and acute neurological deficits mimicking stroke. It is an important differential in patients presenting with stroke, seizures, or suspected central nervous system infection or vasculitis. Investigations should exclude other aetiologies and include neuroimaging and cerebrospinal fluid analysis. Mutation analysis can be performed on urine samples. There is no high quality evidence to support the use of any of the agents reported in small studies. This article summarises the core clinical, biochemical, radiological and genetic features and discusses the evidence for a number of potential therapies.

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Footnotes

  • Competing interests None.

  • Patient consent Obtained.

  • Ethics approval Written patient consent was obtained for the case report.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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