title: Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) may respond to adjunctive ketogenic diet.
abstract: BACKGROUND
  Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome can present management challenges. Refractory seizures and stroke-like episodes leading to disability are common.
  
  
  METHODS
  We analyzed the clinical, electrophysiologic, and radiologic data of a 22-year-old woman with multiple episodes of generalized and focal status epilepticus and migratory cortical stroke-like lesions who underwent muscle biopsy for mitochondrial genome sequencing.
  
  
  RESULTS
  Although initial mitochondrial genetic testing was negative, muscle biopsy demonstrated a mitochondrial DNA disease-causing mutation (m.3260A > G). New antiepileptic medications were added with each episode of focal status epilepticus with only temporary improvement, until a modified ketogenic diet and magnesium were introduced, leading to seizure freedom despite development of a new stroke-like lesion, and subsequent decrease in frequency of stroke-like episodes. We propose a metabolic model in which the ketogenic diet may lead to improvement of the function of respiratory chain complexes.
  
  
  CONCLUSIONS
  The ketogenic diet may lead to improvement of mitochondrial dysfunction in MELAS, which in turn may promote better seizure control and less frequent stroke-like episodes.
authors.affiliation: Division of Neurology, Department of Medicine, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada. Electronic address: claude.steriade@mail.mcgill.ca.
authors.forename: Claude
authors.initials: C
authors.lastname: Steriade
authors.affiliation: Division of Neurology, Department of Medicine, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Danielle M
authors.initials: DM
authors.lastname: Andrade
authors.affiliation: Division of Clinical and Metabolic Genetics, Department of Medicine, University Health Network, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Hanna
authors.initials: H
authors.lastname: Faghfoury
authors.affiliation: Department of Neuromuscular and Neurometabolic Disease, McMaster University Medical Center, Hamilton, Ontario, Canada.
authors.forename: Mark A
authors.initials: MA
authors.lastname: Tarnopolsky
authors.affiliation: Division of Neurology, Department of Medicine, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Peter
authors.initials: P
authors.lastname: Tai
mesh_terms: D001921:Brain / Q000473:pathology / Q000503:physiopathology; D055423:Diet, Ketogenic; D004569:Electroencephalography; D005260:Female; D006801:Humans; D017241:MELAS Syndrome / Q000178:diet therapy* / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D055815:Young Adult
keywords: MELAS; ketogenic diet; magnesium; refractory seizures; respiratory chain complexes; status epilepticus