title: Medical treatment with thiamine, coenzyme Q, vitamins E and C, and carnitine improved obstructive sleep apnea in an adult case of Leigh disease.
abstract: OBJECTIVE
  The multi-organ involvement of mitochondrial diseases means that patients are likely to be more vulnerable to sleep disturbances. We aimed to assess if early recognition and treatment of obstructive sleep apnea (OSA) in patients with Leigh disease may influence primary disease outcome.
  
  
  METHODS
  We describe a case of adult-onset Leigh disease presenting as severe brainstem encephalopathy of subacute onset. Based on the clinical symptoms that developed after the appearance of the neurological disease, an attended overnight polysomnography examination was performed.
  
  
  RESULTS
  A marked clinical recovery was seen after administration of high doses of thiamine, coenzyme Q, L-carnitine, and vitamins C and E, combined with effective treatment with continuous positive airway pressure for the underlying severe obstructive sleep apnea (OSA). The latter condition was diagnosed on the basis of suggestive symptoms that appeared a few weeks before the establishment of the neurological disease. The improvement in the neurological disease (based on clinical and brain MRI features) with the appropriate medical treatment also resulted in a significant improvement in the OSA.
  
  
  CONCLUSIONS
  Early recognition and treatment of sleep apnea may not only improve sleep and overall quality of life but also ameliorate the deleterious effects of nocturnal desaturations on the neurological features. This may be crucial for disease outcome when added to the generally advised pharmacological therapy.
authors: Sleep Disorders Unit, Department of Thoracic Medicine, University General Hospital, Medical School of the University of Crete, Heraklion, Crete, Greece.
authors: Charalampos
authors: C
authors: Mermigkis
authors: Izolde
authors: I
authors: Bouloukaki
authors: Vasileios
authors: V
authors: Mastorodemos
authors: Andreas
authors: A
authors: Plaitakis
authors: Vangelis
authors: V
authors: Alogdianakis
authors: Nikolaos
authors: N
authors: Siafakas
authors: Sophia
authors: S
authors: Schiza
mesh_terms: D000328:Adult; D001921:Brain / Q000187:drug effects / Q000473:pathology; D002331:Carnitine / Q000008:administration & dosage*; D004305:Dose-Response Relationship, Drug; D004359:Drug Therapy, Combination; D006801:Humans; D007888:Leigh Disease / Q000175:diagnosis / Q000188:drug therapy*; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D009460:Neurologic Examination / Q000187:drug effects; D017286:Polysomnography / Q000187:drug effects; D020181:Sleep Apnea, Obstructive / Q000175:diagnosis / Q000188:drug therapy*; D013831:Thiamine / Q000008:administration & dosage*; D014451:Ubiquinone / Q000008:administration & dosage*; D014807:Vitamin D / Q000008:administration & dosage*; D014810:Vitamin E / Q000008:administration & dosage*
chemical_list: D014451:Ubiquinone; D014807:Vitamin D; D014810:Vitamin E; D002331:Carnitine; D013831:Thiamine
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