Medical treatment with thiamine, coenzyme Q, vitamins E and C, and carnitine improved obstructive sleep apnea in an adul
- PDF / 762,691 Bytes
- 7 Pages / 595.276 x 790.866 pts Page_size
- 37 Downloads / 212 Views
CASE REPORT
Medical treatment with thiamine, coenzyme Q, vitamins E and C, and carnitine improved obstructive sleep apnea in an adult case of Leigh disease Charalampos Mermigkis & Izolde Bouloukaki & Vasileios Mastorodemos & Andreas Plaitakis & Vangelis Alogdianakis & Nikolaos Siafakas & Sophia Schiza
Received: 12 September 2012 / Revised: 20 January 2013 / Accepted: 23 January 2013 # Springer-Verlag Berlin Heidelberg 2013
Abstract Purpose 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 Charalampos Mermigkis and Izolde Bouloukaki made equal contributions to this work. C. Mermigkis : I. Bouloukaki : N. Siafakas : S. Schiza Sleep Disorders Unit, Department of Thoracic Medicine, University General Hospital, Medical School of the University of Crete, Heraklion, Crete, Greece C. Mermigkis : V. Alogdianakis Sleep Disorders Center, 401 General Army Hospital, Athens, Greece V. Mastorodemos : A. Plaitakis Neurology Department, School of Medicine, University of Crete, Heraklion, Crete, Greece I. Bouloukaki (*) Department of Respiratory Medicine, University of Crete, Heraklion, Crete, Greece e-mail: [email protected]
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. Keywords Obstructive sleep apnea . Leigh disease . Adults . Treatment
Introduction In 1951, Leigh [1] first described the case of an infant who succumbed to a subacute neurological disorder characterized by necrotizing encephalomyelopathy. Since then, diverse clinical syndromes, sharing similar neuropathological features, have been classified under subacute necrotizing encephalomyelopathy (SNE) or Leigh disease/syndrome [2]. Regarding the disease’s etiology, the majority of the SNE cases describe
Data Loading...
