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 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.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Leigh D (1951) Subacute necrotizing encephalomyelopathy in an infant. J Neurol Neurosurg Psychiatry 14:216–221
Finsterer J (2008) Leigh and Leigh-like syndrome in children and adults. Pediatr Neurol 39:223–235
Tucker EJ, Compton AG, Thorburn DR (2010) Recent advances in the genetics of mitochondrial encephalopathies. Curr Neurol Neurosci Rep 10:277–285
Goldenberg PC, Steiner RD, Merkens LS, Dunaway T, Egan RA, Zimmerman EA, Nesbit G, Robinson B, Kennaway NG (2003) Remarkable improvement in adult Leigh syndrome with partial cytochrome c oxidase deficiency. Neurology 60:865–868
Ho KL, Piligian JT, Chason JL, Ho KL, Piligian JT, Chason JL (1979) Adult form of subactute necrotizing encephalomyelopathy. Arch Pathol Lab Med 103:344–347
Masó E, Ferrer I, Herraiz J, Roquer J, Serrano S (1984) Leigh’s syndrome in an adult. J Neurol 231:253–257
Gray F, Louarn F, Gherardi R, Eizenbaum JF, Marsault C (1984) Adult form of Leigh’s disease: a clinicopathological case with CT scan examination. J Neurol Neurosurg Psychiatry 47:1211–1215
Kissel JT, Kolkin S, Chakeres D, Boesel C, Weiss K (1987) Magnetic resonance imaging in a case of autopsy-proved adult subacute necrotizing encephalomyelopathy (Leigh’s disease). Arch Neurol 44:563–566
Fulham M, Lawrence C, Harper C (1988) Diagnostic clues in an adult case of Leigh’s disease. Med J Aust 149:320–322
Nagashima T, Mori M, Katayama K, Nunomura M, Nishihara H, Hiraga H, Tanaka S, Goto Y, Nagashima K (1999) Adult Leigh syndrome with mitochondrial DNA mutation at 8993. Acta Neuropathol 97:416–422
Malojcic B, Brinar V, Poser C, Djakovic V (2004) An adult case of Leigh disease. Clin Neurol Neurosurg 106:237–240
Wick R, Scott G, Byard RW (2007) Mechanisms of unexpected death and autopsy findings in Leigh syndrome (subacute necrotising encephalomyelopathy). J Forensic Leg Med 14:42–45
McKelvie P, Infeld B, Marotta R, Chin J, Thorburn D, Collins S (2012) Late-adult onset Leigh syndrome. J Clin Neurosci 19:195–202
Whetsell WO, Plaitakis A (1978) Leigh’s disease in an adult with evidence of “inhibitor factor” in family members. Ann Neurol 3:519–524
Tatsumi C, Takahashi M, Yorifuji S, Kitaguchi M, Tarui S (1987) Mitochondrial encephalomyopathy, ataxia, and sleep apnea. Neurology 37:1429–1430
Tatsumi C, Takahashi M, Yorifuji S, Nishikawa Y, Kitaguchi M, Hashimoto S, Tarui S (1988) Mitochondrial encephalomyopathy with sleep apnea. Eur Neurol 28:64–69
Yasaki E, Saito Y, Nakano K, Katsumori H, Hayashi K, Nishikawa T, Osawa M (2001) Characteristics of breathing abnormality in Leigh and its overlap syndromes. Neuropediatrics 32:299–306
Manni R, Piccolo G, Banfi P, Cerveri I, Bruschi C, Zoia C, Tartara A (1991) Respiratory patterns during sleep in mitochondrial myopathies with ophthalmoplegia. Eur Neurol 31:12–17
Sembrano E, Barthlen GM, Wallace S, Lamm C (1997) Polysomnographic findings in a patient with the mitochondrial encephalomyopathy NARP. Neurology 49:1714–1717
Netzer N, Werner P, Jochums I, Lehmann M, Strohl KP (1998) Blood flow of the middle cerebral artery with sleep-disordered breathing: correlation with obstructive hypopneas. Stroke 29:87–93
Conflicts of interest
The authors declare that they have no conflict of interest.
Author information
Authors and Affiliations
Corresponding author
Additional information
Charalampos Mermigkis and Izolde Bouloukaki made equal contributions to this work.
Rights and permissions
About this article
Cite this article
Mermigkis, C., Bouloukaki, I., Mastorodemos, V. et al. Medical treatment with thiamine, coenzyme Q, vitamins E and C, and carnitine improved obstructive sleep apnea in an adult case of Leigh disease. Sleep Breath 17, 1129–1135 (2013). https://doi.org/10.1007/s11325-013-0816-5
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s11325-013-0816-5