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Idiopathic Hypersomnia in a Patient Suffering from MELAS (Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes): a New Mitochondrial Feature?

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Abstract

Hypersomnia is a rare neurologic disorder characterized by an excessive daytime sleepiness with long naps, despite an undisturbed nocturnal sleep. The impaired daytime alertness and sleep inertia are different from general fatigue. This disorder is often classified as idiopathic. Here, we report the case of a young patient presenting both a mitochondrial disease and a hypersomnia. We discuss the links between the two pathologies and propose to systematically investigate personal and familial mitochondrial features in case of hypersomnia, to offer suitable genetic tests. Conversely, fatigue could be one of the complaints reported by patients with a confirmed mitochondrial disease, which is multifactorial. Sleep quality and somnolence should be examined in these patients as specific treatments exist for this debilitating disorder.

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References

  1. American Academy of Sleep Medicine. International classification of sleep disorders. 2014

  2. Rye DB, Donald L, Bliwise DL, Kathy Parker K, et al. Modulation of vigilance in the primary hypersomnias by endogenous enhancement of GABAA receptors. Sci Transl Med. 2012;4:161ra151.

    Article  Google Scholar 

  3. Dauvilliers Y, Evangelista E, Lopez R, Barateau L, Jaussent I, Cens T, et al. Absence of γ-aminobutyric acid-a receptor potentiation in central hypersomnolence disorders. Ann Neurol. 2016;80:259–68.

    Article  CAS  Google Scholar 

  4. Ali M, Auger RR, Slocumb NL, Morgenthaler TI. Idiopathic hypersomnia: clinical features and response to treatment. J Clin Sleep Med. 2009;5:562–8.

    Article  Google Scholar 

  5. Anderson KN, Pilsworth S, Sharples LD, Smith IE, Shneerson JM. Idiopathic hypersomnia: a study of 77 cases. Sleep. 2007;30:1274–81.

    Article  Google Scholar 

  6. Vernet C, Arnulf I. Idiopathic hypersomnia with and without long sleep time: a controlled series of 75 patients. Sleep. 2009;32:753–9.

    Article  Google Scholar 

  7. Miyagawa T, Toyoda H, Kanbayashi T et al. (2015) An association analysis of HLA-DQB1 with narcolepsy without cataplexy and idiopathic hypersomnia with/without long sleep time in a Japanese population. Hum Genome Var 2:15031

  8. Trotti LM, Bliwise DL. Brain MRI findings in patients with idiopathic hypersomnia. Clin Neurol Neurosurg. 2017;157:19–21.

    Article  Google Scholar 

  9. Sakaue S, Ohmuro J, Mishina T, et al. A case of diabetes, deafness, cardiomyopathy, and central sleep apnea: novel mitochondrial DNA polymorphisms. Tohoku J Exp Med. 2002;196:203–11.

    Article  Google Scholar 

  10. Ramezani RJ, Stacpoole PW. Sleep disorders associated with primary mitochondrial diseases. J Clin Sleep Med. 2014;10:1233–9.

    Article  Google Scholar 

  11. McKinney M, Jacksonville MC. Brain cholinergic vulnerability: relevance to behavior and disease. Biochem Pharmacol. 2005;70:1115–24.

    Article  CAS  Google Scholar 

  12. Gorman G, Elson JL, Newman J, et al. Perceived fatigue is highly prevalent and debilitating in patients with mitochondrial disease. Neuromuscul Disord. 2015;25:563–6.

    Article  Google Scholar 

  13. Smits BW, Westeneng HJ, van Hal MA, van Engelen BG, Overeem S. Sleep disturbances in chronic progressive external ophthalmoplegia. Eur J Neurol. 2012;19:176–8.

    Article  CAS  Google Scholar 

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Acknowledgements

David Seguy for patient’s care and Mylene Gilleron for metabolic investigations

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Céline Tard conceived the case report, collected the data, and wrote the paper; Claire Douillard contributed data; Grégory Kuchcinski contributed data; Anne-Frédérique Dessein contributed data; Luc Defebvre contributed the data analysis; Claire-Marie Dhaenens contributed data, data presentation, and edited the paper; and Christelle Charley Monaca contributed data and data presentation.

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Correspondence to Céline Tard.

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All procedures performed in this case report were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

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Tard, C., Douillard, C., Kuchcinski, G. et al. Idiopathic Hypersomnia in a Patient Suffering from MELAS (Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes): a New Mitochondrial Feature?. SN Compr. Clin. Med. 3, 2038–2041 (2021). https://doi.org/10.1007/s42399-021-00970-9

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