Orofacial pain in a female patient with MELAS syndrome. A case report

Bartosz Dalewski, Halina Ey-Chmielewska, Małgorzata Kudlik, Bogumiła Frączak



Introduction: A great number of hereditary diseases have been correctly diagnosed and treated recently as a result of the rapid progress and constant development of genetic research.

Case report: This study presents the case of 24-year-old female patient suffering from MELAS syndrome, which is inherited in the maternal line – as are other mitochondrial diseases. This disorder was first described in 1984 by Steven G. Pavlakis et al. Our paper describes prosthetic procedures that were undertaken as treatment for the patient mentioned above, who had been referred from a hospital neurological clinic for consultation and possible treatment due to her refractory migraines. Regardless of the previously noted symptoms, the patient was examined for bruxism, and considering the positive outcome of the test, typical treatment, including a stabilization appliance was implemented. It gives significant improvement and lesser occurrence of neurological symptoms.

Conclusions: The patient stays under the constant, periodic control of our department.


MELAS syndrome; occlusal splint; bruxism; doxepin; venlafaxine; surface electromyography

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Pavlakis SG, Phillips PC, DiMauro S, De Vivo DC, Rowland LP. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome. Ann Neurol 1984;16:481-8. doi: 10.1002/ana.410160409.

mtDNA and its role in ancestry. Genebase Tutorials. April 5, 2014. http://www.genebase.com/learning/article/17 (18.08.2017).

Okeson JP. Management of temporomadibular disorders and occlusion. 7th ed. Elsevier; 2012.

El-Hattab AW, Hsu JW, Emrick LT, Wong L-JC, Craigen WJ, Jahoor F, et al. Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation. Mol Genet Metab 2012;105(4):607-14. doi: 10.1016/j.ymgme.2012.01.016.

Karicheva OZ, Kolesnikova OA, Schirtz T, Vysokikh MY, Mager-Heckel A-M, Lombès A, et al. Correction of the consequences of mitochondrial 3243A>G mutation in the MT-TL1 gene causing the MELAS syndrome by tRNA import into mitochondria. Nucleic Acids Res 2011;39(18):8173-86. doi: 10.1093/nar/gkr546.

Rodan LH, Wells GD, Banks L, Thompson S, Schneiderman JE, Tein I. L-arginine affects aerobic capacity and muscle metabolism in MELAS (mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes) syndrome. PLoS ONE 2015;10(5):e0127066. doi: 10.1371/journal.pone.0127066.

Li XM, Chlan-Fourney J, Juorio AV, Bennett VL, Shrikhande S, Bowen RC. Antidepressants upregulate messenger RNA levels of the neuroprotective enzyme superoxide dismutase (SOD1). J Psychiatry Neurosci 2000;25(1),43-7.

Undurraga J, Baldessarini RJ. Randomized, placebo-controlled trials of antidepressants for acute major depression: thirty-year meta-analytic review. Neuropsychopharmacology 2012;37(4):851-64. doi: 10.1038/npp.2011.306.

DOI: https://doi.org/10.21164/pomjlifesci.409

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