118
Views
0
CrossRef citations to date
0
Altmetric
Case Report

Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome: a case report

, , , , &
Pages 227-235 | Received 25 Dec 2022, Accepted 22 Feb 2023, Published online: 05 Mar 2023

References

  • Farrar GJ, Chadderton N, Kenna PF, Millington-Ward S. Mitochondrial disorders: aetiologies, models systems, and candidate therapies. Trends Genet. 2013;29(8):488–497. doi:10.1016/j.tig.2013.05.005.
  • El-Hattab AW, Adesina AM, Jones J, Scaglia F. MELAS syndrome: clinical manifestations, pathogenesis, and treatment options. Mol Genet Metab. 2015;116(1–2):4–12. doi:10.1016/j.ymgme.2015.06.004.
  • Liang C, Ahmad K, Sue CM. The broadening spectrum of mitochondrial disease: shifts in the diagnostic paradigm. Biochim Biophys Acta. 2014;1840(4):1360–1367. doi:10.1016/j.bbagen.2013.10.040.
  • Goto Y, Koga Y, Horai S, Nonaka I. Chronic progressive external ophthalmoplegia: a correlative study of mitochondrial DNA deletions and their phenotypic expression in muscle biopsies. J Neurol Sci. 1990;100(1–2):63–69. doi:10.1016/0022-510x(90)90014-e.
  • Goto Y, Nonaka I, Horai S. A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature. 1990;348(6302):651–653. doi:10.1038/348651a0.
  • Shoffner JM, Lott MT, Lezza AM, Seibel P, Ballinger SW, Wallace DC. Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation. Cell. 1990;61(6):931–937. doi:10.1016/0092-8674(90)90059-n.
  • Zhang J, Guo J, Fang W, Jun Q, Shi K. Clinical features of MELAS and its relation with A3243G gene point mutation. Int J Clin Exp Pathol. 2015;8:13411–13415.
  • 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(4):481–488. doi:10.1002/ana.410160409.
  • Fan HC, Lee HF, Yue CT, Chi CS. Clinical characteristics of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes. Life (Basel). 2021;11(11):1111. doi:10.3390/life11111111.
  • Nesbitt V, Pitceathly RD, Turnbull DM, et al. The UK MRC mitochondrial disease patient cohort study: clinical phenotypes associated with the m.3243A>G mutation–implications for diagnosis and management. J Neurol Neurosurg Psychiatry. 2013;84(8):936–938.doi:10.1136/jnnp-2012-303528.
  • Rifai Z, Welle S, Kamp C, Thornton CA. Ragged red fibers in normal aging and inflammatory myopathy. Ann Neurol. 1995 Jan;37(1):24–29. doi:10.1002/ana.410370107.
  • Johnston W, Karpati G, Carpenter S, Arnold D, Shoubridge EA. Late-onset mitochondrial myopathy. Ann Neurol. 1995;37(1):16–23. doi:10.1002/ana.410370106.
  • Tetsuka S, Ogawa T, Hashimoto R, Kato H. Clinical features, pathogenesis, and management of stroke-like episodes due to MELAS. Metab Brain Dis. 2021 Dec;36(8):2181–2193. doi:10.1007/s11011-021-00772-x.
  • Felczak P, Lewandowska E, Stępniak I, et al. Pathology of mitochondria in MELAS syndrome: an ultrastructural study. Pol J Pathol. 2017;68(2):173–181.doi:10.5114/pjp.2017.65021.
  • Hohage H, Raffelsiefer A, Rahn KH. Schlaganfälle, Epilepsie und abdominelle Schmerzen als Leitsymptome einer mitochondrialen Enzephalomyopathie [Stroke, epilepsy and abdominal pain as leading symptoms in a case of mitochondrial encephalomyopathy]. Z Gesamte Inn Med. Jan 1993;48(1):35–40.
  • Vincent AE, Ng YS, White K, et al. The spectrum of mitochondrial ultrastructural defects in mitochondrial myopathy. Sci Rep. 2016;6(1):30610.doi:10.1038/srep30610.
  • Finsterer J, Hayman J. Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes/Leigh overlap syndrome due to variant m.13513G>A in MT-ND5. Cureus. 2022 May 5;14(5):e24746. doi:10.7759/cureus.24746.
  • Sproule DM, Kaufmann P. Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes: basic concepts, clinical phenotype, and therapeutic management of MELAS syndrome. Ann N Y Acad Sci. 2008;1142(1):133–158. doi:10.1196/annals.1444.011.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.