MERRF/MELAS overlap syndrome mimicking paradoxical cerebral embolism due to patent foramen ovale

Ng YS, Bindoff LA, Gorman GS, Klopstock T, Kornblum C, Mancuso M, McFarland R, Sue CM, Suomalainen A, Taylor RW, Thorburn DR, Turnbull DM (2021) Mitochondrial disease in adults: Recent advances and future promise. Lancet Neurol 20:573–584. https://doi.org/10.1016/s1474-4422(21)00098-3

Article  CAS  PubMed  Google Scholar 

Finsterer J (2023) Characteristics of stroke-like lesions on cerebral imaging. Ideggyogy Sz 76:5–10. https://doi.org/10.18071/isz.76.0005

Article  PubMed  Google Scholar 

Alves CAPF, Zandifar A, Peterson JT, Tara SZ, Ganetzky R, Viaene AN, Andronikou S, Falk MJ, Vossough A, Goldstein AC (2023) MELAS: Phenotype classification into classic-versus-atypical presentations. AJNR Am J Neuroradiol 44:602–610. https://doi.org/10.3174/ajnr.A7837

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kent DM, Wang AY (2025) Patent foramen ovale and stroke: A review. JAMA 334:1463–1473. https://doi.org/10.1001/jama.2025.10946

Article  PubMed  Google Scholar 

Salari M, Etemadifar M, Rashedi R, Rashedi R (2023) Patent foramen ovale leading to mismanagement in a mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes patient. Clin Case Rep 11:e7723. https://doi.org/10.1002/ccr3.7723

Article  PubMed  PubMed Central  Google Scholar 

Naini AB, Lu J, Kaufmann P, Bernstein RA, Mancuso M, Bonilla E, Hirano M, DiMauro S (2005) Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF. Arch Neurol 62:473–476. https://doi.org/10.1001/archneur.62.3.473

Article  PubMed  Google Scholar 

Slawek J, Kierdaszuk B, Tonska K, Kodron A, Schinwelski M, Sitek EJ, Bartnik E, Kaminska A, Kwiecinski H (2012) Mitochondrial encephalopathy in a patient with a 13042G > A de novo mutation. J Clin Pathol 65:1147–1149. https://doi.org/10.1136/jclinpath-2012-200778

Article  PubMed  Google Scholar 

Blok MJ, Spruijt L, de Coo IF, Schoonderwoerd K, Hendrickx A, Smeets HJ (2007) Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease. J Med Genet 44:e74. https://doi.org/10.1136/jmg.2006.045716

Article  CAS  PubMed  PubMed Central  Google Scholar 

Petrović Pajić S, Suštar Habjan M, Brecelj J, Fakin A, Volk M, Maver A, Jezernik G, Peterlin B, Glavač D, Hawlina M, Jarc-Vidmar M (2023) Leber hereditary optic neuropathy in a family of carriers of MT-ND5 m.13042G > T (A236S) Novel Variant. J Neuroophthalmol 43:341–347. https://doi.org/10.1097/WNO.0000000000001820

Article  PubMed  Google Scholar 

Valentino ML, Barboni P, Rengo C, Achilli A, Torroni A, Lodi R, Tonon C, Barbiroli B, Fortuna F, Montagna P, Baruzzi A, Carelli V (2006) The 13042G A/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype. J Med Genet 43:e38. https://doi.org/10.1136/jmg.2005.037507

Article  CAS  PubMed  PubMed Central  Google Scholar 

ChengW,Zhang Y, He L (2022) MRI features of stroke-like episodes in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes. Front Neurol 13:843386. https://doi.org/10.3389/fneur.2022.843386

Article  Google Scholar 

Comments (0)

No login
gif