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Mitochondrial Encephalomyopathy With Lactic Acidosis and Strokelike Episodes Presenting Before 50 Years of Age When a Stroke Is Not Just a Stroke

Cláudia Marques-Matos, MD, MSc1,2; Jorge Reis, MD3; Carina Reis, MD4; Lígia Castro, MD2; Marta Carvalho, MD1,2
[+] Author Affiliations
1Neurology Department, Centro Hospitalar São João, Porto, Portugal
2Faculty of Medicine, University of Porto, Porto, Portugal
3Pathology Department, Centro Hospitalar São João, Porto, Portugal
4Neuroradiology Department, Centro Hospitalar São João, Porto, Portugal
JAMA Neurol. 2016;73(5):604-606. doi:10.1001/jamaneurol.2015.5061.
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A man in his 50s presented with a 5-year history of stepwise loss of executive and somato-sensory functions in relation to what was interpreted as 2 previous stroke episodes; he was diagnosed with mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes.

Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is one of the most common maternally inherited mitochondrial diseases. However, its pleomorphic clinical manifestations and the fact that the maternal relatives carrying the same mutation may be asymptomatic or only oligosymptomatic makes the diagnosis sometimes elusive.

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Figure 1.
Brain Magnetic Resonance Imaging in a Case of Mitochondrial Encephalomyopathy With Lactic Acidosis and Strokelike Episodes Diagnosed in the Mid-50s

The report of previous evanescent lesions coupled with these images was highly suggestive of a metabolic disorder. The overall distribution of lesions on T2-weighted fluid-attenuated inversion recovery images (shown through cross-sections in A, B, and C), predominantly posterior, with no clear definition of a vascular territory, contributes to the diagnosis. The patient shows cortical diffusion restriction with subcortical diffusion facilitation on diffusion-weighted imaging (D) and apparent diffusion coefficient map (E) with only scarce cortical gadolinium enhancement (not shown).

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Figure 2.
DNA Sequencing of the MTTL1 Mitochondrial Gene With the Polymerase Chain Reaction Method

M3243 A>G mutation with a heteroplasmy of 15% in blood leucocytes (A) and 70% in skeletal muscle as determined by densitometry (B).

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