Purpose or Case Report: Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-like Episodes (MELAS) is a rare mitochondrial disorder primarily affecting children and young adults, typically presenting between the ages of 2 and 40. It is characterized by tRNA mutations that lead to deficiencies in respiratory chain protein complexes, resulting in disrupted intracellular energy production and impaired cellular function. Common clinical manifestations include stroke-like episodes, hemiparesis, seizures, recurrent headaches, and muscle weakness, with progressive cerebral atrophy and cognitive decline occurring over time. Diagnosis often relies on magnetic resonance imaging (MRI), which frequently shows cortical lesions that do not follow vascular territories.
This case report details an 11-year-old girl who presented in early 2023 with severe new-onset headaches and blurred vision. After multiple consultations with pediatricians and neurologists, a brain MRI was ordered, revealing chronic stroke-like lesions in various regions, predominantly in the posterior brain, along with calcified basal ganglia and a lactate doublet on spectroscopy. Lactic acidosis was detected, and genetic testing confirmed MELAS syndrome due to a mutation in the MT-TL1 gene (m.3243A>G). Following her diagnosis, she began treatment with Coenzyme Q10, L-Arginine, and L-Carnitine. However, earlier this year, she was hospitalized again due to right-sided hemiparesis. A follow-up MRI showed a new stroke-like lesion in the left precentral gyrus, characterized by cortical diffusion restriction and high signal intensity on the FLAIR sequence, exemplifying the characteristic migrating stroke-like lesions associated with MELAS. In conclusion, this case highlights the critical importance of early recognition and diagnosis of MELAS, a rare mitochondrial disorder characterized by complex neurological manifestations. Key MRI findings, including stroke-like lesions that migrate without adhering to vascular territories, a lactate doublet on MR spectroscopy, and calcified basal ganglia, are vital for diagnosis. Ultimately, confirming the diagnosis through genetic testing is essential for effective management and treatment.
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