Young onset mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome: a case report

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Authors
Goel, Kartik ORCID logo 0009-0004-6696-3499
Singh, Divyanshu ORCID logo 0000-0002-6325-5153
Bhargav, Ravi ORCID logo 0009-0004-9641-3252
Kansagara, Harsh ORCID logo 0009-0009-4646-1033
Kumar, Shailesh ORCID logo 0009-0002-9216-0572
Yadav, Rupesh ORCID logo 0000-0002-6379-6101
Date
2024
Journal Title
Journal ISSN
Volume Title
Publisher
Towarzystwo Pomocy Doraźnej
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Creative Commons License
Creative Commons Attribution-NonCommercial 4.0 International License
Abstract
Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes Syndrome (MELAS) is a rare mitochondrial disorder characterised by diverse neurological and systemic manifestations. The key underlying mechanism of the disease is related to protein synthesis, energy depletion, and nitric oxide defciency. We present a case from a tertiary care hospital of a 19-year-old male with a history of seizure disorder and progressive neurological deficits. The patient was evaluated using clinical evaluations, laboratory tests, and radiological imaging to rule out the most serious complications. His symptoms included bilateral sensorineural hearing loss, visual disturbances, and recurrent headaches associated with vomiting. Neurological examination revealed signs of bilateral sensorineural hearing loss, visual field deficits, and asymmetric weakness in the four limbs. Diagnostic workup, including MRI findings of parieto-occipital lesions and elevated lactate levels, supported the diagnosis of MELAS syndrome. Genetic testing confirmed the presence of the m.3243A>G mutation in mitochondrial DNA. After a 2-week hospital stay, the patient was discharged with a follow-up plan. The main goals of treatment are to effectively manage disease complications and to enhance the patient's overall quality of life. Management involved the adjustment of antiepileptic therapy and initiation of mitochondrial supplements. This case underscores the clinical spectrum and diagnostic challenges of MELAS syndrome, emphasising the importance of early recognition and tailored treatment strategies to optimise patient outcomes.
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Keywords
mitochondrial encephalopathy    stroke-like episode    lactic acidosis
Citation
Goel, K., Singh, D., Bhargav, R., Kansagara, H., Kumar, S., & Yadav, R. (2024). Young onset mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome: a case report. [JD]. Critical Care Innovations, 7(4), 43–48. https://doi.org/10.32114/CCI.2024.7.4.43.48
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https://open.icm.edu.pl/handle/123456789/25209
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Artykuły / Articles