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2024 | 7 | 4 | 43-48

Article title

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

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Abstracts

EN
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.

Year

Volume

7

Issue

4

Pages

43-48

Physical description

Dates

published
2024

Contributors

author
  • Department of General Medicine, Atal Bihari Vajpayee Institute of Medical Sciences and Dr RML Hospital, New Delhi, India
  • Department of General Medicine, Atal Bihari Vajpayee Institute of Medical Sciences and Dr RML Hospital, New Delhi, India
author
  • Department of General Medicine, Atal Bihari Vajpayee Institute of Medical Sciences and Dr RML Hospital, New Delhi, India
  • Department of General Medicine, Atal Bihari Vajpayee Institute of Medical Sciences and Dr RML Hospital, New Delhi, India
  • Department of General Medicine, Atal Bihari Vajpayee Institute of Medical Sciences and Dr RML Hospital, New Delhi, India
author
  • Department of Anesthesiology, Atal Bihari Vajpayee Institute of Medical Sciences and Dr RML Hospital, New Delhi, India

References

  • Cox BC, Pearson JY, Mandrekar J, Gavrilova RH. The clinical spectrum of MELAS and associated disorders across ages: a retrospective cohort study. Front Neurol. 2023;14: 1298569. doi: https://doi.org/10.3389/fneur.2023.1298569
  • 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: https://doi.org/10.3390/life11111111
  • Acquaah J, Ferdinand P, Roffe C. Adult-onset mitochondrial encephalomyopathy, lactic acidosis and strokelike episodes (MELAS): a diagnostic challenge. BMJ Case Rep. 2024; 17(2): e256306. doi: https://doi.org/10.1136/bcr-2023-256306
  • Lee HN, Eom S, Kim SH, Kang HC, Lee JS, Kim HD, et al. Epilepsy Characteristics and Clinical Outcome in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS). Pediatr Neurol. 2016; 64: 59-65. doi: https://doi.org/10.1016/j.pediatrneurol.2016.08.016
  • Demarest ST, Whitehead MT, Turnacioglu S, Pearl PL, Gropman AL. Phenotypic analysis of epilepsy in the mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes-associated mitochondrial DNA A3243G mutation. J Child Neurol. 2014; 29(9): 1249-1256. doi: https://doi.org/10.1177/0883073814538511
  • Yatsuga S, Povalko N, Nishioka J, Katayama K, Kakimoto N, Matsuishi T, et al. MELAS: a nationwide prospective cohort study of 96 patients in Japan. Biochim Biophys Acta. 2012; 1820(5): 619-624. doi: https://doi.org/10.1016/j.bbagen.2011.03.015
  • Amaral O. Inborn Errors of Metabolism: From Neonatal Screening to Metabolic Pathways. Eur J Hum Genet. 2016; 24(4): 623. doi: https://doi.org/10.1038/ejhg.2015.145
  • Subedi RC, Paudel R, Paudel S, Thapa L, Phuyal S, Kharbuja N, et al. Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome: a case report from Nepal. Ann Med Surg (Lond). 2023; 85(6): 3026-3030. doi: https://doi.org/10.1097/MS9.0000000000000712
  • Wang Y, Zhang W, Jiang X. Prolonged misdiagnosis of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome: A case report. Medicine (Baltimore). 2023; 102(47): e36008. doi: https://doi.org/10.1097/MD.0000000000036008
  • Lahiri D, Sawale VM, Banerjee S, Dubey S, Roy BK, Das SK. Chorea-ballism as a dominant clinical manifestation in heteroplasmic mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome with A3251G mutation in mitochondrial genome: a case report. J Med Case Rep. 2019; 13(1): 63. doi: https://doi.org/10.1186/s13256-018-1936-0
  • Finsterer J, Mahjoub SZ. Mitochondrial toxicity of antiepileptic drugs and their tolerability in mitochondrial disorders. Expert Opin Drug Metab Toxicol. 2012; 8(1): 71-79. doi: https://doi.org/10.1517/17425255.2012.644535

Document Type

Publication order reference

Identifiers

Biblioteka Nauki
55994167

YADDA identifier

bwmeta1.element.ojs-doi-10_32114_CCI_2024_7_4_43_48
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