A Case Of MELAS Syndrome In A Young Male Presenting With Acute Bilateral Cerebral Infarction: A Case Report

Authors

  • Dr Namita Anand Soni
  • Dr Anand Soni
  • Dr Saurin Swapnil Shah
  • Dr Anway Pravin Shingi

DOI:

https://doi.org/10.53555/pqre1x19

Keywords:

MELAS syndrome, mitochondrial disorders, young adults, bilateral infarcts, genetic testing, case report.

Abstract

We presented the case of a 19-year-old male who arrived at the emergency department with sudden-onset involuntary movements, uprolling of eyeballs, and frothing at the mouth, suggestive of an acute neurological event. The patient was stabilized with intravenous levetiracetam and midazolam, and neuroimaging revealed bilateral acute infarcts without hemorrhagic transformation. Despite an exhaustive workup for autoimmune diseases and hypercoagulable states, no significant findings were observed. A neurology opinion and 2D echocardiography further ruled out conventional etiologies. Suspecting a mitochondrial disorder, genetic testing confirmed MELAS syndrome through exon sequencing. This case emphasizes the importance of considering mitochondrial disorders like MELAS in young patients with unexplained strokes and neurological symptoms.

 

 

Author Biographies

  • Dr Namita Anand Soni

    Associate Professor at Department of Medicine, MGM Medical College, Ch. Sambhajinagar, Maharashtra, India

     

  • Dr Anand Soni

    Associate Professor at Department of Medicine, MGM Medical College, Ch. Sambhajinagar, Maharashtra, India.

     

  • Dr Saurin Swapnil Shah

    Junior Resident (2nd Year) at Department of   Medicine, MGM Medical College, Ch. Sambhajinagar, Maharashtra, India. 

  • Dr Anway Pravin Shingi

    Junior Resident (3rd Year) at Department of Medicine, MGM Medical College, Ch. Sambhajinagar, Maharashtra, India. 

References

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Published

23-09-2025

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