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Melas syndrome

S K Singh1, D Sarin, J M Puliyel

  • 1Department of Pediatrics, St. Stephen's Hospital, Tis Hazari, Delhi.

Indian Journal of Pediatrics
|May 8, 2000
PubMed

Insights

This case study highlights MELAS syndrome, a mitochondrial disease, in an 11-year-old Indian boy experiencing recurrent strokes and developmental delays. Early diagnosis and management are crucial for mitochondrial disorders.

Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • Mitochondrial myopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a rare genetic disorder.
  • It typically presents in childhood with neurological and muscular symptoms.

Observation:

  • An 11-year-old male presented with stroke-like symptoms including headache, vomiting, right-sided weakness, and focal seizures.
  • He had a history of five previous stroke episodes since infancy, with progressive developmental delays.
  • Elevated serum and CSF lactic acid levels and ragged red fibers on muscle biopsy confirmed mitochondrial dysfunction.

Findings:

  • Despite normal EEG, CT, and MRI during the current episode, the patient showed spontaneous recovery within 7 days.
  • Recovery time shortened with each successive stroke episode, indicating a potential adaptive response or disease progression pattern.
  • This case represents the first documented instance of MELAS syndrome in the Indian population.

Implications:

  • This case underscores the importance of considering MELAS syndrome in pediatric patients with recurrent stroke-like episodes and mitochondrial dysfunction.
  • The unique recovery pattern observed warrants further investigation into the pathophysiology and potential therapeutic strategies for MELAS syndrome.
  • Increased awareness and reporting of MELAS syndrome in diverse populations like India are crucial for improving diagnosis and patient care.

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