[P1-142] An Adolescent Male Presenting with Recurrent Stroke: A Case Report on Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like Episodes (MELAS)
Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome is a rare mitochondrial disease with a complex clinical presentation, making the diagnosis difficult. This is a case of a thirteen-year old male presenting with a three-year history of recurrent headache and seizures. He had normal development until age ten, when he developed severe headache where cranial imaging revealed meningeal enhancement and edema on the right parieto-temporo-occipital area. He was managed as viral encephalitis with resolution of symptoms. At age twelve, he developed forgetfulness, recurrence of seizures, and right-sided weakness. The impression was primary CNS vasculitis and was given methylprednisolone. Protein C and S, antithrombin III, and ANA were negative. Electroencephalogram showed focal slowing at the left fronto-temporo-parietal areas. Repeat cranial imaging showed an acute infarct on the left temporo-parietal lobe. Referral to a rheumatologist was done and the repeat imaging showed encephalomalacic changes in the cortical and subcortical right temporo-parieto-occipital lobes and left parietal lobe, with irregularity in the contour of the left anterior cerebral artery. Monthly cyclophosphamide was given. However, there was persistence of the symptoms and he developed right homonymous hemianopia despite immunosuppression. Follow up neuroimaging showed a subacute infarct on the bilateral parieto-temporal regions, with prominent lactate doublet on magnetic resonance spectroscopy. Serum lactate was elevated and muscle biopsy revealed ragged red fibers on modified gomori trichrome stain confirming the diagnosis. The patient’s clinical symptoms have a wide range of differentials but serial brain imaging studies strengthened the suspicion of the syndrome, prompting subsequent confirmatory diagnostic examinations.