Basic Science and Pathogenesis.

Area of Science:

• Neurology
• Genetics
• Mitochondrial Biology

Background:

• Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a rare genetic disorder.
• It stems from mutations in mitochondrial DNA, impacting energy production and leading to multiorgan dysfunction.
• Clinical signs include stroke-like episodes, seizures, and neurological deficits.

Purpose of the Study:

• To report a case of MELAS syndrome presenting with recurrent stroke-like episodes.
• To emphasize the diagnostic challenges and importance of considering mitochondrial disorders in atypical neurological presentations.
• To highlight the role of early metabolic testing and intervention in managing MELAS.

Main Methods:

• A 56-year-old male with hearing loss and hypertension presented with visual field defects.
• Initial stroke-like symptoms led to antiplatelet and anticoagulation therapy.
• Progressive neurological decline, elevated lactate/pyruvate, and MRI findings prompted suspicion of MELAS.

Main Results:

• The patient experienced recurrent neurological decline and stroke-like episodes despite vascular treatments.
• Biochemical tests showed elevated serum and CSF lactate and pyruvate.
• Brain MRI revealed progressive cortical hyperintensities consistent with MELAS.

Conclusions:

• This case underscores the necessity of suspecting mitochondrial disorders in patients with recurrent strokes, especially with atypical imaging and progression.
• Prompt recognition and metabolic evaluation are vital for effective MELAS management.
• Early intervention strategies can significantly improve patient outcomes in MELAS syndrome.