Diffuse posterior leukoencephalopathy in MELAS without stroke-like episodes: A case report.

Area of Science:

• Neurology
• Genetics
• Neuroimaging

Background:

• Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a common mitochondrial disease.
• White matter lesions are increasingly recognized in mitochondrial diseases, not solely in lysosome or peroxisome disorders.
• Approximately 50% of MELAS patients exhibit white matter lesions, alongside stroke-like episodes.

Observation:

• A 48-year-old female presented with loss of consciousness and extremity twitching, with a history of epilepsy and diabetes.
• Brain MRI revealed symmetrical high-intensity lesions in the bilateral parietal and occipital lobes, consistent with white matter abnormalities.
• Genetic analysis identified the A3243G point mutation in mitochondrial DNA, confirming MELAS syndrome.

Findings:

• The patient received symptomatic treatment including mechanical ventilation, antiepileptics, and supportive care with vitamins and coenzyme Q10.
• Following treatment, seizure activity ceased, and the patient showed clinical improvement.
• The case demonstrated MELAS syndrome presenting with diffuse posterior cerebral white matter lesions without overt stroke-like episodes.

Implications:

• This case underscores the importance of considering MELAS syndrome in patients with unexplained symmetric posterior cerebral white matter lesions.
• Early diagnosis and appropriate management, including antioxidant therapy, can lead to improved patient outcomes.
• Further research into the diverse clinical manifestations of MELAS syndrome is warranted.