[MELAS: diagnostic keys and treatment in the Intensive Care Unit]

Area of Science:

• Neurology
• Genetics
• Metabolic Disorders

Background:

• Cerebrovascular accidents (strokes) in young adults (<45 years) often have unknown causes, with cardiac embolism and arterial dissection being common culprits.
• Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a genetic disorder that can present with stroke-like symptoms, primarily affecting the posterior brain regions.
• The underlying pathology in MELAS stroke-like episodes is often metabolic rather than ischemic.

Observation:

• An 18-year-old patient presented with sudden, severe blindness.
• Ophthalmologic examination revealed no abnormalities.
• Neuroimaging confirmed infarction in both occipital lobules, indicative of posterior brain involvement.

Findings:

• The patient's presentation and neuroimaging findings were consistent with a stroke-like episode.
• While stroke is common in young adults, MELAS offers an alternative diagnosis for such presentations, particularly with posterior brain involvement.
• The metabolic insult mechanism in MELAS can lead to infarction mimicking ischemic stroke.

Implications:

• This case underscores the importance of considering MELAS in the differential diagnosis of stroke-like events in young individuals, especially those with posterior brain lesions.
• Early diagnosis of MELAS is crucial for appropriate management and genetic counseling.
• Understanding the metabolic basis of MELAS-related neurological events can guide future therapeutic strategies.