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Mitochondrial encephalopathy MELAS — SCE Neurology MCQ

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HardNeurogeneticsMitochondrial encephalopathy MELASSCE Neurology

A short adult has migraine-like episodes, seizures, lactic acidosis and transient cortical blindness. MRI shows a parieto-occipital cortical lesion crossing vascular territories, and maternal relatives have diabetes and deafness. Which diagnosis fits?

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Correct answer: D — MELAS syndrome, in this clinical phenotype

The best answer is “MELAS syndrome, in this clinical phenotype”. Stroke-like lesions outside arterial territories, lactic acidosis and maternal multisystem inheritance are characteristic of MELAS. “CADASIL” is a credible alternative elsewhere, but it fails the decisive discriminator in this case. “Posterior-circulation embolic stroke” is a credible alternative elsewhere, but it fails the decisive discriminator in this case. “Multiple sclerosis” is a credible alternative elsewhere, but it fails the decisive discriminator in this case. “Wilson disease” is a credible alternative elsewhere, but it fails the decisive discriminator in this case.

Reference: GeneReviews: MELAS: https://www.ncbi.nlm.nih.gov/books/NBK1233/