NeuroGenetics
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Question 1
A child has bilateral symmetric T2 hyperintensity on MRI involving the putamen, thalami, and periaqueductal gray matter, with elevated plasma lactate. This MRI pattern is most consistent with:
A
MELAS — posterior-predominant stroke-like lesions not respecting vascular territories
B
Leigh syndrome (subacute necrotizing encephalopathy) — bilateral symmetric basal ganglia and brainstem involvement
C
MERRF — diffuse white matter T2 signal abnormality with cortical atrophy
D
Leber hereditary optic neuropathy — optic nerve T2 signal with relative brain sparing
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