Abstract
A 6-month-old boy presented with a 2-month history of developmental regression, irritability, and opisthotonic posturing. MRI demonstrated T2 hyperintensity in bilateral cerebral and peri-dentate cerebellar white matter, internal capsules, and pyramidal tracts, with hypertrophy of the intracranial optic nerves. Magnetic resonance spectroscopy (MRS) showed elevated choline peak …
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