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Magnetic resonance spectroscopy and diffusion‐weighted imaging findings in a child with Leigh's disease

Leigh’s syndrome is a rare inherited metabolic neurodegenerative disease due to a mitochondrial enzyme deficiency that can potentially occur in any site of the enzyme pathway for respiratory metabolism. The disease usually affects infants and children; adult onset cases have been described occasionally. Leigh’s disease usually has involvement of the periaqueductal gray matter, the basal ganglia (particularly the putamina) and the white matter. 1,2 We present a 4-year-old girl with this disorder.