Leigh disease (subacute necrotizing encephalopathy) is a rare neurodegenerative disease caused by a variety of mutations - including mitchondrial DNA. Onset is prior to age 2 years in two-thirds of the cases and may even be neonatal. It is autosomal recessive, manifesting itself with multiple neurological deficits.

Pathologic findings characteristically include areas of gray-matter necrosis. These include basal ganglia, thalami, substantia nigra, brain stem nuclei and less often the cerebellum and spinal cord. Late in the course of the disease there is usually ventricular enlargement and cortical atrophy. The metabolic defect appears to involve the mitochondrial enzyme system related to cytochrome-c oxidase and/or pyruvate dehydrogenase.

In one study, 8/8 pts had lesions in the putamen,however there was frequent involvement of the globus pallidi,caudate, thalamus, and brain stem. Two of eight had diffuse white matter T2 hyperintensity. (REF 1)

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