Subacute Necrotizing Encephalomyelopathy Leighs Disease

Pathogenesis and Pathophysiology. At the molecular level, Leigh's disease can be caused by both mendelian (autosomal recessive nuclear coded DNA) and mtDNA defects.y , y Areas affected are primarily the basal ganglia, brain stem, and cerebellum. The cerebral cortex and retinal pigment are less involved. Pathologically, there is spongy degeneration, demyelination, gliosis, necrosis, relative sparing of neurons, and capillary proliferation. Several enzyme complexes involved in mitochondrial respiratory metabolism show defects, singly or in combination. These are in cytochrome C oxidase (COX; complex IV), NADH dehydrogenase (complex I), pyruvate dehydrogenase complex (PDHC), and pyruvate carboxylase. The most commonly reported defect is within the ATPase 6 gene at mtDNA position mt8993, a T to G or T to C mutation, resulting in severe defects of ATP production. y This is the same gene defect that causes the NARP syndrome (neuropathy, ataxia, and retinitis pigmentosa) in adults.

Epidemiology and Risk Factors. Leigh's disease is a relatively common neurometabolic disease. About one half of patients are diagnosed in the first year of life, usually

_TABLE 31-5 -- MITOCHONDRIAL ENZYME DEFECTS*_

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