Encephalomyelopathy, subacute necrotizing

Leigh s syndrome (subacute necrotizing encephalomyelopathy) is characterized by a variable combination of clinical abnormalities including cerebellar ataxia, developmental delay, mental regression, deafness, optic atrophy, hypotonia, and... 

J. S., Zborowska-Sluis, D. and Giberson, H.R. (1971) Subacute necrotizing encephalomyelopathy a review and a study of two families. Brain 94 1-30. 

Mutations in thiamin diphosphate dependent enzymes, in particular pyruvate dehydrogenase, may lead to Leigh s disease or subacute necrotizing encephalomyelopathy. This severe, inherited syndrome is characterized by movement disorders and, at later stages, by lactic acidosis. The children affected have a life expectancy of less than three years. 

Deficient activity of muscle cytochrome c oxidase has also been reported in a patient with a mitochondrial myopathy associated with chronic lactic acidaemia, growth failure and nerve deafness (Monnens etaL, 1975) and in a patient with subacute necrotizing encephalomyelopathy (Leigh s disease)... 

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