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Leigh dis·ease(lē), [MIM*256000]
a rare fatal mitochondrial disorder affecting principally infants and young children, manifested as seizures, psychomotor retardation, spasticity, myoclonus, optic atrophy, cranial nerve palsies, and ataxia; due to deficiencies of cytochrome c oxidase or NADH-ubiquinone oxidoreductase or other enzymes involved in energy metabolism; pathologically, there is widespread symmetric necrosis; most often autosomal recessive transmisstion, but X-link recessive and mitochondrial inheritances have been described.
Etymology: Archibald Denis Leigh, British neuropathologist, b. 1915
an encephalopathy of unclear clinical and pathological criteria, causing neuropathological damage like that of the Wernicke-Korsakoff syndrome. It occurs in two forms: the infantile form, which may be the same as pyruvate carboxylase deficiency, is characterized by degeneration of gray matter with necrosis and capillary proliferation in the brainstem; hypotonia, seizures, and dementia; anorexia and vomiting; slow or arrested development; and ocular and respiratory disorders. Death usually occurs before age 3. The adult form usually first manifests as bilateral optic atrophy with central scotoma and color blindness; then there is a quiescent period of up to 30 years before late symptoms appear, such as ataxia, spastic paresis, clonic jerks, grand mal seizures, psychic lability, and mild dementia. Also called subacute necrotizing encephalomyelopathy, subacute necrotizing encephalopathy. See also Wernicke-Korsakoff syndrome.
Leigh dis·ease(lā di-zēz')
Subacute encephalomyelopathy affecting infants, causing seizures, spasticity, optic atrophy, and dementia; the genetic causation is heterogeneous; may be associated with deficiency of cytochrome c oxidase or nicotinamide adenine dinucleotide (reduced form)-ubiquinone oxidoreductase or other enzymes involved in energy metabolism. Autosomal recessive, X-linked recessive and mitochondrial inheritance have been described; mutations have been identified in the surfeit-1 gene (SURF) on chromosome 9, in a mtDNA-encoded subunit of adenosine triphosphate synthase, in the X-linked E1-alpha subunit of pyruvate dehydrogenase, and in several subunits of mitochondrial complex I.
Leigh,Denis, English psychiatrist, 1915–.
Leigh disease - subacute encephalomyelopathy affecting infants. Synonym(s): subacute necrotizing encephalomyelopathy; necrotizing encephalomyelopathy