| 释义 |
subacute necrotizing encephalomyelopathy 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. Synonym(s): Leigh syndrome, necrotizing encephalomyelopathy, necrotizing encephalopathy, subacute necrotizing encephalomyelopathysubacute necrotizing encephalomyelopathy Leigh's disease An AR condition of neonatal onset Clinical Swallowing and feeding difficulties, hypotonia, hyporeflexia, weakness, ataxia, peripheral neuropathy, external ophthalmoplegia, impaired hearing and vision, seizures, convulsions. See Wernicke's encephalopathy. Leigh, Denis, English psychiatrist, 1915–. Leigh disease - subacute encephalomyelopathy affecting infants. Synonym(s): subacute necrotizing encephalomyelopathy; necrotizing encephalomyelopathyLeigh syndrome |