Leigh Disease

Synonyms

Disease, Leigh's

Encephalomyelitides, Subacute Necrotizing

Encephalomyelitis, Subacute Necrotizing

Encephalomyelopathies, Subacute Necrotizing

Encephalomyelopathy, Subacute Necrotizing

Encephalopathies, Subacute Necrotizing

Encephalopathy, Subacute Necrotizing

Encephalopathy, Subacute Necrotizing, Infantile

Encephalopathy, Subacute Necrotizing, Juvenile

Infantile Leigh Disease

Infantile Subacute Necrotizing Encephalopathy

Juvenile Leigh Disease

Juvenile Subacute Necrotizing Encephalopathy

Leigh Disease, Infantile

Leigh Disease, Juvenile

Leigh Syndrome

Leigh's Disease

Leighs Disease

Necrotizing Encephalomyelitides, Subacute

Necrotizing Encephalomyelitis, Subacute

Necrotizing Encephalomyelopathies, Subacute

Necrotizing Encephalomyelopathy, Subacute

Necrotizing Encephalopathies, Subacute

Necrotizing Encephalopathy, Subacute

Subacute Necrotizing Encephalomyelitides

Subacute Necrotizing Encephalomyelitis

Subacute Necrotizing Encephalomyelitis, Infantile

Subacute Necrotizing Encephalomyelopathies

Subacute Necrotizing Encephalomyelopathy

Subacute Necrotizing Encephalopathies

Subacute Necrotizing Encephalopathy

Subacute Necrotizing Encephalopathy, Infantile

Subacute Necrotizing Encephalopathy, Juvenile

A group of metabolic disorders primarily of infancy characterized by the subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, dysphagia, and lactic acidosis. Pathological features include spongy degeneration of the neuropile of the basal ganglia, thalamus, brain stem, and spinal cord. Patterns of inheritance include X-linked recessive, autosomal recessive, and mitochondrial. Leigh disease has been associated with mutations in genes for the PYRUVATE DEHYDROGENASE COMPLEX; CYTOCHROME-C OXIDASE; ATP synthase subunit 6; and subunits of mitochondrial complex I. (From Menkes, Textbook of Child Neurology, 5th ed, p850).