Leigh Disease

Leighs sjukdom

Svensk definition

En grupp ämnesomsättningsrubbningar hos barn som kännetecknas av subakut psykomotorisk utvecklingsstörning, hypotoni, ataxi, svaghet, synförlust, onormala ögonrörelser, krampanfall, sväljningssvårigheter och laktacidos. Patologiska tecken är svampig omvandling av de basala gangliernas nervskynke, talamus, hjärnstammen och ryggmärgen. Ärftlighetsmönstren är X-kopplat recessivt, autosomalt recessivt och mitokondriskt. Sjukdomen har kopplats till generna för pyruvatdehydrogenaskomplexet, cytokrom C-oxidas, ATP-syntasunderenhet 6 och underenheter av mitokondriekomplex I.

Engelsk definition

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).

Svenska synonymer

Inga svenska synonymer finns.

Engelska synonymer

Encephalomyelopathy, Subacute Necrotizing Encephalomyelopathies, Subacute Necrotizing Necrotizing Encephalomyelopathies, Subacute Necrotizing Encephalomyelopathy, Subacute Subacute Necrotizing Encephalomyelopathies Subacute Necrotizing Encephalomyelopathy Leigh Syndrome Leigh's Disease Disease, Leigh's Leighs Disease Subacute Necrotizing Encephalopathy Encephalomyelitis, Subacute Necrotizing Encephalomyelitides, Subacute Necrotizing Necrotizing Encephalomyelitides, Subacute Necrotizing Encephalomyelitis, Subacute Subacute Necrotizing Encephalomyelitides Subacute Necrotizing Encephalomyelitis Encephalopathy, Subacute Necrotizing Encephalopathies, Subacute Necrotizing Necrotizing Encephalopathies, Subacute Necrotizing Encephalopathy, Subacute Subacute Necrotizing Encephalopathies Encephalopathy, Subacute Necrotizing, Juvenile Subacute Necrotizing Encephalopathy, Juvenile Leigh Disease, Juvenile Juvenile Leigh Disease Juvenile Subacute Necrotizing Encephalopathy Encephalopathy, Subacute Necrotizing, Infantile Subacute Necrotizing Encephalopathy, Infantile Leigh Disease, Infantile Subacute Necrotizing Encephalomyelitis, Infantile Infantile Leigh Disease Infantile Subacute Necrotizing Encephalopathy