Leigh syndrome, also known as subacute necrotizing encephalomyelopathy, is an autosomal recessive disorder that is a mitochondrial encephalomyopathy.
Leigh syndrome is a heterogeneous group of disorders characterized by defects in pyruvate lyase and cytochrome C oxidase leading to mitochondrial dysfunction, which results in impaired cellular energy metabolism.
Leigh syndrome occurs most often before the age of ten and is more common in infants and young children, with a lesser incidence in adults. Its symptoms include convulsions, dementia, ataxia, and optic neuropathy. There is currently no definitive and effective treatment for the condition, and the prognosis is poor.
Clinical diagnosis, pathologic analysis and genetic diagnosis are required to confirm the diagnosis of Leigh syndrome. It is recommended that patients should seek medical attention if signs of the disease appear to avoid delays.