It is a genetically heterogeneous mitochondrial disease associated with mutations in more than 30 genes, both nuclear and mitochondrial, coding for proteins in the respiratory chain complex. One of the more common forms of the disease is the form associated with SURF1 gene mutations, inherited in an autosomal recessive manner.
The clinical picture of Leigh’s syndrome is accompanied by symptoms of involvement of the nervous system, skeletal muscles, heart, liver and kidneys. The first symptoms, usually in the form of laxity and inhibition of psychomotor development, appear at the age of several months. The disease is rapidly progressive, there are neurological disorders (development regress, tremors, dystonia, ataxia, epileptic seizures), visual disturbances (nystagmus, optic nerve atrophy, RP, ophthalmoplegia), progressive hearing loss, muscle weakness and respiratory disorders, being the direct cause of death. Additional studies showed increased levels of lactate and pyruvate in plasma and cerebrospinal fluid. In CNS MRI, hyperdense changes within the basal ganglia, most often in the crust and caudate, are characteristic, including the pale globule. Changes in white matter are less frequently observed.
Source: Neuromuscular diseases; Czelej Publishing House