Leigh syndrome is a genetic neurometabolic disorder resulting from defects in mitochondrial energy production that most often presents in infancy or childhood. Symptoms may include failure to thrive, weakness/hypertonia, ataxia, oculomotor palsy, seizures, and episodes of lactic acidosis, among other features. The course of Leigh syndrome is usually relapsing, often in response to physiologic stress (ie, respiratory or gastrointestinal infections). The outcome is often fatal.
Nov. 25, 2018