Leigh Syndrome is a rare neurodegenerative disorder associated with a hereditary disorder affecting mitochondrial energy production. It may be explained by a variety of mutations that affect oxidative phosphorylation, the pyruvate dehydrogenase complex or coenzyme Q10 metabolism.

Lake et al report that mutations in > 75 genes may be associated with the syndrome (see Figure 2 and Table 1).


Onset: usually during infancy or early childhood, but may have a late-onset


Clinical findings may include:

(1) developmental delay

(2) seizures

(3) nystagmus and/or ophthalmoparesis and/or optic atrophy

(4) ataxia

(5) dystonia, hypotonia and/or spasticity

(6) respiratory abnormalities including respiratory failure

(7) hypertrophic cardiomyopathy

(8) variable hepatic dysfunction

(9) variable renal tubular dysfunction

(10) variable gastrointestinal dysfunction


Laboratory findings may include:

(1) lactic acidosis

(2) hypoglycemia


MRI may show lesions in the basal ganglia and brainstem. Postmortem histologic examination of these areas show a necrotizing encephalopathy.

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