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.
