Leigh Syndrome: An early-onset
progressive neurodegenerative disorder with a characteristic neuropathology
consisting of focal, bilateral lesions in one or more areas of the central
nervous system, including the brain stem, thalamus, basal ganglia,
cerebellum, and spinal cord. The lesions are areas of demyelination,
gliosis, necrosis, spongiosis, or capillary proliferation. Clinical symptoms
depend on which areas of the CNS are involved. The most common underlying
cause is a defect in oxidative phosphorylation. Other clinical features
include lesions of the optic nerve, heart, and breathing system. Symptoms
during infancy include failure to thrive, tremors, and skin changes. It is
suggested that it is inherited as an autosomal recessive trait.