Leigh's Syndrome
- AKA: subacute necrotizing encephalomyelopathy affecting:
- Brainstem, thalami, basal ganglia, cerebellum & cerebral white matter
- Bilateral subthalamic nuclei involvement is typical of SURF-1 deficient subtype of disease.
- Clinical signs: hypotonia, failure to thrive, developmental regression, ataxia & cranial nerves abnormalities
- Pathology: spongiform demyelination, neuropil vacuolation, capillary proliferation
- X-linked disorder involving several enzyme systems of mitochondrial energy production