Case of the Week
Section Editors: Matylda Machnowska1 and Anvita Pauranik2
1University of Toronto, Toronto, Ontario, Canada
2BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada
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May 26, 2008
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
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