Queston #14288Note

Leigh syndrome 
– a mitochondrial disease that presents in infancy with developmental regression, failure to thrive, and ataxia
– from time of diagnosis patients usually die within 2-3 years 
– MRI shows T2 hyperintensities in the basal ganglia (esp. putamen), cerebral peduncles, and periaqueductal grey 


Panthothenate kinase-associated neurodegeneration (PKAN) 
– MRI show hypointense lesions in the bilateral basal ganglia that have a central hyperintensities that represents gliosis on T2 FLAIR. This is called the “eye of the tiger sign”