Leigh Syndrome 

History: 19-month-old girl with hypotonia, developmental 

delay, failure to thrive, and bilateral optic disc pallor 

 • Mitochondrial disorder with progressive neurodeneration 

 • Imaging findings can show bilateral & symmetric T2 hyperintensity in the corpora striata, thalami, substantia nigra, subthalamic nuclei, pons 

 • DWI+ in acute disease 

 • +/- lactate elevation (can be absent 50% of the time) 

 • Several different biochemical & genetic abnormalities implicated that yield various imaging patterns (this case was a complex I deficiency with MTND mutation)



Dr. Mark Mamlouk @ https://twitter.com/MarkMamloukMD



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