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 #Leigh #Syndrome #Clinical #MRI #Brain #Diagnosis #Radiology
