Newly identified areas of involvement include the perirolandic cortices, hippocampi, optic pathways and olfactory nerves.<h4>Conclusion</h4>Lesions in the reticular formation and reticulospinal tracts on brain MRI in a neonate or infant with hepatic dysfunction may represent a distinctive, albeit not specific, feature of MPV17-related mitochondrial DNA depletion syndrome. Here, MPV17 is linked to mitochondrial DNA depletion syndrome.