A thin corpus callosum is a shared brain imaging feature of PDH deficiency and NKH (patients 1 and 2), but imaging findings typical of PDH deficiency and not seen in NKH deficiency (21,24,25,27) included a thalamic lesion (patient 2), hypoplastic corpus callosum with absence of splenium and rostrum (patient 3), subcortical white matter involvement (patient 3), and a stroke-like pattern with basal ganglia involvement (patient 1), which is a recently described destructive brain MRI presentation of PDH deficiency (27). Here, AMT is linked to pyruvate dehydrogenase E1-alpha deficiency.