Reported findings on brain MRI in ADSL deficiency include atrophy of the cerebral cortex, corpus callosum, cerebellar vermis (Van den Berghe et al 1997; Edery et al 2003; Jurecka et al 2012a, b), lack of myelination (Kohler et al 1999; Jurecka et al 2012a, b), delayed myelination (Jurkiewicz et al 2007; Lundy et al 2010; Jurecka et al 2012a, b), anomalies of the white matter (Valik et al 1997; Nassogne et al 2000; Edery et al 2003; Marinaki et al 2004; Lundy et al 2010) and lissencephaly (Stathis et al 2000) (Figs. 2, 3 and 4). This evidence concerns the gene ADSL and Lissencephaly.