Enlarged basal cisterns and Sylvian fissuresGlutaryl-CoA dehydrogenase deficiency [24]Brain atrophyGLUT1 deficiency [95]a-ketoglutarate dehydrogenase deficiency [27]Dihydrolipoamide dehydrogenase deficiency [28]Niemann-Pick C disease [53]Iduronate sulfatase deficiency (Mucopolysaccharidosis type 2) [54]Neuronal Ceroid Lipofuscinosis [58]Biotinidase deficiency [27]GABA transaminase deficiency [70]FBXL4 deficiency [74]Mitochondrial NAD kinase 2 deficiency [75]Phosphatidylserine flippase deficiency [77]. This evidence concerns the gene FBXL4 and mucopolysaccharidosis type 2.