Past investigations included brain MRI, EEG, karyotyping, subtelomere FISH, FISH for Smith-Magenis syndrome, TORCH serology, urine metabolic screen for amino acids, organic acids and mucopolysaccharides, galactose-1-phosphate uridyl transferase, 7-dehydrocholesterol and very long chain fatty acids; all were normal apart from a diffusely abnormal EEG. This evidence concerns the gene GALT and Smith-Magenis syndrome.