Brain imaging studies in these groups are limited to a few case reports, and we were unable to find any published data on females with tetrasomy or pentasomy X. A young 49,XXXXY male who had significant developmental delays and began to have generalized tonic-clonic seizures at approximately age 6 underwent an MRI when he was 12 years old. It showed enlarged ventricles, particularly in the occipital horn of the left hemisphere, and generalized cortical atrophy, again most severe on the left [Galasso et al., 2003]. MRI results from a 4-year-old boy also showed global volume loss and scattered areas of white matter hyperintensity. A 3-year-old male with a history of speech and motor delays was found to have enlarged ventricles, general decreased volume of the cerebral cortex, and hypoplasia of the corpus callosum [Haeusler et al., 1992]. A T2-weighted and FLAIR image from a 1-year-old 49,XXXXY male showed extensive white matter hyperintensities [Garcia-Cazorla et al., 2004].
