In vivo brain myo-inositol levels in children with Down syndrome

The Na+/myo-inositol cotransporter (SLC5A3) gene, located on the long arm o f human chromosome 21, may play a key role in osmoregulation including the regulation of levels of the "idiogenic osmole," myo-inositol, in brain cell s. To determine whether the levels of myo-inositol are increased in the bas al ganglia of children with Down syndrome, we performed in vivo brain hydro gen 1-nuclear magnetic resonance or H-1-magnetic resonance spectroscopy and measured plasma osmolality in a cohort of children with trisomy 21. Myo-in ositol is elevated in the corpus striatum of infants and children with Down syndrome, even in the absence of hypertonic stress.