Anatomical and diffusion MRI of deep gray matter in pediatric spina bifida

Individuals with spina bifida myelomeningocele (SBM) exhibit brain abnormalities in cortical thickness, white matter integrity, and cerebellar structure. Little is known about deep gray matter macro- and microstructure in this population. The current study utilized volumetric and diffusion-weighted MRI techniques to examine gray matter volume and microstructure in several subcortical structures: basal ganglia nuclei, thalamus, hippocampus, and amygdala. Sixty-six children and adolescents (ages 8-18; M = 12.0, SD = 2.73) with SBM and typically developing (TD) controls underwent T1- and diffusion-weighted neuroimaging. Microstructural results indicated that hippocampal volume was disproportionately reduced, whereas the putamen volume was enlarged in the group with SBM. Microstructural analyses indicated increased mean diffusivity (MD) and fractional anisotropy (FA) in the gray matter of most examined structures (i.e., thalamus, caudate, hippocampus), with the putamen exhibiting a unique pattern of decreased MD and increased FA. These results provide further support that SBM differentially disrupts brain regions whereby some structures are volumetrically normal whereas others are reduced or enlarged. In the hippocampus, volumetric reduction coupled with increased MD may imply reduced cellular density and aberrant organization. Alternatively, the enlarged volume and significantly reduced MD in the putamen suggest increased density.