Spina bifida cystica (SBC) is a group of neurodevelopmental defects caused by improper neural tube closure, which may be responsible for deficits in cognitive functions. The purpose of this study was to examine changes in normal appearing deep gray and white matter brain regions in SBC patients compared with controls through diffusion tensor imaging (DTI) and correlate these changes with neuropsychometric tests.

Conventional magnetic resonance imaging and neuropsychometric tests were performed on 13 patients and ten controls. DTI-derived fractional anisotropy (FA) and mean diffusivity (MD) were quantified in different brain regions in controls and patients.

Significantly decreased FA was observed in caudate nuclei, putamen, genu, splenium, and increased FA was found in middle cerebellar peduncle (MCP) in patients compared with controls. We observed significantly increased MD in genu and splenium. However, increased MD was found in fornix of patients compared with controls. Majority of neuropsychological tests were found to be significantly impaired and some of these showed significant correlation with DTI metrics in genu, splenium, and MCP in these patients.

We conclude that DTI metrics are significantly abnormal in deep gray matter nuclei, genu, splenium, and MCP in SBC patients and may provide microstructural basis for neuropsychological abnormalities in these patients.