Magnetic resonance imaging and diffusion-weighted imaging of normal-appearing white matter in children and young adults with tuberous sclerosis complex

Abstract

ADC values of NAWM appear increased in TSC patients. The abnormal ADC values suggest that myelination may be delayed/impaired in TSC patients, which could explain global neurocognitive deficits. Larger prospective studies, including diffusion tensor imaging, are necessary to validate our results.

Cytoarchitectural alterations are widespread in cerebral cortex in tuberous sclerosis complex

“…In a prior analysis, postmortem MRI brain analysis revealed extensive white matter abnormalities [17]. Our findings of structural abnormalities in subcortical white matter in the postmortem TSC brains in areas distinct from tubers amplify the previous radiographic results [1,19,20] and pathological analyses [3] demonstrating widespread white matter abnormalities in limited samples of TSC patients.…”

“…These observations have raised the possibility that histopathological features of TSC may not be confined to cortical tubers and may include distinct or more subtle morphological changes. For example, MRI-based analyses have demonstrated volume loss in the subcortical gray matter structures such as the thalamus, basal ganglia, and cerebellum, and white matter deficits bilaterally in intrahemispheric tracts that correlated with deficits in executive working memory white matter of TSC patients [1,19,20]. Small microscopic changes have been previously described in TSC as subcortical nodules or white matter heterotopia [22] although a comprehensive postmortem analysis of TSC cortex and white matter has not been reported.…”

Cerebral Diffusion Tensor MR Tractography in Tuberous Sclerosis Complex: Correlation with Neurologic Severity and Tract-Based Spatial Statistical Analysis

“…14 Investigators have also studied the relationship between the diffusion characteristics of the white matter and the neurologic severity of patients with tuberous sclerosis complex but found no significant association. 15 Previous quantitative DWI and DTI studies of tuberous sclerosis complex largely involved manually counting and measuring individual brain lesions including cortical tubers, transmantle white matter lesions, and subependymal nodules. 12,13,16 Because larger tuber volume was correlated with more severe DTI change of white matter tracts, 16 studying the white matter therefore may be a reasonable way to assess the load of brain abnormality in tuberous sclerosis complex.…”

Diffusion Tensor Imaging of Commissural and Projection White Matter in Tuberous Sclerosis Complex and Correlation with Tuber Load

“…Diffuse hypomyelination of the cerebral white matter was thought to occur in TSC patients. 9,10,23 The white matter microstructural changes in NAWM in TSC patients may be related to an abnormal myelin packing due to giant cells, gliosis, and myelination defects. 10 Using ex vivo postmortem MR imaging and neuropathologic examination, Boer et al 24 reported that all areas of T2 high signal intensity on MR imaging were found to correspond with areas of demyelination.…”

“…[6][7][8] Recently, abnormalities in the NAWM have been reported by using DWI and DTI. 9,10 However, it is uncertain if the changes in the NAWM are related to tuber load. Cortical tubers are a type of malformation of cortical development, 11 and malformations affecting the cortex could affect the white matter as well.…”