MRI features of neuronal intranuclear inclusion disease, combining visual and quantitative imaging investigations - 01/10/23
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Abstract |
Objective |
To observe the radiological characteristics of Neuronal Intranuclear Inclusion Disease (NIID) on lesion locations and diffusion property using quantitative imaging analysis.
Methods |
Visual inspection and quantitative analyses were performed on MRI data from 31 retrospectively included patients with NIID. Frequency heatmaps of lesion locations on T2WI and DWI were generated using voxel-wise analysis. Gray matter volume (GMV), white matter volume (WMV) and diffusion property of apparent diffusion coefficient (ADC) values of patients were voxel-wisely compared with healthy controls. Moreover, the ADC values within the DWI-detected lesion were compared with those within the adjacent cortical gray matter and white matter. Voxel-based lesion symptom mapping (VLSM) techniques, were used to determine the relationship between DWI lesion location and disease durations.
Results |
By visual inspection on the imaging findings, we proposed an “cockscomb flower sign” for describing the radiological feature of DWI hyperintensity within the corticomedullary junction. A “T2WI-DWI mismatch of spatial distribution” pattern was also revealed with visual inspection and frequency heatmaps, for describing the feature of a wider lesion distribution covering white matter shown on T2WI than that on DWI. Voxel-based morphometry comparison revealed that wildly reduced GMV and WMV, both the lesion areas detected by DWI and T2WI demonstrated ADC increase in patients. Furthermore, the ADC values within the DWI-detected lesion were intermediate between the adjacent cortex and the deep white matter with highest ADC. VLSM analysis revealed that frontal lobe, parietal lobe and internal capsule damage were associated with higher NIID durations.
Conclusion |
NIID features with “cockscomb flower-like” DWI hyperintensity in area of corticomedullary junction, based on a “T2WI-DWI mismatch of spatial distribution” of lesion locations. The pathological substrate of corticomedullary junction hyperintensity on DWI, can not be explained as diffusion restriction. These typical radiological features of brain MRI would be helpful for diagnosis of NIID.
Le texte complet de cet article est disponible en PDF.Graphical abstract |
Highlight |
• | “Cockscomb flower-like” DWI hyperintensity within the corticomedullary junction was proposed for radiological diagnosis of NIID. |
• | Imaging feature of lesion distribution “DWI-T2WI mismatch of spatial distribution” in NIID was proposed by visual and voxel-based analysis. |
• | ROI- and voxel-base analysis of ADC values revealed that both regions of DWI- and T2WI-detected lesions might be vasogenic edema in pathological substrate. |
Key words : Neuronal intranuclear inclusion disease, Magnetic resonance imaging, Diffusion weighted image, Lesion frequency heatmaps, Quantification analysis
Abbreviations : NIID, DWI, GMV, WMV, ADC, ROI, TR, TE, MNI, FXTAS
Plan
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