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MRI features of neuronal intranuclear inclusion disease, combining visual and quantitative imaging investigations
Zixuan Zhang1, Qiang Xu2, Jianrui Li2
1Department of Diagnostic Radiology, Jinling Hospital, Nanjing University School of Medicine, Nanjing 210002, China; School of Medical Imaging, Xuzhou Medical University, Xuzhou 221004, China.
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.
Insights
Neuronal Intranuclear Inclusion Disease (NIID) shows a "cockscomb flower sign" on MRI, with lesions wider on T2WI than DWI. This pattern aids in diagnosing NIID, distinguishing it from diffusion restriction.
Area of Science:
- Neuroimaging
- Neuropathology
- Radiology
Background:
- Neuronal Intranuclear Inclusion Disease (NIID) is a rare neurodegenerative disorder.
- Accurate radiological characterization is crucial for early diagnosis and management.
- Quantitative imaging analysis can provide objective measures of disease burden.
Purpose of the Study:
- To characterize the radiological features of NIID using quantitative MRI analysis.
- To investigate lesion locations and diffusion properties in NIID patients.
- To correlate imaging findings with clinical disease duration.
Main Methods:
- Retrospective analysis of MRI data from 31 NIID patients.
- Voxel-wise analysis of T2WI and DWI to generate lesion location heatmaps.
- Comparison of gray matter volume (GMV), white matter volume (WMV), and apparent diffusion coefficient (ADC) values with healthy controls.
- Voxel-based lesion symptom mapping (VLSM) to link lesion location and disease duration.
Main Results:
- Identified a "cockscomb flower sign" of DWI hyperintensity at the corticomedullary junction.
- Observed a "T2WI-DWI mismatch" pattern, with T2WI showing wider lesion distribution than DWI.
- Found reduced GMV and WMV, and increased ADC values in NIID lesions.
- VLSM indicated association between frontal lobe, parietal lobe, and internal capsule lesions with longer disease duration.
Conclusions:
- NIID exhibits characteristic "cockscomb flower-like" DWI hyperintensity and a "T2WI-DWI mismatch" pattern.
- Corticomedullary junction hyperintensity on DWI is not explained by diffusion restriction.
- These MRI findings are valuable for diagnosing NIID.
