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Case Reports
. 2019 Dec;9(12):e01477.
doi: 10.1002/brb3.1477. Epub 2019 Nov 20.

Adult-onset neuronal intranuclear inclusion disease presenting with typical MRI changes

Xinsheng Han  1 , Miao Han  1 , Ning Liu  1 , Jianke Xu  1 , Yan Zhang  1 , Yun Zhang  1 , Daojun Hong  2 , Wei Zhang  3
Affiliations
Case Reports

Adult-onset neuronal intranuclear inclusion disease presenting with typical MRI changes

Xinsheng Han et al. Brain Behav. 2019 Dec.

Abstract

Background: This study aims to analyze the clinical, imaging, electrophysiological, and dermatopathological features of a patient with adult-onset neuronal intranuclear inclusion disease (NIID) and to explore the diagnostic methods of adult-onset NIID.

Case presentation: We here report a 63-year-old male with recurrent acute encephalopathy syndrome and autonomic nervous system damage syndrome characterized by sexual dysfunction and urinary and fecal dysfunction. Cranial diffusion-weighted magnetic resonance imaging (DWI) demonstrated symmetrically distributed strip-shaped high-intensity signal in bilateral fronto-occipital-parietal cortical-medullary junction. Electrophysiological test revealed that the main site of injury was myelin sheath in both motor and sensory nerves. Skin biopsy revealed eosinophilic spherical inclusion bodies in the nucleus of sweat gland epithelial cells.

Conclusion: This case suggests that adult NIID is a chronic neurodegenerative disease with high clinical heterogeneity. Subcortical strip-shaped high-intensity signal on DWI has high diagnostic significance. Eosinophilic intranuclear inclusion bodies detected by skin biopsy contribute to diagnosis.

Keywords: acute encephalopathy syndrome; magnetic resonance imaging; neuronal intranuclear inclusion disease.

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Conflict of interest statement

The authors have declared no conflicts of interest.

Figures

Figure 1
Figure 1
Diffusion‐weighted magnetic resonance imaging reveals symmetrically distributed strip‐shaped isointense signal in bilateral fronto‐occipital‐parietal cortical‐medullary junction, with nodular hyperintense signal in the right paraventricular white matter. The corresponding lesions in the cortical‐medullary junction showed isointense or slightly hyperintense signals on ADC sequence, and the corresponding lesions in the paraventricular region exhibited hypointense signal on ADC sequence. Multiple patchy hyperintense signals in bilateral paraventricular region, corona radiata, and semioval center were displayed on T2. The corresponding lesions showed hypointense signals on T1 sequence and hyperintense signals on Flair sequence
Figure 2
Figure 2
(a) Eosinophilic globular inclusion bodies (arrows) in the nucleus of sweat gland epithelial cells revealed by hematoxylin–eosin staining under the light microscope; (b) inclusion bodies (arrows) were positive for p62 measured by immunohistochemical staining
Figure 3
Figure 3
Spherical inclusion bodies composed of fibrous substances without membranes in the nucleus of sweat gland epithelial cells under the electron microscope
See this image and copyright information in PMC

References

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