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01-11-2020 | Magnetic Resonance Imaging | Original Communication

Clinical and pathological features in adult-onset NIID patients with cortical enhancement

Authors: Huiting Liang, Bo Wang, Qing Li, Jianwen Deng, Lulu Wang, Huan Wang, Xiaobin Li, Min Zhu, Yu Cai, Zhaoxia Wang, Yun Yuan, Pu Fang, Daojun Hong

Published in: Journal of Neurology | Issue 11/2020

Abstract

Background

Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disease characterized by eosinophilic hyaline intranuclear inclusions in multiple organs. On conventional MRI, high signals on diffused weight image (DWI) along the corticomedullary junction have demonstrated great diagnostic values for adult-onset NIID. However, changes of contrast MRI in the acute period of the encephalopathy-like episode have rarely been investigated.

Methods

Patients with enhanced lesions were retrieved in our database including 35 patients with adult-onset NIID between October 2017 and December 2019. Conventional and contrast MRI were conducted in all patients. Standard procedures of skin biopsy were performed in all patients. Repeat-primed PCR and amplicon length PCR were used to screen the GGC expansion in the 5′UTR of the NOTCH2NLC gene.

Results

Four of 35 patients (11.4%) were identified to have a cortical enhancement in this study. The enhanced lesions were selectively spread along the surface of posterior cortex and were clinically associated with encephalopathy-like episodes. These patients had a younger age of onset, shorter duration of disease, and a higher incidence of a headache than those without enhancement. Typical p62-postive intranuclear inclusions were observed in all patients, while patient 1 simultaneously had many nuclei full of abnormal substance immunopositive to p62, as well as short-curly filament materials on electron microscopy. All patients were identified to have GGC repeat expansion in the NOTCH2NLC gene.

Conclusion

Post-contrast MRI should be routinely performed in the adult-onset NIID patients. Some patients with adult-onset NIID showed cortical enhancement and edema along the surface of posterior cortex, indicating that dehydrate and anti-inflammatory drugs might be potential therapies for these patients.

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Title: Clinical and pathological features in adult-onset NIID patients with cortical enhancement
Authors: Huiting Liang
Bo Wang
Qing Li
Jianwen Deng
Lulu Wang
Huan Wang
Xiaobin Li
Min Zhu
Yu Cai
Zhaoxia Wang
Yun Yuan
Pu Fang
Daojun Hong
Publication date: 01-11-2020
Publisher: Springer Berlin Heidelberg
Keywords: Magnetic Resonance Imaging
Magnetic Resonance Imaging
Migraine
Edema
Headache
Encephalopathy
Published in: Journal of Neurology / Issue 11/2020
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-020-09945-7

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Clinical and pathological features in adult-onset NIID patients with cortical enhancement

Abstract

Background

Methods

Results

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Methods

Results

Conclusion

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