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©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Nov 26, 2022; 10(33): 12388-12394
Published online Nov 26, 2022. doi: 10.12998/wjcc.v10.i33.12388
Published online Nov 26, 2022. doi: 10.12998/wjcc.v10.i33.12388
Typical imaging manifestation of neuronal intranuclear inclusion disease in a man with unsteady gait: A case report
Xue Gao, Zhi-Ding Shao, Department of Neurology, The Second Affiliated Hospital of Wannan Medical College, Wuhu 241000, Anhui Province, China
Lei Zhu, Department of Neurology, Huainan First People’s Hospital Affiliated to Auhui University of Science and Technology, Huainan 232000, Anhui Province, China
Author contributions: Shao ZD contributed to the manuscript preparation and revision; Zhu L performed the analysis and corrections; Gao X reviewed the literature and drafted the manuscript; all authors have read and agreed to the published version of the manuscript.
Informed consent statement: The patient has signed informed consent.
Conflict-of-interest statement: All the authors declare that they have no conflicting interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Xue Gao, MM, Doctor, Department of Neurology, The Second Affiliated Hospital of Wannan Medical College, Kangfu Road, Wuhu 241000, Anhui Province, China. 1159760747@qq.com
Received: August 20, 2022
Peer-review started: August 20, 2022
First decision: October 12, 2022
Revised: October 25, 2022
Accepted: November 2, 2022
Article in press: November 2, 2022
Published online: November 26, 2022
Peer-review started: August 20, 2022
First decision: October 12, 2022
Revised: October 25, 2022
Accepted: November 2, 2022
Article in press: November 2, 2022
Published online: November 26, 2022
Core Tip
Core Tip: Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disease that has gradually gained recognition in recent years. We report a patient with typical NIID imaging findings of high signal intensity along the corticomedullary junction on magnetic resonance imaging. The main symptoms of NIID in older adults are a progressive course of cognitive impairment and unsteady walking. Gene testing indicated that GGC repeats were slightly expanded in the NOTCH2NLC gene. NIID was therefore suspected. Unfortunately, he refused a skin biopsy. Currently, the patient is being followed-up regularly in our outpatient clinic. We will continue to monitor the evolution of this patient.