Case Report
Copyright ©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
Typical imaging manifestation of neuronal intranuclear inclusion disease in a man with unsteady gait: A case report
Xue Gao, Zhi-Ding Shao, Lei Zhu
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
Processing time: 94 Days and 16.1 Hours
Abstract
BACKGROUND

Neuronal intranuclear inclusion disease (NIID) is a rare neurological degenerative disorder with diverse manifestations and inadequate awareness. Only a few cases of NIID have been reported, and typical imaging findings can provide certain clues for the diagnosis of the disease. Furthermore, skin biopsy and genetic testing are important to confirm the diagnosis.

CASE SUMMARY

An 84-year-old man presented to the Neurology Department of our hospital complaining of a progressive course of cognitive impairment and unsteady gait for 2 years. The symptoms gradually progressed and affected his daily life. The patient was initially diagnosed with Parkinson’s disease and vascular dementia. The patient did not respond to conventional treatment, such as dopasehydrazine. Therefore, magnetic resonance imaging (MRI) was performed. Based on the imaging findings, we suspected an NIID diagnosis. During the 3-year follow-up in our hospital, his clinical symptoms gradually progressed, and imaging findings became more significant. A high signal intensity along the corticomedullary junction persisted on MRI. Gene testing and skin biopsy were recommended in our hospital; however, the patient refused these procedures. NIID was also considered when he went to a superior hospital in Shanghai. The patient eventually agreed to undergo gene testing. This revealed abnormal GGC repeat expansions in the NOTCH2NLC gene.

CONCLUSION

The clinical manifestations of NIID are diverse. Patients with clinical manifestations similar to Parkinson’s disease and dementia may have NIID.

Keywords: Gait; Neuronal intranuclear inclusion disease; Magnetic resonance imaging; Biopsy; Genetics; Case report

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.