A case report of neuronal intranuclear inclusion disease with paroxysmal peripheral neuropathy-like onset lacking typical signs on diffusion-weighted imaging

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Abstract

Background

Neuronal intranuclear inclusion disease (NIID) is a slowly progressive neurodegenerative disease characterized by eosinophilic hyaline intranuclear inclusions and the GGC repeats in the 5'-untranslated region of NOTCH2NLC. The prevalent presence of high-intensity signal along the corticomedullary junction on diffusion-weighted imaging (DWI) helps to recognize this heterogeneous disease despite of highly variable clinical manifestations. However, patients without the typical sign on DWI are often misdiagnosed. Besides, there are no reports of NIID patients presenting with paroxysmal peripheral neuropathy-like onset to date.

Case presentation

We present a patient with NIID who suffered recurrent transient numbness in arms for 17 months. Magnetic resonance imaging (MRI) showed diffuse, bilateral white matter lesions without typical subcortical DWI signals. Electrophysiological studies revealed mixed demyelinating and axonal sensorimotor polyneuropathies involving four extremities. After excluding differential diagnosis of peripheral neuropathy through body fluid tests and a sural nerve biopsy, NIID was confirmed by a skin biopsy and the genetic analysis of NOTCH2NLC.

Conclusion

This case innovatively demonstrates that NIID could manifest as paroxysmal peripheral neuropathy-like onset, and addresses the electrophysiological characteristics of NIID in depth. We broaden the clinical spectrum of NIID and provide new insights into its differential diagnosis from the perspective of peripheral neuropathy.

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Most cited references 23

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Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease

Jun Sone, Satomi Mitsuhashi, Atsushi Fujita … (2019)

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Clinicopathological features of adult-onset neuronal intranuclear inclusion disease

Jun Sone, Keiko Mori, Tomonori Inagaki … (2016)

Neuronal intranuclear inclusion disease (NIID) has highly variable clinical manifestations. Sone et al. describe the clinical and pathological features of 57 adult-onset cases diagnosed by postmortem dissection/antemortem skin biopsy. They report ‘dementia dominant’ and ‘limb weakness’ subtypes, and recommend consideration of NIID in the differential diagnosis of leukoencephalopathy and neuropathy.

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

Huiting Liang, Bo Wang, Qing Li … (2020)

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.

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Author and article information

Contributors

Jiayu Fu: URI : http://loop.frontiersin.org/people/1194707/overview

Xiaoxuan Liu: URI : http://loop.frontiersin.org/people/575461/overview

Yingshuang Zhang: URI : http://loop.frontiersin.org/people/401816/overview

Shuo Zhang: URI : http://loop.frontiersin.org/people/1218281/overview

Xiao Huang: URI : http://loop.frontiersin.org/people/363677/overview

Shan Ye: URI : http://loop.frontiersin.org/people/1577068/overview

Dongsheng Fan: URI : http://loop.frontiersin.org/people/349254/overview

Journal

Journal ID (nlm-ta): Front Neurol

Journal ID (iso-abbrev): Front Neurol

Journal ID (publisher-id): Front. Neurol.

Title: Frontiers in Neurology

Publisher: Frontiers Media S.A.

ISSN (Electronic): 1664-2295

Publication date (Electronic): 10 February 2023

Publication date Collection: 2023

Volume: 14

Electronic Location Identifier: 1117243

Affiliations

[1] ¹Department of Neurology, Peking University Third Hospital , Beijing, China

[2] ²Beijing Municipal Key Laboratory of Biomarker and Translational Research in Neurodegenerative Diseases , Beijing, China

[3] ³Department of Pathology, Peking University Third Hospital , Beijing, China

Author notes

Edited by: Bruce Miller, University of California, San Francisco, United States

Reviewed by: Shunsuke Koga, Mayo Clinic Florida, United States; Bo Cui, Capital Medical University, China

*Correspondence: Dongsheng Fan ✉ dsfan2010@ 123456aliyun.com

This article was submitted to Dementia and Neurodegenerative Diseases, a section of the journal Frontiers in Neurology

†These authors have contributed equally to this work

Article

DOI: 10.3389/fneur.2023.1117243

PMC ID: 9950388

SO-VID: 39162feb-d9c5-4380-af07-0e6a3ee5ffb5

License:

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

History

Date received : 06 December 2022

Date accepted : 24 January 2023

Page count

Figures: 2, Tables: 1, Equations: 0, References: 23, Pages: 5, Words: 3493

Funding

Funded by: Peking University Third Hospital, doi 10.13039/501100009399;

Funded by: National Natural Science Foundation of China, doi 10.13039/501100001809;

This research was funded by the National Natural Science Foundation of China, grant numbers 81873784 and 82071426 and the Clinical Cohort Construction Program of Peking University Third Hospital, grant number BYSYDL2019002.

A case report of neuronal intranuclear inclusion disease with paroxysmal peripheral neuropathy-like onset lacking typical signs on diffusion-weighted imaging

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Abstract

Background

Case presentation

Conclusion

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Neuronal Signaling

Most cited references 23

Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease

Clinicopathological features of adult-onset neuronal intranuclear inclusion disease

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

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