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

Jiayu Fu; Chen Zhao; Guanghao Hou; Xiaoxuan Liu; Mei Zheng; Yingshuang Zhang; Shuo Zhang; Danfeng Zheng; Yixuan Zhang; Xiao Huang; Shan Ye; Dongsheng Fan

doi:10.3389/fneur.2023.1117243

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

Front Neurol. 2023 Feb 10:14:1117243. doi: 10.3389/fneur.2023.1117243. eCollection 2023.

Authors

Jiayu Fu^{1

2}, Chen Zhao^{1

2}, Guanghao Hou^{1

2}, Xiaoxuan Liu^{1

2}, Mei Zheng^{1

2}, Yingshuang Zhang^{1

2}, Shuo Zhang^{1

2}, Danfeng Zheng³, Yixuan Zhang^{1

2}, Xiao Huang^{1

2}, Shan Ye^{1

2}, Dongsheng Fan^{1

2}

Affiliations

¹ Department of Neurology, Peking University Third Hospital, Beijing, China.
² Beijing Municipal Key Laboratory of Biomarker and Translational Research in Neurodegenerative Diseases, Beijing, China.
³ Department of Pathology, Peking University Third Hospital, Beijing, China.

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.

Keywords: NOTCH2NLC gene; neurodegenerative disease; neuronal intranuclear inclusion disease; peripheral neuropathy; skin biopsy.

Publication types

Case Reports

Grants and funding

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.