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Case Report | Open Access

Neuronal intranuclear inclusion disease with sudden visual impairment

Lili Liu1, Juanjuan Chen1, Zhijian Lin, Jun Hu, Yunong Li( ), Fenli Zhou( )
Department of Neurology, Peking University Shenzhen Hospital, Shenzhen 518036, Guangdong, China

1 Lili Liu and Juanjuan Chen have contributed equally to this work.

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Abstract

Here we report a case of a 67-year-old female patient who presented with headache, limb tremors, and acute complete vision loss. Physical examination revealed bilateral miosis, and diffusion-weighted imaging sequences showed mild diffusion restriction in the subcortical regions of both occipital lobes. Genetic results revealed 85 GGC repeats in the 5′-untranslated region of the NOTCH2NLC gene. The therapeutic effect of dexamethasone and acyclovir was minimal. NIID must be considered in patients with acute onset and various clinical manifestations and imaging findings similar to encephalitis. We hope that our case presentation will enhance clinicians’ awareness of NIID.

Keywords

Neuronal intranuclear inclusion diseaseVision lossDiagnosisNOTCH2NLCDiffusion-weighted image

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Journal of Neurorestoratology
Volume 13 Issue 3,
June 2025
DOI: 10.1016/j.jnrt.2025.100193
Cite this article:
Liu L, Chen J, Lin Z, et al. Neuronal intranuclear inclusion disease with sudden visual impairment. Journal of Neurorestoratology, 2025, 13(3). https://doi.org/10.1016/j.jnrt.2025.100193

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Received: 01 September 2024
Revised: 06 December 2024
Accepted: 18 January 2025
Published: 01 June 2025
© 2025 The Author(s).

This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
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