Work

Neuronal intranuclear inclusion disease with sudden visual impairment

Year: 2025

Type: article

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.

Source: Journal of Neurorestoratology

DOI: 10.1016/j.jnrt.2025.100193

Authors: Lili Liu, Juanjuan Chen, Zhijian Lin, Jun Hu, Yunong Li, Fenli Zhou

Institution: Peking University Shenzhen Hospital

Language: English

Topic: Genetic Neurodegenerative Diseases

Subfield: Cellular and Molecular Neuroscience

Field: Neuroscience

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,700