Neuronal intranuclear inclusion disease with sudden visual impairment

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.