AUTHOR=Bu Julia Ting , Torres Dolores , Robinson Adam , Malone Corey , Vera Juan Carlos , Daghighi Shadi , Dunn-Pirio Anastasie , Khoromi Suzan , Nowell Justin , Léger Gabriel C. , Ciacci Joseph D. , Goodwill Vanessa S. , Estrella Melanie , Coughlin David G. , Guo Yueyang , Farid Nikdokht TITLE=Case report: Neuronal intranuclear inclusion disease presenting with acute encephalopathy JOURNAL=Frontiers in Neurology VOLUME=Volume 14 - 2023 YEAR=2023 URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2023.1184612 DOI=10.3389/fneur.2023.1184612 ISSN=1664-2295 ABSTRACT=

Neuronal intranuclear inclusion disease (NIID), a neurodegenerative disease previously thought to be rare, is increasingly recognized despite heterogeneous clinical presentations. NIID is pathologically characterized by ubiquitin and p-62 positive intranuclear eosinophilic inclusions that affect multiple organ systems, including the brain, skin, and other tissues. Although the diagnosis of NIID is challenging due to phenotypic heterogeneity, a greater understanding of the clinical and imaging presentations can improve accurate and early diagnosis. Here, we present three cases of pathologically proven adult-onset NIID, all presenting with episodes of acute encephalopathy with protracted workups and lengthy time between symptom onset and diagnosis. Case 1 highlights challenges in the diagnosis of NIID when MRI does not reveal classic abnormalities and provides a striking example of hyperperfusion in the setting of acute encephalopathy, as well as unique pathology with neuronal central chromatolysis, which has not been previously described. Case 2 highlights the progression of MRI findings associated with multiple NIID-related encephalopathic episodes over an extended time period, as well as the utility of skin biopsy for antemortem diagnosis.