Neuronal intranuclear inclusion disease characterized by multiple stroke-like episodes and visual hallucinations: a case report and literature review

Abstract

Abstract Neuronal intranuclear inclusion disease (NIID) is a rare progressive neurodegenerative disease featured by eosinophilic intranuclear inclusions in the central nervous system and multiple systems of the body. For the reasons stated above, the clinical manifestation of NIID has high heterogeneity, such as dementia, parkinsonism, and psychiatric. Thus, in this report we describe a rare case of NIID characterized by multiple stroke episodes in China. A 79-year-old female was admitted to our hospital with multiple stroke-like episodes for seven years and visual hallucinations for a week. Magnetic resonance imaging (MRI) of the brain suggested chronic infarction in the right occipital lobe, multiple ischemic infarction lesions of bilateral half oval centers and radial crowns. However, the patient did not have risk factors for cerebrovascular disease, such as diabetes mellitus, hyperlipidemia, hypertension, and coronary heart disease. The stroke-like episodes of patient gradually improved after improving the circulations, providing the nerves nutrition and giving treatments aiming to patients’ current symptoms. Considering patient’s restorable stroke-like symptoms episode repeatedly without other neuro injured symptoms and diffusion weighted images (DWI) did not show new infarctions all the time, we observed her oromandibular dystonia and head tremor phenomenon additionally, as well as her reduced pupils (~ 1.5mm). We suggest the patient do a genetic testing for CGG repeat expansion of NOTCH2NLC showing a positive result. This case report highlights that the necessity of genetic testing in atypical NIID patients. Additionally, we reviewed previously reported cases of NIID, which will facilitate more accurate clinical diagnosis in the future and help us better understand the diagnostic flow of adult-onset NIID.