Neuronal intranuclear inclusion disease with mental abnormality: a case report
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CASE REPORT
Open Access
Neuronal intranuclear inclusion disease with mental abnormality: a case report Xiaosa Chi1†, Man Li1†, Ting Huang2, Kangyong Tong1, Hongyi Xing1* and Jixiang Chen1*
Abstract Background: Neuronal intranuclear inclusion disease (NIID) is a chronic progressive neurodegenerative disease that is characterized by the discovery of eosinophilic hyaline intranuclear inclusions in the central and peripheral nervous systems and visceral organs. In this paper, we report a case of an adult-onset neuronal intranuclear inclusion disease presenting with mental abnormality in China. Case presentation: A 62-year-old woman presented with mental abnormality and forgetfulness for 3 months before she was admitted to our hospital. There were prodromal symptoms of fever before she had the mental disorder. Encephalitis was first suspected, and the patient underwent lumbar puncture and brain magnetic resonance imaging (MRI). A cerebrospinal fluid (CSF) examination indicated normal pressure, a normal white blood cell count, and slightly elevated protein and glucose levels. Coxsackie B virus, enterovirus, and cytomegalovirus tests showed normal results. Bacterial culture and Cryptococcus neoformans test results were negative. The contrastenhanced MRI of the brain was normal. The brain diffusion-weighted imaging (DWI) showed a symmetrically distributed strip-shaped hyperintensity signal of the corticomedullary junction in the bilateral frontal, parietal, and temporal lobes. We considered the diagnosis of the NIID, and therefore, skin biopsy was performed. The electron microscopy revealed that intranuclear inclusions in the nucleus of fibrocytes existed and were composed of filaments. Conclusions: NIID is a rare neurodegenerative disease with diverse clinical manifestations. In clinical work, when a patient presents with abnormal mental behavior and exhibits hyperintensity signals on DWI images of the corticomedullary junction, it is crucial to consider the diagnosis of NIID. Keywords: Neuronal intranuclear inclusion disease, Mental abnormality, Skin biopsy, Intranuclear inclusion
Background NIID is a rare progressive neurodegenerative disease characterized by eosinophilic hyaline intranuclear inclusions in the central nervous systems (CNS), peripheral cells of the autonomic nervous system, visceral organs, and the skin [1]. In 1968, the first case of NIID was reported by Lindenberg et al. [2]. NIID is pathologically characterized by the presence of ubiquitinated * Correspondence: [email protected]; [email protected] † Xiaosa Chi and Man Li contributed equally to this work. 1 Department of Neurology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China Full list of author information is available at the end of the article
intranuclear inclusions in the neurons [3]. It is difficult to identify the disease, as it has highly variable clinical manifestations, for example, dementia, abnormal behavior, muscle weakness, cerebellar ataxia, parkinsonism, epileptic sei
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