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Adult‐onset neuronal intranuclear inclusion disease presenting with typical MRI changes

BACKGROUND: This study aims to analyze the clinical, imaging, electrophysiological, and dermatopathological features of a patient with adult‐onset neuronal intranuclear inclusion disease (NIID) and to explore the diagnostic methods of adult‐onset NIID. CASE PRESENTATION: We here report a 63‐year‐old...

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Detalles Bibliográficos
Autores principales: Han, Xinsheng, Han, Miao, Liu, Ning, Xu, Jianke, Zhang, Yan, Zhang, Yun, Hong, Daojun, Zhang, Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6908888/
https://www.ncbi.nlm.nih.gov/pubmed/31749292
http://dx.doi.org/10.1002/brb3.1477
Descripción
Sumario:BACKGROUND: This study aims to analyze the clinical, imaging, electrophysiological, and dermatopathological features of a patient with adult‐onset neuronal intranuclear inclusion disease (NIID) and to explore the diagnostic methods of adult‐onset NIID. CASE PRESENTATION: We here report a 63‐year‐old male with recurrent acute encephalopathy syndrome and autonomic nervous system damage syndrome characterized by sexual dysfunction and urinary and fecal dysfunction. Cranial diffusion‐weighted magnetic resonance imaging (DWI) demonstrated symmetrically distributed strip‐shaped high‐intensity signal in bilateral fronto‐occipital‐parietal cortical‐medullary junction. Electrophysiological test revealed that the main site of injury was myelin sheath in both motor and sensory nerves. Skin biopsy revealed eosinophilic spherical inclusion bodies in the nucleus of sweat gland epithelial cells. CONCLUSION: This case suggests that adult NIID is a chronic neurodegenerative disease with high clinical heterogeneity. Subcortical strip‐shaped high‐intensity signal on DWI has high diagnostic significance. Eosinophilic intranuclear inclusion bodies detected by skin biopsy contribute to diagnosis.