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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...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2019
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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 |
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author | Han, Xinsheng Han, Miao Liu, Ning Xu, Jianke Zhang, Yan Zhang, Yun Hong, Daojun Zhang, Wei |
author_facet | Han, Xinsheng Han, Miao Liu, Ning Xu, Jianke Zhang, Yan Zhang, Yun Hong, Daojun Zhang, Wei |
author_sort | Han, Xinsheng |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-6908888 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-69088882019-12-20 Adult‐onset neuronal intranuclear inclusion disease presenting with typical MRI changes Han, Xinsheng Han, Miao Liu, Ning Xu, Jianke Zhang, Yan Zhang, Yun Hong, Daojun Zhang, Wei Brain Behav Original Research 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. John Wiley and Sons Inc. 2019-11-20 /pmc/articles/PMC6908888/ /pubmed/31749292 http://dx.doi.org/10.1002/brb3.1477 Text en © 2019 The Authors. Brain and Behavior published by Wiley Periodicals, Inc. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Original Research Han, Xinsheng Han, Miao Liu, Ning Xu, Jianke Zhang, Yan Zhang, Yun Hong, Daojun Zhang, Wei Adult‐onset neuronal intranuclear inclusion disease presenting with typical MRI changes |
title | Adult‐onset neuronal intranuclear inclusion disease presenting with typical MRI changes |
title_full | Adult‐onset neuronal intranuclear inclusion disease presenting with typical MRI changes |
title_fullStr | Adult‐onset neuronal intranuclear inclusion disease presenting with typical MRI changes |
title_full_unstemmed | Adult‐onset neuronal intranuclear inclusion disease presenting with typical MRI changes |
title_short | Adult‐onset neuronal intranuclear inclusion disease presenting with typical MRI changes |
title_sort | adult‐onset neuronal intranuclear inclusion disease presenting with typical mri changes |
topic | Original Research |
url | 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 |
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