Case Report: Neuronal Intranuclear Inclusion Disease With Oromandibular Dystonia Onset
Background: Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disease. Because of variable clinical manifestations, NIID was often misdiagnosed. According to published case reports, the common clinical manifestations of NIID include dementia, muscle weakness, autonomic impai...
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Frontiers Media S.A.
2021-02-01
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| Series: | Frontiers in Neurology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fneur.2021.618595/full |
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| author | Wei-Ping Deng Zhao Yang Xiao-Jun Huang Jing-Wen Jiang Xing-Hua Luan Xing-Hua Luan Li Cao Li Cao |
| author_facet | Wei-Ping Deng Zhao Yang Xiao-Jun Huang Jing-Wen Jiang Xing-Hua Luan Xing-Hua Luan Li Cao Li Cao |
| author_sort | Wei-Ping Deng |
| collection | DOAJ |
| description | Background: Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disease. Because of variable clinical manifestations, NIID was often misdiagnosed. According to published case reports, the common clinical manifestations of NIID include dementia, muscle weakness, autonomic impairment, sensory disturbance, rigidity, ataxia convulsions, etc. However, no cases of oromandibular dystonia were mentioned.Case Presentation: We describe a case of a 58-year-old woman presenting with mouth involuntary chewing initially. She started to show hand tremors, ataxia, and walking instability until 2 years later. Diffusion-weighted imaging showed high intensity signal along the corticomedullary junction. Fluid-attenuated inversion recovery imaging showed white matter hyperintensity. Electromyography (EMG) indicated peripheral nerve degeneration. Neuropsychological testing showed memory loss. Finally, skin biopsy and GGC repeat expansions in the NOTCH2NLC (Notch 2 N-terminal like C) gene confirmed the diagnosis of NIID.Conclusion: This case demonstrated that oromandibular dystonia could be the first symptom of NIID. This case report provides new characteristics of NIID and broadens its clinical spectrum. |
| first_indexed | 2024-12-14T12:10:57Z |
| format | Article |
| id | doaj.art-6eb35e19b28e47ff9a2b95e63a056258 |
| institution | Directory Open Access Journal |
| issn | 1664-2295 |
| language | English |
| last_indexed | 2024-12-14T12:10:57Z |
| publishDate | 2021-02-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Neurology |
| spelling | doaj.art-6eb35e19b28e47ff9a2b95e63a0562582022-12-21T23:01:45ZengFrontiers Media S.A.Frontiers in Neurology1664-22952021-02-011210.3389/fneur.2021.618595618595Case Report: Neuronal Intranuclear Inclusion Disease With Oromandibular Dystonia OnsetWei-Ping Deng0Zhao Yang1Xiao-Jun Huang2Jing-Wen Jiang3Xing-Hua Luan4Xing-Hua Luan5Li Cao6Li Cao7Department of Neurology, Rui Jin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, ChinaDepartment of Neurology, Rui Jin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, ChinaDepartment of Neurology, Rui Jin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, ChinaDepartment of Neurology, Rui Jin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, ChinaDepartment of Neurology, Rui Jin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, ChinaDepartment of Neurology, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, ChinaDepartment of Neurology, Rui Jin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, ChinaDepartment of Neurology, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, ChinaBackground: Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disease. Because of variable clinical manifestations, NIID was often misdiagnosed. According to published case reports, the common clinical manifestations of NIID include dementia, muscle weakness, autonomic impairment, sensory disturbance, rigidity, ataxia convulsions, etc. However, no cases of oromandibular dystonia were mentioned.Case Presentation: We describe a case of a 58-year-old woman presenting with mouth involuntary chewing initially. She started to show hand tremors, ataxia, and walking instability until 2 years later. Diffusion-weighted imaging showed high intensity signal along the corticomedullary junction. Fluid-attenuated inversion recovery imaging showed white matter hyperintensity. Electromyography (EMG) indicated peripheral nerve degeneration. Neuropsychological testing showed memory loss. Finally, skin biopsy and GGC repeat expansions in the NOTCH2NLC (Notch 2 N-terminal like C) gene confirmed the diagnosis of NIID.Conclusion: This case demonstrated that oromandibular dystonia could be the first symptom of NIID. This case report provides new characteristics of NIID and broadens its clinical spectrum.https://www.frontiersin.org/articles/10.3389/fneur.2021.618595/fullneuronal intranuclear inclusion diseaseoromandibular dystoniaskin biopsyNOTCH2NLC geneclinical manifestations |
| spellingShingle | Wei-Ping Deng Zhao Yang Xiao-Jun Huang Jing-Wen Jiang Xing-Hua Luan Xing-Hua Luan Li Cao Li Cao Case Report: Neuronal Intranuclear Inclusion Disease With Oromandibular Dystonia Onset Frontiers in Neurology neuronal intranuclear inclusion disease oromandibular dystonia skin biopsy NOTCH2NLC gene clinical manifestations |
| title | Case Report: Neuronal Intranuclear Inclusion Disease With Oromandibular Dystonia Onset |
| title_full | Case Report: Neuronal Intranuclear Inclusion Disease With Oromandibular Dystonia Onset |
| title_fullStr | Case Report: Neuronal Intranuclear Inclusion Disease With Oromandibular Dystonia Onset |
| title_full_unstemmed | Case Report: Neuronal Intranuclear Inclusion Disease With Oromandibular Dystonia Onset |
| title_short | Case Report: Neuronal Intranuclear Inclusion Disease With Oromandibular Dystonia Onset |
| title_sort | case report neuronal intranuclear inclusion disease with oromandibular dystonia onset |
| topic | neuronal intranuclear inclusion disease oromandibular dystonia skin biopsy NOTCH2NLC gene clinical manifestations |
| url | https://www.frontiersin.org/articles/10.3389/fneur.2021.618595/full |
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