A case report of neuronal intranuclear inclusion disease and literature review
Abstract Neuronal intranuclear inclusion disease (NIID) is a rare progressive neurodegenerative disease with a characteristic pathological feature of eosinophilic hyaluronan inclusions in the nervous system and internal organs. The identification of GGC-repeat expansions in the Notch 2 N-terminal li...
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2024-12-01
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| author | Jie Li Guogao Zhang Jianrong Zheng Jun Hu Yunong Li |
| author_facet | Jie Li Guogao Zhang Jianrong Zheng Jun Hu Yunong Li |
| author_sort | Jie Li |
| collection | DOAJ |
| description | Abstract Neuronal intranuclear inclusion disease (NIID) is a rare progressive neurodegenerative disease with a characteristic pathological feature of eosinophilic hyaluronan inclusions in the nervous system and internal organs. The identification of GGC-repeat expansions in the Notch 2 N-terminal like C (NOTCH2NLC) gene facilitates the accurate diagnosis of NIID. Due to its rareness and high clinical heterogeneity, the diagnosis of NIID is often delayed or missed. Here, we report a case of NIID mimicking autoimmune encephalitis. A 55-year-old Chinese man presented with fever, headache, recurrent seizures, and weakness in the upper and lower left limbs. Brain MRI revealed diffuse T2/ FLAIR-hyperintense lesions in the bilateral basal ganglia, corpus callosum, and periventricular white matter, with swelling of the right temporal, frontal, and parietal cortices accompanied by meningeal enhancement. Abnormally high signal lesions were observed in the corticomedullary junction in diffusion-weighted imaging (DWI). The infectious or autoimmune disease screening of central nervous system using CSF was normal. The test of GGC-repeat expansion in the NOTCH2NLC gene by capillary electrophoresis indicated GGC repeats (48 and 110 GGC repeats), which supported the diagnosis of NIID. After treatment with glucocorticoid, the clinical symptoms of this patient improved significantly. In the literature, 12 cases of NIID presenting with encephalitis-like attacks were identified, most of which were recurrent, accompanied by progressive symptoms such as dementia, Parkinsonism symptoms, migraine, or dysuria. In this case, there was a single encephalitis-like episode without other progressive symptoms. In patients with encephalitis-like symptoms, NIID should be considered, especially when no other evidence of infection is found, as demonstrated in this case. In addition, long-term monitoring of disease progression is also very important. |
| format | Article |
| id | doaj-art-8a6e7de199f346e193a6015f3dab6ccf |
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| language | English |
| publishDate | 2024-12-01 |
| publisher | BMC |
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| series | BMC Neurology |
| spelling | doaj-art-8a6e7de199f346e193a6015f3dab6ccf2025-08-20T01:57:16ZengBMCBMC Neurology1471-23772024-12-0124111110.1186/s12883-024-03997-2A case report of neuronal intranuclear inclusion disease and literature reviewJie Li0Guogao Zhang1Jianrong Zheng2Jun Hu3Yunong Li4Department of Neurology, Peking University Shenzhen HospitalDepartment of Neurology, Peking University Shenzhen HospitalDepartment of Neurology, Peking University Shenzhen HospitalDepartment of Neurology, Peking University Shenzhen HospitalDepartment of Neurology, Peking University Shenzhen HospitalAbstract Neuronal intranuclear inclusion disease (NIID) is a rare progressive neurodegenerative disease with a characteristic pathological feature of eosinophilic hyaluronan inclusions in the nervous system and internal organs. The identification of GGC-repeat expansions in the Notch 2 N-terminal like C (NOTCH2NLC) gene facilitates the accurate diagnosis of NIID. Due to its rareness and high clinical heterogeneity, the diagnosis of NIID is often delayed or missed. Here, we report a case of NIID mimicking autoimmune encephalitis. A 55-year-old Chinese man presented with fever, headache, recurrent seizures, and weakness in the upper and lower left limbs. Brain MRI revealed diffuse T2/ FLAIR-hyperintense lesions in the bilateral basal ganglia, corpus callosum, and periventricular white matter, with swelling of the right temporal, frontal, and parietal cortices accompanied by meningeal enhancement. Abnormally high signal lesions were observed in the corticomedullary junction in diffusion-weighted imaging (DWI). The infectious or autoimmune disease screening of central nervous system using CSF was normal. The test of GGC-repeat expansion in the NOTCH2NLC gene by capillary electrophoresis indicated GGC repeats (48 and 110 GGC repeats), which supported the diagnosis of NIID. After treatment with glucocorticoid, the clinical symptoms of this patient improved significantly. In the literature, 12 cases of NIID presenting with encephalitis-like attacks were identified, most of which were recurrent, accompanied by progressive symptoms such as dementia, Parkinsonism symptoms, migraine, or dysuria. In this case, there was a single encephalitis-like episode without other progressive symptoms. In patients with encephalitis-like symptoms, NIID should be considered, especially when no other evidence of infection is found, as demonstrated in this case. In addition, long-term monitoring of disease progression is also very important.https://doi.org/10.1186/s12883-024-03997-2Neuronal intranuclear inclusion diseaseAutoimmune encephalitisNOTCH2NLC geneNeurodegenerative disease |
| spellingShingle | Jie Li Guogao Zhang Jianrong Zheng Jun Hu Yunong Li A case report of neuronal intranuclear inclusion disease and literature review BMC Neurology Neuronal intranuclear inclusion disease Autoimmune encephalitis NOTCH2NLC gene Neurodegenerative disease |
| title | A case report of neuronal intranuclear inclusion disease and literature review |
| title_full | A case report of neuronal intranuclear inclusion disease and literature review |
| title_fullStr | A case report of neuronal intranuclear inclusion disease and literature review |
| title_full_unstemmed | A case report of neuronal intranuclear inclusion disease and literature review |
| title_short | A case report of neuronal intranuclear inclusion disease and literature review |
| title_sort | case report of neuronal intranuclear inclusion disease and literature review |
| topic | Neuronal intranuclear inclusion disease Autoimmune encephalitis NOTCH2NLC gene Neurodegenerative disease |
| url | https://doi.org/10.1186/s12883-024-03997-2 |
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