A case of neuronal intranuclear inclusion disease (NIID) presenting with hydrocephalus-like clinical features: case report
Abstract Background Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder characterized by the presence of inclusions within the nuclei of various cell types. The clinical manifestations of patients with NIID are diverse. Here, we present the case of a patient with NIID...
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2025-02-01
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| Online Access: | https://doi.org/10.1186/s12883-025-04056-0 |
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| author | Yonghong Wang Yongxiang Li Wei Pan Yuezhen Shen Junxia Li Ying Liu Yuhua Peng Shulai Zhu |
| author_facet | Yonghong Wang Yongxiang Li Wei Pan Yuezhen Shen Junxia Li Ying Liu Yuhua Peng Shulai Zhu |
| author_sort | Yonghong Wang |
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| description | Abstract Background Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder characterized by the presence of inclusions within the nuclei of various cell types. The clinical manifestations of patients with NIID are diverse. Here, we present the case of a patient with NIID whose clinical presentation and magnetic resonance features closely resembled those of hydrocephalus. Case presentation The patient was 71-year-old woman with no significant family history. Seven years previously, she began to experience tremors in both hands, which occurred at rest and while holding objects; this was accompanied by urinary incontinence. Four years previously, she developed weakness in both lower limbs, an unstable gait, and dizziness. Over the past year, she noticed stiffening at the root of her tongue, cognitive decline, and slower reaction times compared to her previous state. Upon admission, cranial magnetic resonance imaging (MRI) revealed hydrocephalus-like changes. A cerebrospinal fluid drainage test returned negative results. The patient presented with tremors and urinary incontinence. Physical examination indicated pupillary constriction, and electromyography suggested peripheral neuropathy. Genetic testing revealed 91 GGC repeats in the NOTCH2NLC gene, indicating abnormal expansion. The final diagnosis was NIID. We provided symptomatic treatment for the tremor and cognitive impairment, but there was no significant improvement in the clinical symptoms. Conclusions Our case suggests that when a patient presents with clinical symptoms and MRI findings resembling hydrocephalus, the possibility of NIID should be considered, especially in the presence of tremors and autonomic symptoms. |
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| institution | Kabale University |
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| language | English |
| publishDate | 2025-02-01 |
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| spelling | doaj-art-2e8782e7b7b143129ec05dd0d4b94b6c2025-02-09T12:43:04ZengBMCBMC Neurology1471-23772025-02-012511610.1186/s12883-025-04056-0A case of neuronal intranuclear inclusion disease (NIID) presenting with hydrocephalus-like clinical features: case reportYonghong Wang0Yongxiang Li1Wei Pan2Yuezhen Shen3Junxia Li4Ying Liu5Yuhua Peng6Shulai Zhu7Department of Internal Neurology, The Second People’s Hospital of Liao ChengDepartment of Internal Neurology, The Second People’s Hospital of Liao ChengDepartment of Internal Neurology, The Second People’s Hospital of Liao ChengDepartment of Internal Neurology, The Second People’s Hospital of Liao ChengDepartment of Internal Neurology, The Second People’s Hospital of Liao ChengDepartment of Internal Neurology, The Second People’s Hospital of Liao ChengDepartment of Internal Neurology, The Second People’s Hospital of Liao ChengDepartment of Internal Neurology, The Second People’s Hospital of Liao ChengAbstract Background Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder characterized by the presence of inclusions within the nuclei of various cell types. The clinical manifestations of patients with NIID are diverse. Here, we present the case of a patient with NIID whose clinical presentation and magnetic resonance features closely resembled those of hydrocephalus. Case presentation The patient was 71-year-old woman with no significant family history. Seven years previously, she began to experience tremors in both hands, which occurred at rest and while holding objects; this was accompanied by urinary incontinence. Four years previously, she developed weakness in both lower limbs, an unstable gait, and dizziness. Over the past year, she noticed stiffening at the root of her tongue, cognitive decline, and slower reaction times compared to her previous state. Upon admission, cranial magnetic resonance imaging (MRI) revealed hydrocephalus-like changes. A cerebrospinal fluid drainage test returned negative results. The patient presented with tremors and urinary incontinence. Physical examination indicated pupillary constriction, and electromyography suggested peripheral neuropathy. Genetic testing revealed 91 GGC repeats in the NOTCH2NLC gene, indicating abnormal expansion. The final diagnosis was NIID. We provided symptomatic treatment for the tremor and cognitive impairment, but there was no significant improvement in the clinical symptoms. Conclusions Our case suggests that when a patient presents with clinical symptoms and MRI findings resembling hydrocephalus, the possibility of NIID should be considered, especially in the presence of tremors and autonomic symptoms.https://doi.org/10.1186/s12883-025-04056-0Neuronal intranuclear inclusion diseaseHydrocephalus-like MRI imagingNOTCH2NLC geneCase report |
| spellingShingle | Yonghong Wang Yongxiang Li Wei Pan Yuezhen Shen Junxia Li Ying Liu Yuhua Peng Shulai Zhu A case of neuronal intranuclear inclusion disease (NIID) presenting with hydrocephalus-like clinical features: case report BMC Neurology Neuronal intranuclear inclusion disease Hydrocephalus-like MRI imaging NOTCH2NLC gene Case report |
| title | A case of neuronal intranuclear inclusion disease (NIID) presenting with hydrocephalus-like clinical features: case report |
| title_full | A case of neuronal intranuclear inclusion disease (NIID) presenting with hydrocephalus-like clinical features: case report |
| title_fullStr | A case of neuronal intranuclear inclusion disease (NIID) presenting with hydrocephalus-like clinical features: case report |
| title_full_unstemmed | A case of neuronal intranuclear inclusion disease (NIID) presenting with hydrocephalus-like clinical features: case report |
| title_short | A case of neuronal intranuclear inclusion disease (NIID) presenting with hydrocephalus-like clinical features: case report |
| title_sort | case of neuronal intranuclear inclusion disease niid presenting with hydrocephalus like clinical features case report |
| topic | Neuronal intranuclear inclusion disease Hydrocephalus-like MRI imaging NOTCH2NLC gene Case report |
| url | https://doi.org/10.1186/s12883-025-04056-0 |
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