Dual diagnosis at the neuro-immune interface: a case report of neuronal intranuclear inclusion disease with acute anti-CASPR2 encephalitis
Neuronal intranuclear inclusion disease (NIID) is a rare autosomal-dominant, progressive neurodegenerative condition characterized by complex and variable clinical manifestations that can affect multiple neurological domains. This report describes the case of a 49-year-old female patient with a 10-y...
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Frontiers Media S.A.
2025-08-01
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| Series: | Frontiers in Immunology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fimmu.2025.1650420/full |
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| author | Wan Zhu Tiansi Liu Tiansi Liu Xinran Yu Min Peng Min Peng Jinghan Hu Jinghan Hu |
| author_facet | Wan Zhu Tiansi Liu Tiansi Liu Xinran Yu Min Peng Min Peng Jinghan Hu Jinghan Hu |
| author_sort | Wan Zhu |
| collection | DOAJ |
| description | Neuronal intranuclear inclusion disease (NIID) is a rare autosomal-dominant, progressive neurodegenerative condition characterized by complex and variable clinical manifestations that can affect multiple neurological domains. This report describes the case of a 49-year-old female patient with a 10-year history of headaches, whose older sister had been diagnosed with NIID 1 year earlier through genetic testing and a skin biopsy. Recently, the patient developed dizziness and vomiting. Although symptomatic treatment reduced incidents of vomiting, her dizziness progressively worsened. It was accompanied by lower limb weakness, gait instability, hallucinations, and abnormal sleep behaviors. Routine imaging and cerebrospinal fluid immunological and microbiological tests revealed no abnormalities. Genetic analysis revealed a 130-repeat expansion in the NOTCH2NLC gene, and skin biopsy confirmed the presence of intranuclear inclusions, establishing the NIID diagnosis. However, during hospitalization, the patient’s bilateral lower limb tremors, hallucinations, and abnormal sleep behaviors suggested a possible acute encephalitic process. Subsequent serum testing detected positive anti-contactin-associated protein-like 2 (CASPR2) antibodies. Significant symptom improvement following treatment with immunoglobulins and steroids supported the diagnosis of coexisting acute anti-CASPR2 antibody encephalitis and NIID. This is the first reported case of dual disease coexistence. |
| format | Article |
| id | doaj-art-f82ec633f6c04523a40efcc4903394c6 |
| institution | Kabale University |
| issn | 1664-3224 |
| language | English |
| publishDate | 2025-08-01 |
| publisher | Frontiers Media S.A. |
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| series | Frontiers in Immunology |
| spelling | doaj-art-f82ec633f6c04523a40efcc4903394c62025-08-26T04:13:05ZengFrontiers Media S.A.Frontiers in Immunology1664-32242025-08-011610.3389/fimmu.2025.16504201650420Dual diagnosis at the neuro-immune interface: a case report of neuronal intranuclear inclusion disease with acute anti-CASPR2 encephalitisWan Zhu0Tiansi Liu1Tiansi Liu2Xinran Yu3Min Peng4Min Peng5Jinghan Hu6Jinghan Hu7Kunming University of Science and Technology, Affiliated Hospital, People’s Hospital of Wenshan Prefecture, Department of Radiology, Wenshan, ChinaKunming University of Science and Technology, Affiliated Hospital, People’s Hospital of Wenshan Prefecture, Department of Neurology, Wenshan, ChinaThe Affiliated Hospital of Kunming University of Science and Technology, Kunming, ChinaKunming University of Science and Technology, Affiliated Hospital, People’s Hospital of Wenshan Prefecture, Department of Radiology, Wenshan, ChinaKunming University of Science and Technology, Affiliated Hospital, People’s Hospital of Wenshan Prefecture, Department of Neurology, Wenshan, ChinaThe Affiliated Hospital of Kunming University of Science and Technology, Kunming, ChinaKunming University of Science and Technology, Affiliated Hospital, People’s Hospital of Wenshan Prefecture, Department of Neurology, Wenshan, ChinaThe Affiliated Hospital of Kunming University of Science and Technology, Kunming, ChinaNeuronal intranuclear inclusion disease (NIID) is a rare autosomal-dominant, progressive neurodegenerative condition characterized by complex and variable clinical manifestations that can affect multiple neurological domains. This report describes the case of a 49-year-old female patient with a 10-year history of headaches, whose older sister had been diagnosed with NIID 1 year earlier through genetic testing and a skin biopsy. Recently, the patient developed dizziness and vomiting. Although symptomatic treatment reduced incidents of vomiting, her dizziness progressively worsened. It was accompanied by lower limb weakness, gait instability, hallucinations, and abnormal sleep behaviors. Routine imaging and cerebrospinal fluid immunological and microbiological tests revealed no abnormalities. Genetic analysis revealed a 130-repeat expansion in the NOTCH2NLC gene, and skin biopsy confirmed the presence of intranuclear inclusions, establishing the NIID diagnosis. However, during hospitalization, the patient’s bilateral lower limb tremors, hallucinations, and abnormal sleep behaviors suggested a possible acute encephalitic process. Subsequent serum testing detected positive anti-contactin-associated protein-like 2 (CASPR2) antibodies. Significant symptom improvement following treatment with immunoglobulins and steroids supported the diagnosis of coexisting acute anti-CASPR2 antibody encephalitis and NIID. This is the first reported case of dual disease coexistence.https://www.frontiersin.org/articles/10.3389/fimmu.2025.1650420/fullanti-CASPR2 antibody encephalitisautoimmune encephalitisMorvan syndromeneuronal intranuclear inclusion diseaseNOTCH2NLC |
| spellingShingle | Wan Zhu Tiansi Liu Tiansi Liu Xinran Yu Min Peng Min Peng Jinghan Hu Jinghan Hu Dual diagnosis at the neuro-immune interface: a case report of neuronal intranuclear inclusion disease with acute anti-CASPR2 encephalitis Frontiers in Immunology anti-CASPR2 antibody encephalitis autoimmune encephalitis Morvan syndrome neuronal intranuclear inclusion disease NOTCH2NLC |
| title | Dual diagnosis at the neuro-immune interface: a case report of neuronal intranuclear inclusion disease with acute anti-CASPR2 encephalitis |
| title_full | Dual diagnosis at the neuro-immune interface: a case report of neuronal intranuclear inclusion disease with acute anti-CASPR2 encephalitis |
| title_fullStr | Dual diagnosis at the neuro-immune interface: a case report of neuronal intranuclear inclusion disease with acute anti-CASPR2 encephalitis |
| title_full_unstemmed | Dual diagnosis at the neuro-immune interface: a case report of neuronal intranuclear inclusion disease with acute anti-CASPR2 encephalitis |
| title_short | Dual diagnosis at the neuro-immune interface: a case report of neuronal intranuclear inclusion disease with acute anti-CASPR2 encephalitis |
| title_sort | dual diagnosis at the neuro immune interface a case report of neuronal intranuclear inclusion disease with acute anti caspr2 encephalitis |
| topic | anti-CASPR2 antibody encephalitis autoimmune encephalitis Morvan syndrome neuronal intranuclear inclusion disease NOTCH2NLC |
| url | https://www.frontiersin.org/articles/10.3389/fimmu.2025.1650420/full |
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