Neuronal intranuclear inclusion disease with subtle imaging findings: a case report and literature review
Introduction Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder. Hyperintense signals on diffusion-weighted imaging (DWI) at the corticomedullary junction are key diagnostic features. Early manifestations are often overlooked, leading to misdiagnoses. Here, we report...
Saved in:
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMJ Publishing Group
2025-08-01
|
| Series: | BMJ Neurology Open |
| Online Access: | https://neurologyopen.bmj.com/content/7/2/e001033.full |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849768578840002560 |
|---|---|
| author | Tian Zhang Xiaoying Zhang Jiehua Ma Ziyang Huang Yuwen Wang Meiduo Gesang Chenling Hu |
| author_facet | Tian Zhang Xiaoying Zhang Jiehua Ma Ziyang Huang Yuwen Wang Meiduo Gesang Chenling Hu |
| author_sort | Tian Zhang |
| collection | DOAJ |
| description | Introduction Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder. Hyperintense signals on diffusion-weighted imaging (DWI) at the corticomedullary junction are key diagnostic features. Early manifestations are often overlooked, leading to misdiagnoses. Here, we report a case of adult-onset NIID with DWI hyperintensities at the corticomedullary junction.Case presentation A 72-year-old woman presented with progressive memory deterioration starting 9 years ago. In the third year, MRI showed extensive white matter lesions and brain atrophy, with focal high signal intensity in the corticomedullary junction of the frontal lobe; however, this was overlooked. The patient was clinically diagnosed with Alzheimer’s disease. In the seventh year, the patient gradually developed emotional instability, bradykinesia and urinary incontinence. In the eighth year, MRI revealed a remarkable curvilinear DWI hyperintense signal at the corticomedullary junction. Further genetic testing identified 105 GGC repeats in the NOTCH2NLC gene. Skin biopsy revealed intranuclear inclusions in P62 and ubiquitin-positive fibroblasts, confirming the NIID diagnosis.Conclusions Patients with NIID show characteristic DWI hyperintensity at the corticomedullary junction during symptoms. This early imaging finding is subtle and often overlooked. For patients with dementia and episodic encephalopathy, observing radiological changes, along with genetic and skin biopsies, is indispensable. |
| format | Article |
| id | doaj-art-351e2910883f4df68947c9d06ce4c90a |
| institution | DOAJ |
| issn | 2632-6140 |
| language | English |
| publishDate | 2025-08-01 |
| publisher | BMJ Publishing Group |
| record_format | Article |
| series | BMJ Neurology Open |
| spelling | doaj-art-351e2910883f4df68947c9d06ce4c90a2025-08-20T03:03:45ZengBMJ Publishing GroupBMJ Neurology Open2632-61402025-08-017210.1136/bmjno-2025-001033Neuronal intranuclear inclusion disease with subtle imaging findings: a case report and literature reviewTian Zhang0Xiaoying Zhang1Jiehua Ma2Ziyang Huang3Yuwen Wang4Meiduo Gesang5Chenling Hu61Xencor Inc., Pasadena, CA, USA1 Department of Rheumatology and Immunology, Peking University People`s Hospital, Beijing, ChinaNanjing Maternal and Child Health Institute;Eye Hospital, China Academy of Chinese Medical Sciences, Beijing, ChinaDepartment of Radiation Oncology, Tianjin Medical University Cancer Institute & Hospital, Tianjin, 300060, ChinaZhejiang University School of Medicine Affiliated Mental Health Centre & Hangzhou Seventh People’s Hospital, Hangzhou, ChinaZhejiang University School of Medicine Affiliated Mental Health Centre & Hangzhou Seventh People’s Hospital, Hangzhou, ChinaIntroduction Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder. Hyperintense signals on diffusion-weighted imaging (DWI) at the corticomedullary junction are key diagnostic features. Early manifestations are often overlooked, leading to misdiagnoses. Here, we report a case of adult-onset NIID with DWI hyperintensities at the corticomedullary junction.Case presentation A 72-year-old woman presented with progressive memory deterioration starting 9 years ago. In the third year, MRI showed extensive white matter lesions and brain atrophy, with focal high signal intensity in the corticomedullary junction of the frontal lobe; however, this was overlooked. The patient was clinically diagnosed with Alzheimer’s disease. In the seventh year, the patient gradually developed emotional instability, bradykinesia and urinary incontinence. In the eighth year, MRI revealed a remarkable curvilinear DWI hyperintense signal at the corticomedullary junction. Further genetic testing identified 105 GGC repeats in the NOTCH2NLC gene. Skin biopsy revealed intranuclear inclusions in P62 and ubiquitin-positive fibroblasts, confirming the NIID diagnosis.Conclusions Patients with NIID show characteristic DWI hyperintensity at the corticomedullary junction during symptoms. This early imaging finding is subtle and often overlooked. For patients with dementia and episodic encephalopathy, observing radiological changes, along with genetic and skin biopsies, is indispensable.https://neurologyopen.bmj.com/content/7/2/e001033.full |
| spellingShingle | Tian Zhang Xiaoying Zhang Jiehua Ma Ziyang Huang Yuwen Wang Meiduo Gesang Chenling Hu Neuronal intranuclear inclusion disease with subtle imaging findings: a case report and literature review BMJ Neurology Open |
| title | Neuronal intranuclear inclusion disease with subtle imaging findings: a case report and literature review |
| title_full | Neuronal intranuclear inclusion disease with subtle imaging findings: a case report and literature review |
| title_fullStr | Neuronal intranuclear inclusion disease with subtle imaging findings: a case report and literature review |
| title_full_unstemmed | Neuronal intranuclear inclusion disease with subtle imaging findings: a case report and literature review |
| title_short | Neuronal intranuclear inclusion disease with subtle imaging findings: a case report and literature review |
| title_sort | neuronal intranuclear inclusion disease with subtle imaging findings a case report and literature review |
| url | https://neurologyopen.bmj.com/content/7/2/e001033.full |
| work_keys_str_mv | AT tianzhang neuronalintranuclearinclusiondiseasewithsubtleimagingfindingsacasereportandliteraturereview AT xiaoyingzhang neuronalintranuclearinclusiondiseasewithsubtleimagingfindingsacasereportandliteraturereview AT jiehuama neuronalintranuclearinclusiondiseasewithsubtleimagingfindingsacasereportandliteraturereview AT ziyanghuang neuronalintranuclearinclusiondiseasewithsubtleimagingfindingsacasereportandliteraturereview AT yuwenwang neuronalintranuclearinclusiondiseasewithsubtleimagingfindingsacasereportandliteraturereview AT meiduogesang neuronalintranuclearinclusiondiseasewithsubtleimagingfindingsacasereportandliteraturereview AT chenlinghu neuronalintranuclearinclusiondiseasewithsubtleimagingfindingsacasereportandliteraturereview |