Neuronal intranuclear inclusion disease complicated by acute middle cerebral artery infarction: A case report

IF 1.8 4区医学 Q3 NEUROSCIENCES

Journal of Stroke & Cerebrovascular Diseases Pub Date : 2025-08-15 DOI:10.1016/j.jstrokecerebrovasdis.2025.108424

Xueming Li M.Med. , Weijiang Ding M.D. , Tao Jiang M.Med.

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引用次数: 0

Abstract

Background

Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder with no prior reports linking it to acute large-vessel cerebral infarction.

Methods

A 65-year-old man with progressive limb numbness and acute neuropsychiatric symptoms underwent MRI, skin biopsy, and genetic testing.

Results

MRI revealed corticomedullary "ribbon signs" and right middle cerebral artery (MCA) stenosis. Follow - up imaging not only confirmed the occlusion of the MCA accompanied by an infarction in the basal ganglia but also indicated an enlargement of the "ribbon signs". Skin biopsy showed p62-positive intranuclear inclusions; genetic testing identified a NOTCH2NLC GGC expansion (>41 repeats). Despite treatment, the patient died of pneumonia three months post-infarction.

Conclusions

This single-case, first-reported observational study of NIID with large-vessel stenosis illustrates a potential vasculopathic link. While robust histopathological validation is pending, the temporal correlation between NIID progression and vascular events warrants further investigation.

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神经元核内包涵病并发急性大脑中动脉梗死1例

背景：神经元核内包涵病（NIID）是一种罕见的神经退行性疾病，未见与急性大血管脑梗死相关的报道。方法65岁男性，伴有进行性肢体麻木和急性神经精神症状，行MRI、皮肤活检和基因检测。结果mri显示皮质髓质“带状征”及右侧大脑中动脉狭窄。随访影像不仅证实了中动脉闭塞伴基底节区梗死，而且显示“带状征象”扩大。皮肤活检显示核内包涵体p62阳性；基因检测发现NOTCH2NLC GGC扩增（>；41重复）。尽管接受了治疗，但患者在梗塞3个月后死于肺炎。结论：这一首次报道的单例NIID与大血管狭窄的观察性研究表明了潜在的血管病变联系。虽然还有待组织病理学验证，但NIID进展与血管事件之间的时间相关性值得进一步研究。

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来源期刊

Journal of Stroke & Cerebrovascular Diseases Medicine-Surgery

CiteScore

5.00

自引率

4.00%

发文量

583

审稿时长

62 days

期刊介绍： The Journal of Stroke & Cerebrovascular Diseases publishes original papers on basic and clinical science related to the fields of stroke and cerebrovascular diseases. The Journal also features review articles, controversies, methods and technical notes, selected case reports and other original articles of special nature. Its editorial mission is to focus on prevention and repair of cerebrovascular disease. Clinical papers emphasize medical and surgical aspects of stroke, clinical trials and design, epidemiology, stroke care delivery systems and outcomes, imaging sciences and rehabilitation of stroke. The Journal will be of special interest to specialists involved in caring for patients with cerebrovascular disease, including neurologists, neurosurgeons and cardiologists.