Abstract：
Adult onset neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder with a heterogeneous clinical presentation that can mimic stroke and various forms of dementia. To date, it has been described almost exclusively in Asian individuals.
This case presentation includes magnetic resonance imaging (MRI) of the neurocranium, histology by skin biopsy, and long-read genome sequencing.
A 75-year-old Caucasian female presented with paroxysmal encephalopathy twice within a 14-month period. Brain MRI revealed high-intensity signals at the cerebral corticomedullary junction (diffusion-weighted imaging) and the paravermal area (fluid-attenuated inversion recovery), a typical distribution observed in adult onset NIID. The diagnosis was corroborated by skin biopsy, which demonstrated eosinophilic intranuclear inclusion bodies, and confirmed by long-read genome sequencing, showing an expansion of the GGC repeat in exon 1 of NOTCH2NLC.
Our case proves adult onset NOTCH2NLC-GGC-positive NIID with typical findings on MRI and histology in a Caucasian patient and underscores the need to consider this diagnosis in non-Asian individuals.
This case presentation includes magnetic resonance imaging (MRI) of the neurocranium, histology by skin biopsy, and long-read genome sequencing.
A 75-year-old Caucasian female presented with paroxysmal encephalopathy twice within a 14-month period. Brain MRI revealed high-intensity signals at the cerebral corticomedullary junction (diffusion-weighted imaging) and the paravermal area (fluid-attenuated inversion recovery), a typical distribution observed in adult onset NIID. The diagnosis was corroborated by skin biopsy, which demonstrated eosinophilic intranuclear inclusion bodies, and confirmed by long-read genome sequencing, showing an expansion of the GGC repeat in exon 1 of NOTCH2NLC.
Our case proves adult onset NOTCH2NLC-GGC-positive NIID with typical findings on MRI and histology in a Caucasian patient and underscores the need to consider this diagnosis in non-Asian individuals.
摘要：
背景：成人发作的神经元核内包涵体病（NIID）是一种罕见的神经退行性疾病，具有异质性的临床表现，可以模仿中风和各种形式的痴呆。迄今为止,几乎只在亚洲人身上描述过。
方法：病例介绍，包括神经颅骨的MRI成像，通过皮肤活检和长读基因组测序进行组织学检查。
结果：一名75岁的白人女性在14个月内两次出现阵发性脑病。脑MRI显示脑皮质髓质交界处（DWI）和近旁区域（FLAIR）的高强度信号，在成人发作的NIID中观察到的典型分布。皮肤活检证实了诊断,这证明了嗜酸性粒细胞核内包涵体，并通过长读基因组测序证实，显示NOTCH2NLC外显子1中GGC重复序列的扩展。
结论：我们的病例证明了成人发病的NOTCH2NLC-GGC阳性NIID在高加索患者的MRI成像和组织学上具有典型发现，并强调了在非亚洲人群中也需要考虑这种诊断。
方法：病例介绍，包括神经颅骨的MRI成像，通过皮肤活检和长读基因组测序进行组织学检查。
结果：一名75岁的白人女性在14个月内两次出现阵发性脑病。脑MRI显示脑皮质髓质交界处（DWI）和近旁区域（FLAIR）的高强度信号，在成人发作的NIID中观察到的典型分布。皮肤活检证实了诊断,这证明了嗜酸性粒细胞核内包涵体，并通过长读基因组测序证实，显示NOTCH2NLC外显子1中GGC重复序列的扩展。
结论：我们的病例证明了成人发病的NOTCH2NLC-GGC阳性NIID在高加索患者的MRI成像和组织学上具有典型发现，并强调了在非亚洲人群中也需要考虑这种诊断。
