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.
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。