Neuronal intranuclear inclusion disease (NIID) is a slowly progressive neurodegenerative disorder with a wide range of clinical manifestations, including dementia and peripheral neuropathy.¹ NIID is pathologically characterized by eosinophilic hyaline intranuclear inclusions found in the central and peripheral nervous systems and various organs, including the skin,^1,2 which enables the confirmation of a diagnosis by skin biopsy.² High-intensity signals along the corticomedullary junction on diffusion-weighted imaging (DWI) and bilateral leukoencephalopathy are also specific features of NIID¹ and extend as the disease progresses.^1,3 However, the clinical and pathophysiologic significance of cerebral blood flow remains undetermined. In this study, we present the case of a patient with NIID exhibiting dynamic perfusion changes on arterial spin labeling (ASL) before typical subcortical DWI signals. The patient's clinical manifestations and radiologic changes are very unique and remarkable for NIID. Her diagnosis was confirmed by skin biopsy and genomic analysis.

神经元核内包涵体病 (NIID) 是一种缓慢进展的神经退行性疾病，具有广泛的临床表现，包括痴呆和周围神经病变。¹ NIID 的病理学特征是在中枢和外周神经系统以及各种器官（包括皮肤）中发现嗜酸性透明核内包涵体，^1,2可以通过皮肤活检确认诊断。²弥散加权成像 (DWI) 和双侧白质脑病沿皮质髓质连接处的高强度信号也是 NIID ^{1 的}特定特征，并随着疾病的进展而扩展。^1,3然而，脑血流的临床和病理生理学意义仍未确定。在这项研究中，我们介绍了 NIID 患者在典型皮层下 DWI 信号之前在动脉自旋标记 (ASL) 上表现出动态灌注变化的案例。NIID患者的临床表现和影像学改变非常独特和显着。皮肤活检和基因组分析证实了她的诊断。