成人型神经元核内包涵体病一例并文献复习

Adult-onset neuronal intranuclear inclusion disease： a case report and review of literature

分析1例成人型神经元核内包涵体病（NIID）患者的临床、影像学及皮肤病理学特征，探讨成人型NIID的临床、病理特点及诊断方法。患者为61岁女性，临床表现为进行性认知功能减退、发作性意识障碍、卒中样发作、发作性消化道症状；头颅磁共振弥散加权像显示皮髓交界绸带样分布高信号，持续存在。皮肤活体组织检查（活检）病理发现脂肪细胞、纤维细胞及汗腺细胞核内嗜酸性核内包涵体。该病例提示成人型NIID是具有高度临床异质性的慢性神经变性病，头颅MRI弥散像皮质下绸带征及皮肤活检示核内嗜酸性包涵体有助于诊断。

The clinical, pathological features and diagnostic methods of one case of adult-onset neuronal intranuelear inclusion disease （NIID） were analyzed. The patient was 61-year-old female presented with progressive cognitive impairment, episodic unconsciousness, stroke-like attack and paroxysmal digestive tract symptoms. Diffusion-weighted images showed high signals at the cerebral cortico-meduilary junction with lace-type distribution, which persisted. Skin biopsy revealed intranuclear inclusion bodies in adipocytes, fibroblasts, and sweat gland cells. This case suggests that adult neuronal nuclear inclusion disease is a chronically progressive neurodegenerative disease with a highly clinical heterogeneity. The subcortical lace sign and eosinophilic intranuclear inclusion bodies by skin biopsy contribute to the diagnosis.