成人型神经元核内包涵体病三例报道并文献复习

Adult-onset Neuronal Intranuclear Inclusion Disease:Three Cases Reports and Literature Review

神经元核内包涵体病(NIID)属临床罕见病,以神经元、内脏器官细胞核内出现嗜酸性透明包涵体为主要病理特征,但其临床表现具有高度异质性。影像学检查结果对于NIID的诊断具有重要参考价值,皮肤活检发现核内嗜酸性包涵体可确诊为NIID。本文报道了3例NIID患者并进行了文献复习,以期提高临床对NIID的认识和关注度。

Neuronal intranuclear inclusion disease(NIID)is rare on clinic,which primarily pathologically performed as eosinophilic transparent inclusion bodies in neurons and visceral cells,however its clinical manifestations of NIID are highly heterogeneous. Imaging findings have important reference value in diagnosing NIID,but finding of endonuclear eosinophilic inclusion bodies in skin biopsy may make a definite diagnosis of NIID. This paper reported 3 patients with NIID and reviewed pertinent literatures,in order to improve the clinical understanding and attention of NIID.