神经元核内包涵体病1例报道及文献复习

A case report of neuronal intranulear inclusion disease and review of literature

目的报告1例可疑神经元核内包涵体病(neuronal intranulear inclusion disease,NIID)病例。方法患者入院后进行体格检查,并进行影像学、心电图等辅助检查,因患者拒绝未进行皮肤病理活检。结果患者反应迟钝,理解力差,计算力差,构音欠清,行走稍欠稳;心电图未见明显异常;DWI有特征性的皮髓交界区"火焰状"高信号,T2、FLAIR显示白质内高信号。结论临床具有中枢性、周围性、自主性等广泛的神经症状,皮髓质交界处持续性DWI高信号,T2、FLAIR序列出现以额叶为主的脑白质高信号者应高度怀疑NIID,皮肤病理活检可确诊。

Objective To report a case of neuronal intranulear inclusion disease(NIID).Methods After the patient was admitted to the hospital,physical examination was performed,and imaging,electrocardiogram and other auxiliary examinations were performed.The patient refused to perform skin pathological biopsy.Results The patients were unresponsive,poorly understood,poorly calculated,poorly structured,and slightly unstable.There was no obvious abnormality in the electrocardiogram.DWI had a characteristic"flame"high signal in the junction of the skin and the bone,and T 2/FLAIR showed white matter.Internal high signal.Conclusion The clinical system has a wide range of neurological symptoms such as central,peripheral,and autonomic.The DWI is highly signaled at the junction of cortex and medulla.The T2 and FLAIR sequences are highly signaled by the frontal lobe.Pathological biopsy can confirm the diagnosis.