成人发病的神经元核内包涵体病1例

One case of adult onset neuronal nuclear inclusion body disease

神经元核内包涵体病(neuronal intranuclear inclusion body disease,NIID)是一种罕见的缓慢进展的可累及多系统的神经变性疾病,临床上异质性强,临床易误诊或漏诊。现报告1例经皮肤病理和基因检测明确的神经元核内包涵体病。患者,51岁,男,双上肢震颤9年余,认知下降4年,双眼视力下降4 d就诊。临床表现为帕金森病样表现、双侧瞳孔缩小、认知障碍等,头部磁共振DWI序列出现皮髓质交界区飘带征,皮肤病理活检小汗腺导管上皮及皮下脂肪组织内散在Ubiquitin及P62阳性的核内包涵体。基因检测:NOTCH2NLC中GGC重复扩增数>60。随访8个月,患者视力改善,其他症状无明显进展。该病例提示有必要提高对成人发病的神经元核内包涵体病的认识,通过影像学,皮肤活检以及NOTCH2NLC基因提高神经元核内包涵体病的诊断率。

This article reports a case of adult neuronal intranuclear inclusion body disease with clinical manifestations of tremor,cognitive decline,and binocular visual impairment,which has not been clearly diagnosed and treated before.By reporting on this case,we aim to enhance physicians’understanding of adult onset of neuronuclear inclusion body disease,and to improve the diagnostic rate of neuronuclear inclusion body disease through imaging,skin biopsy,and NOTCH2NLC gene.