摘要
目的 总结8例成人型神经元核内包涵体病(NIID)的临床表现、诊断方法,提高对该病的认识,避免误诊.方法 收集湖南地区8例成人型NIID患者的临床资料,分析其临床表现、头颅影像、基因检测、皮肤活检等方面的特点.结果 8例患者中4例男性,4例女性;2例患者首发症状为头晕,2例为精神异常,2例为卒中样发作,1例为小便失禁,1例为肢体抖动;6例患者病情缓慢进展,2例患者在病情缓慢进展数年后出现病情突发进展;NOTCH2NLC基因5'-非翻译区GGC重复扩增突变、头颅磁共振弥散加权成像(DWI)示大脑皮髓交界区花边征、皮肤活检见核内嗜酸性透明样包涵体有助于诊断NIID.结论 NIID的临床表现具有高度异质性,部分患者首发临床症状罕见,容易误诊、漏诊,需结合影像学、基因检测和皮肤活检来确诊;部分患者可在病情缓慢进展多年后出现突发进展,预后差.
Abstract
Objective To summarize the clinical manifestations and diagnostic methods of adult neuronal intranuclear inclusion disease(NIID),improve understanding of the disease,and avoid misdiagnosis.Methods Clinical data of 8 adult NIID patients in the Hunan region were collected,and their clinical manifestations,cranial imaging,genetic testing,skin biopsy,and other characteristics were analyzed.Results Among the 8 patients,4 were males and 4 were females;The initial symptoms of 2 patients were dizziness,2 were mental abnormalities,2 were stroke like attacks,1 was urinary incontinence,and 1 was limb tremor;Six patients experienced slow progression of the disease,while two patients experienced sudden progression after several years of slow progression;The GGC repeat amplification mutation in the 5'untranslated region of the NOTCH2NLC gene,as well as the lace like sign in the brain cortex medullary junction on diffusion-weighted imaging(DWI)and the presence of eosinophilic transparent inclusion bodies in the nucleus on skin biopsy,were helpful in diagnosing NIID.Conclusions The clinical manifestations of NIID are highly heterogeneous,and some patients have rare initial clinical symptoms,which are prone to misdiagnosis and missed diagnosis.It is necessary to combine imaging,genetic testing,and skin biopsy to confirm the diagnosis;Some patients may experience sudden progression and poor prognosis after years of slow progression.
基金项目
南华大学 4310 项目(20214310NHYCG08)
南华大学 4310 项目(20224310NHYCG08)
维普
万方数据