不自主运动与体位变化显著相关的致死性家族性失眠症一例  

Fatal Familial Insomnia With Significant Correlations Between Involuntary Movements and Postural Changes:Report of One Case

作　　者：张莉 孙慧[1] 张世敏 高赛 武雷 黄德晖 ZHANG Li;SUN Hui;ZHANG Shimin;GAO Sai;WU Lei;HUANG Dehui(Department of Neurology,The First Medical Center of PLA General Hospital,Beijing 100853,China;Department of Neurology,Nanyang First People’s Hospital,Nanyang,Henan 473000,China)

机构地区：[1]中国人民解放军总医院第一医学中心神经内科医学部,北京100853 [2]河南省南阳市第一人民医院神经内科,河南南阳473000

出　　处：《中国医学科学院学报》2024年第1期135-138,共4页Acta Academiae Medicinae Sinicae

摘　　要：致死性家族性失眠症是一种罕见的常染色体显性遗传的朊蛋白病,本文报道1例确诊的致死性家族性失眠症患者的临床症状、相关检查、诊断、治疗及预后情况,并对其不自主运动、喉部喘鸣与体位改变显著相关的独特临床表现进行描述,以期为该病今后的临床诊治和研究提供参考。Fatal familial insomnia,an autosomal dominant prion disease,is rare.We reported the clinical symptoms,examination results,diagnosis,treatment,and prognosis of a patient who was diagnosed with fatal familial insomnia.Furthermore,we described the unique clinical manifestations that involuntary movements and laryngeal stridor were significantly correlated with postural changes,aiming to provide reference for the clinical diagnosis,treatment,and research of the disease in the future.

关 键 词：致死性家族性失眠症 不自主运动 体位变化 

分 类 号：R742[医药卫生—神经病学与精神病学]