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

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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。

关键词：致死性家族性失眠症；不自主运动；体位变化

中图分类号： R742  文献标识码： B  文章编号：1000-503X（2024）01-0135-04

DOI：10.3881/j.issn.1000-503X.15589

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

ZHANG Li1，2，SUN Hui1，ZHANG Shimin1，GAO Sai1，WU Lei1，HUANG Dehui1

1Department of Neurology，The First Medical Center of PLA General Hospital，Beijing 100853，China

2Department of Neurology，Nanyang First People’s Hospital，Nanyang，Henan 473000，China

Corresponding author：WU Lei  Tel：15001327627，E-mail：wlyingsh@163.com

ABSTRACT：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.

Key words：fatal familial insomnia；involuntary movement；postural changes

Acta Acad Med Sin，2024，46（1）：135-138

致死性家族性失眠症（fatal familial insomnia，FFI）是一种罕见的常染色体显性遗传性朊蛋白病，发病率约为1/1 000 000［1］。（剩余4993字）