不自主運(yùn)動(dòng)與體位變化顯著相關(guān)的致死性家族性失眠癥一例

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摘要：致死性家族性失眠癥是一種罕見(jiàn)的常染色體顯性遺傳的朊蛋白病，本文報(bào)道1例確診的致死性家族性失眠癥患者的臨床癥狀、相關(guān)檢查、診斷、治療及預(yù)后情況，并對(duì)其不自主運(yùn)動(dòng)、喉部喘鳴與體位改變顯著相關(guān)的獨(dú)特臨床表現(xiàn)進(jìn)行描述，以期為該病今后的臨床診治和研究提供參考。

關(guān)鍵詞：致死性家族性失眠癥；不自主運(yùn)動(dòng)；體位變化

中圖分類號(hào)： R742  文獻(xiàn)標(biāo)識(shí)碼： B  文章編號(hào)：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

致死性家族性失眠癥（fatal familial insomnia，F(xiàn)FI）是一種罕見(jiàn)的常染色體顯性遺傳性朊蛋白病，發(fā)病率約為1/1 000 000［1］。（剩余4993字）