A fatal familial insomnia patient initially misdiagnosed as Alzheimer's disease: a case report.

IF 2.2 3区医学 Q3 CLINICAL NEUROLOGY

BMC Neurology Pub Date : 2024-12-23 DOI:10.1186/s12883-024-03999-0

Meizhao Qiao, Huimin Wu, Lei Chi, Qun Yao, Xinyang Qi, Xing Ye, Xingjian Lin, Minjie Tian

{"title":"A fatal familial insomnia patient initially misdiagnosed as Alzheimer's disease: a case report.","authors":"Meizhao Qiao, Huimin Wu, Lei Chi, Qun Yao, Xinyang Qi, Xing Ye, Xingjian Lin, Minjie Tian","doi":"10.1186/s12883-024-03999-0","DOIUrl":null,"url":null,"abstract":"Background: Fatal familial insomnia (FFI) is a rare autosomal dominant inherited disease and a type of prion diseases. We report a case of fatal familial insomnia (FFI) in a 52-year-old man who was initially misdiagnosed as Alzheimer's disease.Case presentation: The patient presented with persistent insomnia as the initial symptom, accompanied by cognitive impairment, autonomic dysfunction, and disorders of voluntary movement. Cerebrospinal fluid analysis revealed a decrease in Aβ1-40 levels and an increase in total tau protein. Cranial imaging demonstrated bilateral hippocampal atrophy, while long-term video electroencephalography indicated focal abnormalities. The patient's prion protein gene was D178N/129MM type, confirmed the diagnosis of FFI.Conclusions: The key characteristics of FFI include insomnia and rapidly progressive dementia, its differential diagnosis with AD has been extensively discussed in clinical practice. This is the first report of FFI concerning Aβ and tau protein, raises the awareness that the ratio of p-tau/t-tau in cerebrospinal fluid can provide valuable diagnostic clues for FFI.","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"24 1","pages":"489"},"PeriodicalIF":2.2000,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"BMC Neurology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1186/s12883-024-03999-0","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}

引用次数: 0

Abstract

Background: Fatal familial insomnia (FFI) is a rare autosomal dominant inherited disease and a type of prion diseases. We report a case of fatal familial insomnia (FFI) in a 52-year-old man who was initially misdiagnosed as Alzheimer's disease.

Case presentation: The patient presented with persistent insomnia as the initial symptom, accompanied by cognitive impairment, autonomic dysfunction, and disorders of voluntary movement. Cerebrospinal fluid analysis revealed a decrease in Aβ_1-40 levels and an increase in total tau protein. Cranial imaging demonstrated bilateral hippocampal atrophy, while long-term video electroencephalography indicated focal abnormalities. The patient's prion protein gene was D178N/129MM type, confirmed the diagnosis of FFI.

Conclusions: The key characteristics of FFI include insomnia and rapidly progressive dementia, its differential diagnosis with AD has been extensively discussed in clinical practice. This is the first report of FFI concerning Aβ and tau protein, raises the awareness that the ratio of p-tau/t-tau in cerebrospinal fluid can provide valuable diagnostic clues for FFI.

查看原文本刊更多论文

求助全文

约1分钟内获得全文求助全文

来源期刊

BMC Neurology 医学-临床神经学

CiteScore

4.20

自引率

0.00%

发文量

428

审稿时长

3-8 weeks

期刊介绍： BMC Neurology is an open access, peer-reviewed journal that considers articles on all aspects of the prevention, diagnosis and management of neurological disorders, as well as related molecular genetics, pathophysiology, and epidemiology.