A fatal familial insomnia patient initially misdiagnosed as Alzheimer’s disease: a case report
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 pe...
Saved in:
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2024-12-01
|
| Series: | BMC Neurology |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12883-024-03999-0 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1846101054706417664 |
|---|---|
| author | Meizhao Qiao Huimin Wu Lei Chi Qun Yao Xinyang Qi Xing Ye Xingjian Lin Minjie Tian |
| author_facet | Meizhao Qiao Huimin Wu Lei Chi Qun Yao Xinyang Qi Xing Ye Xingjian Lin Minjie Tian |
| author_sort | Meizhao Qiao |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-781575d921a44060815080e67a7abca7 |
| institution | Kabale University |
| issn | 1471-2377 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Neurology |
| spelling | doaj-art-781575d921a44060815080e67a7abca72024-12-29T12:37:08ZengBMCBMC Neurology1471-23772024-12-012411710.1186/s12883-024-03999-0A fatal familial insomnia patient initially misdiagnosed as Alzheimer’s disease: a case reportMeizhao Qiao0Huimin Wu1Lei Chi2Qun Yao3Xinyang Qi4Xing Ye5Xingjian Lin6Minjie Tian7Department of Neurology, The Affiliated Brain Hospital of Nanjing Medical UniversityDepartment of Neurology, The Affiliated Brain Hospital of Nanjing Medical UniversityDepartment of Neurology, The Affiliated Brain Hospital of Nanjing Medical UniversityDepartment of Neurology, The Affiliated Brain Hospital of Nanjing Medical UniversityDepartment of Neurology, The Affiliated Brain Hospital of Nanjing Medical UniversityDepartment of Neurology, The Affiliated Brain Hospital of Nanjing Medical UniversityDepartment of Neurology, The Affiliated Brain Hospital of Nanjing Medical UniversityDepartment of Neurology, The Affiliated Brain Hospital of Nanjing Medical UniversityAbstract 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.https://doi.org/10.1186/s12883-024-03999-0Fatal familial insomniaAlzheimer’s diseasePrion diseaseAmyloid-βCase report |
| spellingShingle | Meizhao Qiao Huimin Wu Lei Chi Qun Yao Xinyang Qi Xing Ye Xingjian Lin Minjie Tian A fatal familial insomnia patient initially misdiagnosed as Alzheimer’s disease: a case report BMC Neurology Fatal familial insomnia Alzheimer’s disease Prion disease Amyloid-β Case report |
| title | A fatal familial insomnia patient initially misdiagnosed as Alzheimer’s disease: a case report |
| title_full | A fatal familial insomnia patient initially misdiagnosed as Alzheimer’s disease: a case report |
| title_fullStr | A fatal familial insomnia patient initially misdiagnosed as Alzheimer’s disease: a case report |
| title_full_unstemmed | A fatal familial insomnia patient initially misdiagnosed as Alzheimer’s disease: a case report |
| title_short | A fatal familial insomnia patient initially misdiagnosed as Alzheimer’s disease: a case report |
| title_sort | fatal familial insomnia patient initially misdiagnosed as alzheimer s disease a case report |
| topic | Fatal familial insomnia Alzheimer’s disease Prion disease Amyloid-β Case report |
| url | https://doi.org/10.1186/s12883-024-03999-0 |
| work_keys_str_mv | AT meizhaoqiao afatalfamilialinsomniapatientinitiallymisdiagnosedasalzheimersdiseaseacasereport AT huiminwu afatalfamilialinsomniapatientinitiallymisdiagnosedasalzheimersdiseaseacasereport AT leichi afatalfamilialinsomniapatientinitiallymisdiagnosedasalzheimersdiseaseacasereport AT qunyao afatalfamilialinsomniapatientinitiallymisdiagnosedasalzheimersdiseaseacasereport AT xinyangqi afatalfamilialinsomniapatientinitiallymisdiagnosedasalzheimersdiseaseacasereport AT xingye afatalfamilialinsomniapatientinitiallymisdiagnosedasalzheimersdiseaseacasereport AT xingjianlin afatalfamilialinsomniapatientinitiallymisdiagnosedasalzheimersdiseaseacasereport AT minjietian afatalfamilialinsomniapatientinitiallymisdiagnosedasalzheimersdiseaseacasereport AT meizhaoqiao fatalfamilialinsomniapatientinitiallymisdiagnosedasalzheimersdiseaseacasereport AT huiminwu fatalfamilialinsomniapatientinitiallymisdiagnosedasalzheimersdiseaseacasereport AT leichi fatalfamilialinsomniapatientinitiallymisdiagnosedasalzheimersdiseaseacasereport AT qunyao fatalfamilialinsomniapatientinitiallymisdiagnosedasalzheimersdiseaseacasereport AT xinyangqi fatalfamilialinsomniapatientinitiallymisdiagnosedasalzheimersdiseaseacasereport AT xingye fatalfamilialinsomniapatientinitiallymisdiagnosedasalzheimersdiseaseacasereport AT xingjianlin fatalfamilialinsomniapatientinitiallymisdiagnosedasalzheimersdiseaseacasereport AT minjietian fatalfamilialinsomniapatientinitiallymisdiagnosedasalzheimersdiseaseacasereport |