Tek Merkez Deneyimi: Unutulmaması Gereken Nadir Bir Demans Nedeni Olarak Creutzfeldt-Jakob Hastalığı
Öz
Giriş: Önemli bir halk sağlığı sorunu olan demans primer ve sekonder demans olmak üzere iki gruba ayrılmaktadır. Çok nadir olarak görülen Creutzfeldt-Jakob hastalığı (CJH), hızlı progresif seyir gösteren bir sekonder demans nedenidir. CJH insanları ve hayvanları etkileyebilen enfeksiyöz spongioform ensefalopatilerden, ölümcül bir nörodejeneratif hastalıktır. Dört formu olan hastalığın en sık görülen formu olan sporadik CJH olgularında progresif kognitif bozukluk, miyoklonus ve ataksi tipik klinik tablodur. Bu çalışmada Nörolojik yoğun bakım ünitesinde tanı alan CJH olgularının demografik, klinik ve laboratuvar bulgularını tartışmayı amaçladık. Yöntem: Retrospektif olarak planlanan bu çalışmaya 16 hasta dahil edildi. Hastaların yaş, cinsiyet, başvuru şikayetleri, semptom başlangıcından mortaliteye kadar geçen süre, nörolojik muayene, beyin manyetik rezonans görüntüleme (MRG), elektroensefalografi (EEG) ve beyin omurilik sıvısında (BOS) protein 14.3.3 durumu kaydedildi. Bulgular: Ortalama yaş 61.18 ± 9.1 (37-73) olan hastaların başvuruda en sık karşılaşılan şikayetleri sırayla bilişsel bozukluk, bilinç bozukluğu, ataksi ve yürüme bozukluğu idi. BOS’ta protein 14.3.3 hastaların % 100'ünde pozitifti. En sık saptanan EEG bulgusu periyodik keskin dalga kompleksleri, en sık saptanan beyin MRG’de kortikal veya putamen ve kaudat nükleus hiperintensitesi ve kortikal ve serebellar atrofi idi. Bir hasta varyant CJH, diğer hastalar ise sporadik form olarak değerlendirildi. Sonuç: Progresif kognitif bozukluk ve eşlik eden miyoklonus veya ataksi varlığında CJH tanısı mutlaka akılda tutulmalıdır. Tanı için beyin görüntüleme, seri EEG kayıtlamaları, BOS analizi ve yapılabilirse histopatolojik inceleme yapılmalıdır.
Anahtar Kelimeler
Creutzfeldt-Jacob hastalığı elektroensefalografi kognitif bozukluk miyoklonus prion hastalıkları
Kaynakça
- 1. Green AJE. RT-QuIC: a new test for sporadic CJD. Practical Neurol 2019;19:49-55.
- 2. Feketeová E, Jarčušková D, Janáková A, Rozprávková A, Cifráková Z, Farkašová-Inaccone S et al. Creutzfeldt-Jakob Disease Surveillance in eastern Slovakia from 2004 to 2016. Cent Eur J Public Health 2018; 26 (Suppl):37–41.
- 3. Brown P, Budka H, Cervenakova L, Collie DA, Green A, Ironside JW, et al. WHO manual for surveillance of human transmissible spongiform encephalopathies including variant Creutzfeldt-Jakob disease. Geneva:WHO; 2003.p 12-3.
- 4. Brandel JP, Delasnerie-Lauprêtre N, Laplanche JL, Hauw JJ, Alpérovitch A. Diagnosis of Creutzfeldt-Jakob disease: effect of clinical criteria on incidence estimates. Neurology 2000;54(5):1095–9.
- 5. Gambetti P, Kong Q, Zou W, Parchi P, Chen SG. Sporadic and familial CJD: classification and characterisation. Br Med Bull 2003;66:213–39
- 6. Johnson DY, Dunkelberger DL, Henry M, Haman A, Greicius MD, Wong K et al. Sporadic Jakob-Creutzfeldt disease presenting as primary progressive aphasia. JAMA Neurol. 2013;70(2):254-7. doi:10.1001/2013.jamaneurol.139
- 7. Pocchiari M, Puopolo M, Croes EA, Budka H, Gelpi E, Collins S, et al. Predictors of survival in sporadic Creutzfeldt-Jakob disease and other human transmissible spongiform encephalopathies. Brain. 2004;127(pt 10):2348-59. doi:10.1093/brain/awh249
- 8. Mackenzie G, Will R. Creutzfeldt-Jacob disease: recent developments. F1000Res 2017;6:2053. doi: 10.12688/f1000research.12681.1
- 9. Collie DA, Sellar RJ, Zeidler M, Colchester AC, Knight R, Will RG, et al. MRI of Creutzfeldt-Jakob disease: imaging features and recommended MRI protocol. Clin Radiol 2001; 56:726.
- 10. Geschwind MD. Prion diseases. Continuum. 2015;21: 1612–38.
- 11. Dervaux A, Vicart S, Lopes F, Le Borgne MH. Psychiatric manifestations of a new variant of Creutzfeldt-Jakob disease. Apropros of a case. Encephale. 2001;27:194–7.
- 12. Ukisu R, Kushihashi T, Kitanosono T, Fujisawa H, Takenaka H, Ohgiya Y, et al. Serial diffusion-weighted MRI of Creutzfeldt-Jakob disease. AJR Am J Roentgenol 2005; 184:560.
- 13. Bavis J, Reynolds P, Tegeler C, Clark P. Asymmetric neuroimaging in Creutzfeldt-Jakob disease: a ruse. J Neuroimaging 2003; 13:376
- 14. Steinhoff BJ, Zerr I, Glatting M, Schulz-Schaeffer W, Poser S, Kretzschmar HA. Diagnostic value of periodic complexes in Creutzfeldt-Jakob disease. Ann Neurol 2004; 56:702.
- 15. Hansen HC, Zschocke S, Sturenburg HJ, Kunze K. Clinical changes and EEG patterns preceding the onset of periodic sharp wave complexes in Creutzfeldt‐Jakob disease. Acta Neurol Scand. 1998;97:99‐106.
- 16. Appel S, Cohen OS, Chapman J, Gilat S, Rosenmann H, Nitsan Z. The associaon of quantitative EEG and MRI in Creutzfeldt-Jacob Disease. Acta Neurol Scand 2019; 140:366-71.
- 17. Collins SJ, Sanchez-Juan P, Masters CL, Klug GM, van Duijn C, Poleggi A, et al. Determinants of diagnostic investigation sensitivities across the clinical spectrum of sporadic Creutzfeldt-Jakob disease. Brain 2006; 129:2278.
- 18. Bortone E, Bettoni L, Giorgi C, Terzano MG, Trabattoni GR, Mancia D. Reliability of EEG in the diagnosis of Creutzfeldt-Jakob disease. Electroencephalogr Clin Neurophysiol 1994; 90:323.
- 19. Na DL, Suh CK, Choi SH, Moon HS, Seo DW, Kim SE, et al. Diffusion‐weighted magnetic resonance imaging in probable Creutzfeldt‐Jakob disease: a clinical‐ana‐ tomic correlation. Arch Neurol. 1999;56:951‐7.
- 20. Mizobuchi M, Tanaka C, Sako K, Nihira A, Abe T, Shirasawa A. Correlation between periodic sharp wave complexes and diffusion‐ weighted magnetic resonance images in early stage of Creutzfeldt‐ Jakob disease: a report of two cases. Seizure. 2008;17:717‐22.
- 21. Zanusso G, Fiorini M, Farinazzo A, Gelati M, Benedetti MD, Ferrari S, et al. Phosphorylated 14-3-3zeta protein in the CSF of neuroleptic-treated patients. Neurology 2005; 64:1618.
- 22. Satoh J, Kurohara K, Yukitake M, Kuroda Y. The 14-3-3 protein detectable in the cerebrospinal fluid of patients with prion-unrelated neurological diseases is expressed constitutively in neurons and glial cells in culture. Eur Neurol 1999; 41:216.
- 23. Chapman T, McKeel DW Jr, Morris JC. Misleading results with the 14-3-3 assay for the diagnosis of Creutzfeldt-Jakob disease. Neurology 2000; 55:1396.
- 24. Foutz A, Appleby BS, Hamlin C, Liu X, Yang S, Cohen Y, et al. Diagnostic and prognostic value of human prion detection in cerebrospinal fluid. Ann Neurol 2017; 81:79-92.
- 25. Alberta Health and Wellness. Public Health Disease Management Guidelines. Creutzfeldt-Jacob Disease: Classic and variant. 2003-2018. p.11
Creutzfeldt-Jacob Disease, As a Rare Cause of Dementia Should Not be Forgotten: Single-Center Experience
Öz
Introduction: Dementia, which is an important public health problem, is divided into two groups as primary and secondary dementia. Creutzfeldt–Jakob disease (CJD), which is rarely seen, is a secondary cause of dementia with a rapidly progressive course. It is a fatal neurodegenerative disorder of infectious spongiform encephalopathy that can affect humans and animals. Sporadic CJD is the most common type that can present in four forms and has typical clinical presentations of progressive cognitive impairment, myoclonus, and ataxia. We aimed to discuss the demographic, clinical, and laboratory findings of CJD cases diagnosed in the neurointensive care unit. Methods: Sixteen patients were included in this retrospective study. Age, sex, complaints on admission, duration from symptom onset to mortality, neurologic examination, brain magnetic resonance imaging (MRI), electroencephalography (EEG), and the protein 14.3.3 status of the cerebrospinal fluid (CSF) were recorded. Results: The mean age was 61.18 ± 9.1 years (range, 37–73 years), and the most common complaints on admission were cognitive impairment, disturbance in consciousness, ataxia, and gait disturbance. CSF protein 14-3-3 was positive in 100% of patients. The most common findings were periodic sharp and wave complexes on EEG, cortical or putamen and caudate nucleus hyperintensity, cortical and cerebellar atrophy on MRI. One of the patients was diagnosed as variant CJD, and the others were diagnosed as the sporadic form. Conclusions: CJD should be kept in mind in patients with myoclonus or ataxia accompanied by progressive cognitive impairment. Neuroimaging, serial EEG recordings, CSF analysis, and histopathologic examination should be performed for diagnosis.
Anahtar Kelimeler
Prion diseases Creutzfeldt-Jacob disease Cognitive impairment Myoclonus Electroencephalography
Kaynakça
- 1. Green AJE. RT-QuIC: a new test for sporadic CJD. Practical Neurol 2019;19:49-55.
- 2. Feketeová E, Jarčušková D, Janáková A, Rozprávková A, Cifráková Z, Farkašová-Inaccone S et al. Creutzfeldt-Jakob Disease Surveillance in eastern Slovakia from 2004 to 2016. Cent Eur J Public Health 2018; 26 (Suppl):37–41.
- 3. Brown P, Budka H, Cervenakova L, Collie DA, Green A, Ironside JW, et al. WHO manual for surveillance of human transmissible spongiform encephalopathies including variant Creutzfeldt-Jakob disease. Geneva:WHO; 2003.p 12-3.
- 4. Brandel JP, Delasnerie-Lauprêtre N, Laplanche JL, Hauw JJ, Alpérovitch A. Diagnosis of Creutzfeldt-Jakob disease: effect of clinical criteria on incidence estimates. Neurology 2000;54(5):1095–9.
- 5. Gambetti P, Kong Q, Zou W, Parchi P, Chen SG. Sporadic and familial CJD: classification and characterisation. Br Med Bull 2003;66:213–39
- 6. Johnson DY, Dunkelberger DL, Henry M, Haman A, Greicius MD, Wong K et al. Sporadic Jakob-Creutzfeldt disease presenting as primary progressive aphasia. JAMA Neurol. 2013;70(2):254-7. doi:10.1001/2013.jamaneurol.139
- 7. Pocchiari M, Puopolo M, Croes EA, Budka H, Gelpi E, Collins S, et al. Predictors of survival in sporadic Creutzfeldt-Jakob disease and other human transmissible spongiform encephalopathies. Brain. 2004;127(pt 10):2348-59. doi:10.1093/brain/awh249
- 8. Mackenzie G, Will R. Creutzfeldt-Jacob disease: recent developments. F1000Res 2017;6:2053. doi: 10.12688/f1000research.12681.1
- 9. Collie DA, Sellar RJ, Zeidler M, Colchester AC, Knight R, Will RG, et al. MRI of Creutzfeldt-Jakob disease: imaging features and recommended MRI protocol. Clin Radiol 2001; 56:726.
- 10. Geschwind MD. Prion diseases. Continuum. 2015;21: 1612–38.
- 11. Dervaux A, Vicart S, Lopes F, Le Borgne MH. Psychiatric manifestations of a new variant of Creutzfeldt-Jakob disease. Apropros of a case. Encephale. 2001;27:194–7.
- 12. Ukisu R, Kushihashi T, Kitanosono T, Fujisawa H, Takenaka H, Ohgiya Y, et al. Serial diffusion-weighted MRI of Creutzfeldt-Jakob disease. AJR Am J Roentgenol 2005; 184:560.
- 13. Bavis J, Reynolds P, Tegeler C, Clark P. Asymmetric neuroimaging in Creutzfeldt-Jakob disease: a ruse. J Neuroimaging 2003; 13:376
- 14. Steinhoff BJ, Zerr I, Glatting M, Schulz-Schaeffer W, Poser S, Kretzschmar HA. Diagnostic value of periodic complexes in Creutzfeldt-Jakob disease. Ann Neurol 2004; 56:702.
- 15. Hansen HC, Zschocke S, Sturenburg HJ, Kunze K. Clinical changes and EEG patterns preceding the onset of periodic sharp wave complexes in Creutzfeldt‐Jakob disease. Acta Neurol Scand. 1998;97:99‐106.
- 16. Appel S, Cohen OS, Chapman J, Gilat S, Rosenmann H, Nitsan Z. The associaon of quantitative EEG and MRI in Creutzfeldt-Jacob Disease. Acta Neurol Scand 2019; 140:366-71.
- 17. Collins SJ, Sanchez-Juan P, Masters CL, Klug GM, van Duijn C, Poleggi A, et al. Determinants of diagnostic investigation sensitivities across the clinical spectrum of sporadic Creutzfeldt-Jakob disease. Brain 2006; 129:2278.
- 18. Bortone E, Bettoni L, Giorgi C, Terzano MG, Trabattoni GR, Mancia D. Reliability of EEG in the diagnosis of Creutzfeldt-Jakob disease. Electroencephalogr Clin Neurophysiol 1994; 90:323.
- 19. Na DL, Suh CK, Choi SH, Moon HS, Seo DW, Kim SE, et al. Diffusion‐weighted magnetic resonance imaging in probable Creutzfeldt‐Jakob disease: a clinical‐ana‐ tomic correlation. Arch Neurol. 1999;56:951‐7.
- 20. Mizobuchi M, Tanaka C, Sako K, Nihira A, Abe T, Shirasawa A. Correlation between periodic sharp wave complexes and diffusion‐ weighted magnetic resonance images in early stage of Creutzfeldt‐ Jakob disease: a report of two cases. Seizure. 2008;17:717‐22.
- 21. Zanusso G, Fiorini M, Farinazzo A, Gelati M, Benedetti MD, Ferrari S, et al. Phosphorylated 14-3-3zeta protein in the CSF of neuroleptic-treated patients. Neurology 2005; 64:1618.
- 22. Satoh J, Kurohara K, Yukitake M, Kuroda Y. The 14-3-3 protein detectable in the cerebrospinal fluid of patients with prion-unrelated neurological diseases is expressed constitutively in neurons and glial cells in culture. Eur Neurol 1999; 41:216.
- 23. Chapman T, McKeel DW Jr, Morris JC. Misleading results with the 14-3-3 assay for the diagnosis of Creutzfeldt-Jakob disease. Neurology 2000; 55:1396.
- 24. Foutz A, Appleby BS, Hamlin C, Liu X, Yang S, Cohen Y, et al. Diagnostic and prognostic value of human prion detection in cerebrospinal fluid. Ann Neurol 2017; 81:79-92.
- 25. Alberta Health and Wellness. Public Health Disease Management Guidelines. Creutzfeldt-Jacob Disease: Classic and variant. 2003-2018. p.11
Ayrıntılar
| Birincil Dil | İngilizce |
|---|---|
| Konular | İç Hastalıkları |
| Bölüm | Orijinal Makaleler |
| Yazarlar | |
| Yayımlanma Tarihi | 20 Eylül 2020 |
| Gönderilme Tarihi | 17 Nisan 2020 |
| Yayımlandığı Sayı | Yıl 2020 Cilt: 14 Sayı: 3 |
Sağlığın ve birinci basamak bakımın anlaşılmasına ve geliştirilmesine katkıda bulunacak yeni bilgilere sahip yazarların İngilizce veya Türkçe makaleleri memnuniyetle karşılanmaktadır.