Turgay DEMİR, Kezban ASLAN, Mehmet Taylan PEKÖZ, Mehmet BALAL, Şebnem BIÇAKCI, Meltem DEMİRKIRAN, Hacer BOZDEMİR

Tek Merkez Deneyimi: Unutulmaması Gereken Nadir Bir Demans Nedeni Olarak Creutzfeldt-Jakob Hastalığı

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

Creutzfeldt-Jacob Disease, As a Rare Cause of Dementia Should Not be Forgotten: Single-Center Experience

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.

Keywords:

Prion diseases, Creutzfeldt-Jacob disease, Cognitive impairment, Myoclonus, Electroencephalography,

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