title: [Patient with Creutzfeld-Jakob disease - a case report].
abstract: Creutzfeldt-Jakob disease (CJD) is a rare syndrome of central nervous system caused by infectious protein called prion. There are four types of CJD: sporadic (sCJD), familial (fCJD), jatrogenic (jCJD) and variant (vCJD). The most frequent symptoms are rapidly progressing dementia, mioclonias, akinetic mutism and signs of cerebellum dysfunction. In sCJD, MRI often shows high signal intensity in the putamen and caudate nucleus on T2-weighted images while in vCJD pulvinar sign is often observed. 70% patients with CJD often has characteristic generalized periodic sharp wave pattern in electroencephalography. In case of 90% patients with CJD 14-3-3 protein is present in cerebrospinal fluid. Neuropathological studies play an important role in disease diagnosis. CJD incidence is 0.5-1 on 1000000 people but some cases can be undiagnosed. Presented study is a description of woman with sCJD confirmed with histopathological study. Since childhood patient had psychotic symptoms and behavior disturbances. Patient wasn't diagnosed due to this symptoms. Few months before admission to hospital her condition was getting worse. Symptoms of cerebellum, pyramidal and extrapyramidal system occurred. In cerebrospinal fluid 14-3-3 protein was detected. In EEG and MRI changes specific for sCJD was observed. After three months patient died.
authors.affiliation: Department of Neurology, Central Clinical Hospital of the Ministry of National Defense, Military Institute of Medicine, Warsaw, Poland.
authors.forename: Żanna
authors.initials: Ż
authors.lastname: Pastuszak
authors.affiliation: Department of Neurology, Central Clinical Hospital of the Ministry of National Defense, Military Institute of Medicine, Warsaw, Poland.
authors.forename: Kazimierz
authors.initials: K
authors.lastname: Tomczykiewicz
authors.affiliation: Department of Neurology, Central Clinical Hospital of the Ministry of National Defense, Military Institute of Medicine, Warsaw, Poland.
authors.forename: Adam
authors.initials: A
authors.lastname: Stępień
authors.affiliation: Department of Neurology, Central Clinical Hospital of the Ministry of National Defense, Military Institute of Medicine, Warsaw, Poland.
authors.forename: Renata
authors.initials: R
authors.lastname: Piusińska-Macoch
authors.affiliation: Department of Neurology, Central Clinical Hospital of the Ministry of National Defense, Military Institute of Medicine, Warsaw, Poland.
authors.forename: Joanna
authors.initials: J
authors.lastname: Klimczuk
authors.affiliation: Department of Neurology, Specialized Regional Hospital, Ciechanów, Poland.
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Rolewska
authors.affiliation: Department of Neurology, Specialized Regional Hospital, Ciechanów, Poland.
authors.forename: Dariusz
authors.initials: D
authors.lastname: Galbarczyk
mesh_terms: D048948:14-3-3 Proteins / Q000134:cerebrospinal fluid*; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology*; D007562:Creutzfeldt-Jakob Syndrome / Q000134:cerebrospinal fluid / Q000175:diagnosis / Q000473:pathology*; D004569:Electroencephalography; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008875:Middle Aged
chemical_list: D048948:14-3-3 Proteins
keywords: 14-3-3 protein; Creutzfeldt-Jakob disease; EEG study; MRI study