title: Sporadic Creutzfeldt-Jakob disease in a native Puerto Rican patient.
abstract: The diagnosis of Creutzfeldt-Jakob disease (CJD) is often a challenge for most physicians given its extremely low incidence and different clinico-pathological presentations. We report the case of a 56-year old patient native to Puerto Rico suspected of sporadic Creutzfeldt-Jakob disease (sCD). The symptoms at onset were notorious for bilateral cortical blindness followed by rapidly progressive cognitive decline, visual deficit, increased levels of CSF 14-3-3 and tau along with positive brain MRI and EEG, are highly indicative of CJD. The definite diagnosis was confirmed by the National Prion Disease Pathology Surveillance Center (NPDPSC), in Cleveland, Ohio, USA. Lack of genetic mutations in the prion protein (PrP) gene, widespread histopathological changes and the accumulation of scrapie PrP (PrPSc) in the brain confirmed the diagnosis of sCJD. The patient, admitted to our institution in 2011, represents the first detailed report of sCJD in a native Puerto Rican patient living in Puerto Rico.
authors: Esteban A
authors: EA
authors: Del Pilar-Morales
authors: Ignazio
authors: I
authors: Cali
authors: Javier
authors: J
authors: Chapas
authors: Jorge
authors: J
authors: Bertrán-Pasarell
authors: Gianfranco
authors: G
authors: Puoti
authors: Pierluigi
authors: P
authors: Gambetti
authors: Ulises
authors: U
authors: Nobo
mesh_terms: D001921:Brain / Q000503:physiopathology*; D007562:Creutzfeldt-Jakob Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D004569:Electroencephalography; D005260:Female; D006630:Hispanic or Latino; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D018620:PrPSc Proteins / Q000378:metabolism*; D011328:Prions / Q000235:genetics; D011647:Puerto Rico
chemical_list: D018620:PrPSc Proteins; D011328:Prions