A case of variant Creutzfeldt-Jakob disease in Romania

Abstract

In humans prion diseases can occur sporadically, through genetic mutations, or can be transmitted from animal, human (kuru disease), or iatrogenic sources. Even though transmissible forms are the most well-known, the sporadic and heritable forms are much more frequent, accounting for about 85% of all cases. The purpose of this case report is to present an atypical variant CJD in a 26 years-old woman. The patient died secondary to infectious complications caused by an acute overdose with alcohol, beta-blockers and oral anti-diabetic drugs, and had an atypical neuropathology pattern, with absent amyloid plaques, but present focal, perivascular deposits of amyloid precursor protein and a positive immunohistochemical reaction for prp.

A Rare Case of Histopathologically Confirmed Creutzfeldt–Jakob Disease from Romania, Long Route to Diagnosis—Case Report and an Overview of the Romanian CJD Situation

“…Although there should be 1–2 cases/million person/year in Romania, in the last 15 years, only 10 cases have been reported, and exclusively in scientific papers as case reports. Out of these, only 2 were reported as confirmed cases with neuropathological techniques (Ceusu et al, 2015, and Corina Roman et al, 2013) [ 8 , 9 ]; the rest, including a small case series study by Andone et al in the 1st Neurology Clinic, Mures County Emergency Hospital between 2007 and 2017 [ 10 ], were probable sCJD (2019 Catana et al, 2014 Cofoian-Amet et al, 2012 Pop et al) [ 11 , 12 , 13 ]. All cases but one published in Romania were sporadic CJD, the exception being a 26-year-old female patient who reportedly had vCJD with psychotic behavior as the onset.…”