Context: The Creutzfeldt-Jakob disease (CJd) is a rare spongiform encephalopathy caused by a prion. In clinical practice the presence of 14- 3-3 protein can be a insensitive marker of sporadic CJd, well as absent for genetic CJd and new variantes, being susceptible to false negatives. Case report: V.L, male, 57 years old, previously rigid, who presented na insidious picture of memory loss and a progressive functional decline for one month and a half. On admission, he was alert, non-contacting, with evidente myoclonus in the upper and lower members and spasticity in lower members. The picture is compatible with rapidly progressive dementia, and the hypothesis of CJd was suggested. The skull CT showed microangiopathy. Clean looking CSF, negative bacteroscopy, non-reactive VDRL, negative nanquim exam and missing 14-3-3 protein search. EEG recorded abnormal rhythm secondary to moderate diffuse and persistente encouragement of fund activity, indicating mild diffuse brain dysfunction, possibly encephalopatic. Skull MRI, signs of restriction and diffusion compromising the caudate nucleus of the putamen bilaterally and symmetrically, and the parietal córtex, predominantly the left, compatible with CJd. Patient had normal thyroid function and hypovitaminosis of mild B12, corrected with intramuscular injection. Evolved in 25 days to akinetic mutism and died in one month due to bronchial aspiration pneumonia. Conclusions: The CJd is a pathology difficult to diagnose, the 14-3-3 protein research is subject to bias, the clinical and radiological findings strongly indicate CJd.
Familial Creutzfeldt-Jakob Disease: Case report and role of genetic counseling in post mortem testing
