A 52-years-old Caucasian male with well-controlled HIV came to the emergency department presenting progressive imbalance, motor and cognitive deterioration and hypersomnia. Before being referred, he was evaluated by a psychiatrist who prescribed neuroleptics. On admission, he was in a state of mutism and did not obey to commands, although there were no vital signs abnormalities, meningism or focal motor deficit. His motor examination showed global deep tendon hyperreflexia and increased tone in all extremities with intermittent myoclonus.
Recent CD4 count was 495 microL-1 and HIV-1 RNA was undetectable. Initial laboratory work-up was unremarkable. Serum cryptococcal antigen, Toxoplasma IgM, Cytomegalovirus IgM, Herpes I and II and fluorescent treponemal antibody-absorption test (FTA-ABS) for syphilis were negative. Routine CSF analysis was normal: total protein 30 mg/dL, glucose 59 mg/dL (serum glucose, 80 mg/dL), 5 red blood cells, and 3 mononucleated cells. Opening pressure was 160 mmH2O. CSF polymerase chain reaction for herpes simplex virus, cytomegalovirus, tuberculosis, and JCV were negative, as well as VDRL, cryptococcal antigen and bacterial and fungal cultures.
Diffusion-weighted brain MRI showed cortical gyriform restriction on both hemispheres and on both caudate nuclei (Figure 1). EEG showed 1 Hz triphasic periodic sharp wave complexes (PSWC) (Figure 2) and CSF 14-3-3 protein level was elevated (77,849 AU/mL; reference value: <20,000 AU/mL). The combination of rapidly progressive mental state and motor deterioration and typical CSF, radiographic, and electroencephalographic features pointed to probable CJD according to CDC's criteria. The patient died after 2 months of hospitalization from respiratory sepsis.