To describe an unusually rapidly progressive course of young onset sporadic Creutzfeldt–Jakob disease (CJD)

CJD is a rapidly progressive, fatal degenerative encephalopathy caused by a pathologically altered form of the prion protein. Sporadic CJD (sCJD) is the most common form in 85-90% of all CJDs.  The mean age of onset is 65 years. The average duration of symptoms is 4-7 months in various studies. In our patient, symptom onset to presentation was 1 week and progression from symptom onset to death was 5 weeks.

We reviewed the patient's history, imaging, electrophysiologic studies, and laboratory data.

We present a case of a 44 year-old male initially admitted to another hospital with one week of new onset behavioral changes and memory impairment. Workup was notable for brain MRI showing restricted diffusion and FLAIR signal changes in the bilateral caudate and putamen.

On transfer to our institution one week later, he was noted to have impairment of orientation, attention, and language in addition to psychomotor slowing. Brain MRI showed interval development of diffusion restriction and FLAIR signal abnormalities in the left cingulate gyrus and left temporal lobe.  EEG showed moderate generalized background slowing and bi-frontal sharp waves. Malignancy screen including PET scan was negative.

The patient was treated with a course of high dose steroids. Over the course of two weeks, however, his neurologic status rapidly worsened to an akinetic-mute state with development of spontaneous myoclonic jerks. Repeat EEG showed generalized periodic epileptiform discharges. Cerebrospinal fluid showed elevated protein and positive real-time quaking-induced conversion (RT-QuIC) assay.

A diagnosis of probable sporadic CJD was made based on clinical, radiologic, electroencephalographic, and CSF findings. He passed away 5 weeks from symptom onset.

This is a case of sporadic CJD with an unusually rapid onset and fulminant disease course rarely reported in the literature.