30 year old woman with possible Creutzfeldt-Jakob Disease initially presenting with psychiatric symptoms: a case report

Background

Creutzfeldt-Jakob disease is a rare neurodegenerative disorder that belongs to the so called transmissible spongiform encephalopathies. Four types of the disease are recognized today: The sporadic form, responsible for over 80% of all cases, the familial, responsible for about 10% of cases, the iatrogenic and finally the variant form.

Materials and methods

We report a case of a thirty year old female Caucasian woman initially presenting with psychiatric symptoms.

Results

The patient's problems had begun six months prior to hospital admission with symptoms of disorientation in place and time and behavioral disturbances. She was treated initially as a psychiatric outpatient receiving medication. After 4 months of unsuccessful treatment she was hospitalized and subjected to 16 E.C.T. sessions. About 2 months after E.C.T., the patient was admitted to our hospital with neurological symtomatology (gait and speech disturbances). Biochemical examination, E.E.G and lumbar puncture (including protein 14-3-3 assay) were inconclusive, while brain MRI revealed brain atrophy and high signal intensity in the region of basal ganglia, imaging suggestive of Creutzfeldt-Jakob Disease. 22 months after initial presentation the patient is in a state of akinetic mutism.

Conclusions

To our knowledge this is the first report presenting in Greece concerning possible Creutzfeldt-Jakob Disease in such a young person. The initial presentation with pure psychiatric symptoms is also of interest, while the time elapsed since the presentation of neurological symtomatology is considered to be quite long.