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Creutzfeldt-Jakob disease

Case contributed by Ryan Thibodeau
Diagnosis certain

Presentation

Concern for acute encephalopathy. Confusion and left upper and lower extremity deficits.

Patient Data

Age: 65 years
Gender: Male
mri

Fat-containing lesion within the suprasellar cistern, likely presenting small dermoid measuring 8 x 13 x 10 mm (TR x AP x CC).

Abnormal cortical reduced diffusivity seen predominantly along the right cerebral hemisphere. There are punctate foci of abnormal increased T2/FLAIR signal involving right superior frontal gyrus and left frontal lobe laterally.

There is also abnormal reduced diffusivity involving bilateral caudate nuclei and putamen. Both caudate nuclei and putamen demonstrate slight increased T2/FLAIR signal.

There is no abnormal enhancement.

Case Discussion

This is a case of Creutzfeldt-Jakob disease. The clinical symptoms of a rapidly declining dementia prompted an MRI, which revealed cortical, caudate, and putamen reduced diffusivity. A lumbar puncture was performed and cerebrospinal fluid was sent for analysis. T tau protein was >20,000 pg/mL (reference: 0-1149 pg/mL) and 14-3-3 protein was positive. The patient was placed on comfort care.

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