Creutzfeldt Jakob disease (CJD)

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Creutzfeldt Jakob disease

What are the symptoms of Creutzfeldt Jakob disease (CJD)?

Early stages of CJD are characterized by behavioral change with hallucinations and agitation followed by ataxia and visual disturbance.

The disease progresses rapidly over several weeks and almost invariably patients develop myoclonus triggered by startle response.

Patients continue to deteriorate rapidly into stupor and coma. 

What diagnostic tests recommended in Creutzfeldt Jakob disease? 

Characteristic electroencephalogram (EEG) patterns initially show diffuse nonspecific slowing, which progresses to high-voltage slow and sharp wave complexes on an increasingly slow and low-voltage background.

Imaging is of little diagnostic aid, and routine CSF and serum laboratory tests are normal.

Although commonly used, the 14-3-3 protein is of uncertain sensitivity and specificity because it is elevated in many destructive lesions of the gray matter. MRI of the brain is more specific in the proper clinical context, showing restricted diffusion of the cortical ribbon and/or of the deep gray nuclei.

Variant CJD may result in the “pulvinar” sign with restricted diffusion of the pulvinar nucleus of the thalamus.

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