Creutzfeldt Jakob’s Disease

Case History: A 70-year-old male, non-diabetic, non-hypertensive presented with acute history of sudden onset memory loss and hallucinations. No focal neurological deficit was found on clinical examination and vital parameters were stable. Patient was referred for contrast enhanced MRI brain. There was no history of trauma.

Figure 1: T2 hyperintense bilateral caudate nucleus and putamen. Mild age related cortical atrophy is seen.

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Figures 2 and 3: Diffusion restriction in bilateral caudate nucleus and putamen. Rest of the brain parenchyma appears normal.

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Figure 3

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Figure 4: FLAIR hyperintensity in bilateral caudate nucleus and putamen.

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Figure 5: No abnormal contrast enhancement in these regions and rest of the brain.

Findings: MRI revealed T2 and FLAIR hyper-intensities in bilateral caudate nucleus and putamen which revealed restriction on diffusion weighted images with low ADC values. Rest of the brain parenchyma showed changes of age related cortical atrophy. No area of abnormal contrast enhancement was seen.

Diagnosis: Creutzfeldt Jakob's disease (CJD)

Discussion: CJD is a neurological spongiform encephalopathy caused by prions that is incurable and invariably fatal. The worldwide prevalence of Creutzfeldt-Jakob disease is approximately one person in 1 million, and its annual incidence is one person in 2 million.

Rapidly progressive mental deterioration with dementia, the most characteristic clinical finding, begins within a few weeks after onset. Pyramidal and extrapyramidal symptoms develop as the disease progresses, with the appearance of periodic synchronous discharges on the electroencephalogram (EEG) and of myoclonus, both of which are characteristic features of Creutzfeldt-Jakob disease. A few months later, the akinetic mutism stage begins. Patients typically die of a respiratory tract infection within one year of the disease onset.

Progressive brain atrophy and areas of high signal intensity in the cerebral cortex, thalamus and basal ganglia are well-known features depicted on T2-weighted magnetic resonance (MR) images. However, in the early stage of disease, the appearance of the brain on T2-weighted MR images often is normal, and it may be impossible on that basis to reach a diagnosis. Diffusion-weighted imaging is a useful modality for the early diagnosis of this disease even before the characteristic periodic synchronous EEG changes.

Differentials of this disease include:
- Alzheimer disease - no diffusion abnormalities.
- Vascular dementia - multiple infarcts, but diffusion-weighted imaging abnormalities are observed only in the area of a recent infarction, and there is no diffuse cortical involvement.
- MELAS - occur in younger age, diffusion abnormalities spare the underlying white matter.
- Venous hypertensive encephalopathy - MRI may show cortical signal abnormalities and associated venous fistula if any.
- Chronic herpes simplex encephalitis - frontal and temporal lobe involvement with areas of hemorrhage.

Rozil Gandhi, DMRD, DNB
Senior fellow in Interventional Radiology
Tata Memorial Hospital, Mumbai, India