Creutzfeldt-Jacob disease

Clinical History

50-year-old female patient presented with progressive dementia, worsening psychiatric symptoms and tremors of two months duration. She was also ataxic. No history of fever, exposure to toxins or any metabolic abnormality. Biochemical investigations were unremarkable. Initial CT at a local hospital showed only cerebral atrophy. Her condition deteriorated rapidly.

Imaging Findings

There was bilateral and symmetrical uniformly high signal intensity in caudate nuclei, putamina on T2 weighted and FLAIR images. These was low signal on T1 weighted images. Moderate restriction was seen on diffusion weighted images.
Medial frontal cortex and occipital cortex showed subtle hyperintensity on FLAIR.
Thalami and globus pallidus were spared.
Prominent sulci and gyri basal cisterns were present indicating cerebral atrophy.
No abnormal signal intensities were seen in pons and brain stem.

Discussion

Creutzfeldt-Jakob disease (CJD) is a rapidly progressing, fatal neurodegenerative disease caused by an accumulation of abnormal prion proteins in the brain. The patients usually present with worsening dementia, myoclonic movements, cerebellar signs and akinetic mutism. [1] There are two varieties of CJD, i.e. The variant type (vCJD) which affects young people mainly in Europe and the commoner sporadic type (sCJD) which affects older people occurring universally, contributing to about 85% of all CJD cases. The diagnosis is generally made based on clinical findings, characteristic EEG wave pattern and MRI findings. The definitive demonstration of prion protein in the brain requires biopsy or necropsy. [2]
The MRI findings are also important and the findings differ between sCJD and vCJD. The hallmark of sCJD is bilateral and symmetrical T2 hyperintensity in caudate nuclei and putamina of lentiform nuclei. Similar high signals can also be appreciated on FLAIR and Proton Density images. Diffusion restriction is seen on DW images. The thalami and the cortex are sometimes involved but this is less common than the basal ganglia involvement. vCJD in contrast shows T2 high signal of the posterior thalami (pulvinar) which is more marked than in putamina and caudate nuclei. This is known as the “Pulvinar sign”. [2, 3] Some studies have shown that diffusion weighted sequences are more useful in demonstrating the signal changes in basal ganglia and thalami in CJD. [4]
These MRI findings are known to overlap with other entities such as hypoxia, CO poisoning, Wilson's disease, Extrapontine myelinolysis, Leigh's disease etc. [3, 5] However, in a proper clinical setting and in the presence of characteristic triphasic spikes on Electroencephalogram (EEG), the diagnosis of CJD can be confidently made.
The diagnosis of sCJD in our patient was made based on the clinical presentation, typical EEG findings and compatible MRI appearances. She rapidly deteriorated and died 2 weeks after hospitalization.

Differential Diagnosis List

Final Diagnosis

Creutzfeldt-Jacob disease (Sporadic Type - sCJD)

URL:	https://www.eurorad.org/case/12158
DOI:	10.1594/EURORAD/CASE.12158
ISSN:	1563-4086