Creutzfeldt-Jacob disease -Teaching Points

50 year old male patient presented with classical triad of progressive dementia / myoclonus with EEG showing periodic sharp waves. MRI suggest variant form of CJD (Creutzfeldt-Jacob disease  )  with posterior ( pulvinar ) and medial thalami / periaqueductal gray matter / striatum / subtle involvement of the neocortex showing restricted diffusion with reduced ADC values and T2/FLAIR hyperintensities.  Case submitted by: Dr.M.G.K.Murthy, Abdul Hamed,  Bollinar narsimhulu

Teaching points:-

Rare Prion disease of slow virus variety.

Classical triad as mentioned is seen only in 25% of the cases. Ataxia could represent dominant feature. WHO suggest the diagnostic criteria of 14-3-3 in CSF, which however is not easily available.

MRI has emerged as possible diagnostic criterion of late. MRI is also expected to suggest differentiating sporadic from the variant varieties.

Sporadic shows corpus striatal / neocortex / posterior medial thalami restricted diffusion along with T2/FLAIR hyperintensities.

The variant variety suggest posterior ( Pulvinar ) and medial thalami / periaqueductal gray matter / striatal involvement with less of neocortex involvement.

Pulvinar sign is suggested when there is increased pulvinar signal as compared to the anterior putamen. Hockey stick sign is suggested when there is additional involvement of dorsomedial thalamic nuclei.

Pathology of DW finding is accumulation of abnormal vacuoles in the cytoplasm and the microvacuolation of neuritic processes heralding spongiform degeneration. Hyperintensities in T2WI and PD correlate with spongiosis in basal ganglia structures, neuronal loss and gliosis