Objective: This case illustrates the importance of neuroimaging in any patient who presents with focal dystonia and it may be an early manifestation of a prion disease.

Background: The patient was a banker, residing in an urban area, vegetarian by diet, hypertensive and had no exposure to pets or foreign travel. No surgical, organ transplant history or family history was given. This patient presented with right upper limb dystonia for 3 months at elbow (flexion) and wrist (clenched fist and flexion at wrist) which could be partially corrected by gest maneuver applied to the elbow.The patient developed generalized bradykinesia in the form of slowing of everyday activities and development of cerebellar ataxia over the next 1 month. He concurrently developed rapidly progressive dementia with progressive dementia and died 3 months later.

Method: EEG and MRI brain with DWI were performed

Results: EEG showed generalized slowing of background activity. However, no periodic sharp wave complexes are seen. FLAIR hyperintensity was seen in the superior frontal, middle frontal, orbital frontal, medial frontal, superior parietal, supra-marginal, angular, precuneus, superior temporal, middle temporal, inferior temporal, superolateral occipital, insula (anterior and posterior), superolateral occipital, cingulate (anterior and posterior), caudate and putamen. Diffusion restriction was also seen in the corresponding regions. MRI showed diffusion restriction on DWI/ADC images more than FLAIR hyperinetnsity in cingulate, striatum and more than 1 neocortical gyrus.

Conclusion: The diagnosis of probable sporadic CJD (WHO) was made.On UCSF 2005 and 2010 proposal of MRI criteria for CJD diagnosis,the diagnosis of MRI definitely CJD was made. Such cases illustrate the importance of neuroimaging in movement disordors. It also demonstrates the benefit of high index of suspicion of the treating clinician who makes clinic-radiological correlations and provides treatment to correct symptoms and to improve the quality of life as in our case.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/cjd-presenting-as-unilateral-upper-limb-dystonia-rare-presentation-of-an-uncommon-disease/