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Diaschisis as the Presenting Feature in Sporadic Creutzfeldt-Jakob Disease

Daryl Wile, MD; Harinder Dhaliwal, MBBS; Justyna R. Sarna, MD, PhD; Christine P. Molnar, MD; James N. Scott, MD; Fiona Costello, MD; Sarah Furtado, MD, PhD; Jeffrey T. Joseph, MD, PhD
JAMA Neurol. 2013;70(3):408-409. doi:10.1001/jamaneurol.2013.590.
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A 71-year-old man presented with 6 weeks of progressive left-hand incoordination, gait unsteadiness, dysarthria, left facial weakness, and left-sided myoclonus. Examination also demonstrated slowed verbal responses, ideomotor apraxia, and hypometric saccades with a wide-based, unsteady gait and rigidity, marked dysmetria, and intention tremor of the left arm and leg.

Magnetic resonance imaging (MRI) of the brain showed diffusion restriction in the right frontal, parietal, occipital, and superior temporal lobes; the left parietal lobe; and the right caudate head. Fludeoxyglucose positron emission tomography (FDG-PET) imaging was undertaken to reconcile the normal MRI appearance of the cerebellum with its prominent clinical dysfunction. Hypometabolism was evident in the areas of cerebral diffusion restriction and in the left cerebellum (Figure 1). Cerebrospinal fluid was positive for 14-3-3 protein, supporting the diagnosis of Creutzfeldt-Jakob disease. The patient progressively deteriorated and died in hospice 1 month after presentation.

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Figure 1. Cerebral (A) and cerebellar (C) diffusion-weighted magnetic resonance images; note the right-sided cerebral cortical diffusion restriction (A) with normal appearance of the cerebellum. Fludeoxyglucose positron emission tomography hypometabolism corresponds to areas of cerebral cortical diffusion restriction (B) but is also evident in the left cerebellum (D).

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Figure 2. The right cerebral hemisphere (A and D) shows spongiform change corresponding to cerebral diffusion restriction and hypometabolism. There is minimal spongiform change in the left hemisphere (B and E) and bilaterally in the cerebellum (C, F, and G). A-C, Hematoxylin-eosin with the green RGB channel digitally isolated and inverted to show spongiform change as black dots. D-G, Areas marked by white arrows in A-C (hematoxylin-eosin, original magnification ×4). D and E, inset views, hematoxylin-eosin (original magnification ×20). The left hemisphere did show some spongiform change (black arrow, B).

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