An enigmatic case of cortical anopsia: Antemortem diagnosis of a 14-3-3 negative Heidenhain-variant MM1-sCJD

Abstract

Sporadic Creutzfeldt-Jakob disease is the predominant type of human prion disease. While routine diagnostic in phenotypic cases has advanced considerably, the clinical heterogeneity and rarity of subtypes continue to constitute a major clinical and diagnostic challenge. Here, we report a peculiar case of the Heidenhain-variant of MM1 sporadic Creutzfeldt-Jakob disease presenting as a stroke mimic in an 81-year-old patient with a rapid and clinically distinct course of disease as compared to previously reported cases. While 14-3-3 protein was negative, clinical findings substantiated by 18^F-FDG-PET imaging and RT-QuIC-Assay were able to establish the diagnosis. We conclude that in cases presenting with rapid progressive dementia secondary to sudden cortical anopsia the Heidenhain-variant of CJD should be considered.

Keywords: Creutzfeld-Jakob disease; FDG-PET; Heidenhain; MM1; RT-QuIC; stroke.

Figure 1.

MRI-DWI (left), ADC-map (middle) and ¹⁸F-FDG-PET (right) imaging of parietooccipital cortex. MRI imaging showed hyperintense signals in the left occipitoparietal cortex in diffusion-weighted imaging with correlating hypointense signals in the ADC-map. The same area presents hypometabolic in 18^F-FDG-PET imaging.

Figure 2.

Result of the RT-QuIC assay. All graphs display fluorescence intensity in relative fluorescence units (RFU) on vertical over horizontal time axis in hours. RT-QuIC of patient samples is displayed in graph A, graph B shows the curve of the positive control and graph C of the negative control, respectively. An increase of fluorescence during reaction above the cut-off of 10,000 RFU is considered a positive result.