Heidenhain Variant of Creutzfeldtjakob Disease: Diffusion-Weighted MRI and PET Characteristics

Abstract

Creutzfeldt-Jakob disease (CJD) is characterized by rapidly progressive dementia with a variety of neurological disorders and a fatal outcome. The authors present a case with visual disturbance as a leading symptom and rapid deterioration in global cognitive functions. The cerebrospinal fluid was positive for 14-3-3 protein, and diffusion-weighted magnetic resonance imaging (MRI) showed marked hyperintensity in the parieto-occipital cortices, where hypometabolism was clearly detected on positron emission tomography (PET). Pattern-reversal visual evoked potentials showed prolonged P100 latencies and increased N/5/P100 amplitudes. All these findings supported a diagnosis of the Heidenhain variant of CJD, whereas a long clinical course, a lack of myoclonus, and an absence of periodic synchronous discharges on electroencephalography were atypical. Diffusion-weighted MRI and PE1 in combination with visual evoked potential recording and 14-3-3 protein detection may be useful for the early diagnosis of CJD.

The imaging appearance of Creutzfeldt–Jakob disease caused by the E200K mutation

“…DWI is emerging as a promising and sensitive MR technique, with some studies suggesting that DWI has greater sensitivity to CJD changes than other techniques [10,13,14,40 -42]. DWI might provide the primary imaging clues of CJD [6,11,12,14,43], although DWI is occasionally negative even in pathologically proven CJD [44,45].…”

Alexia without agraphia in Creutzfeldt–Jakob disease

“…One report mentioned alexia as part of a pervasive disorder including Gerstmann syndrome and dressing apraxia [9]. Mathews and Unwin described a patient consistent with CJD who "could not read things he had just written" [10].…”

Imaging and EEG findings of Rare Heidenhain Variant of Creutzfeldt-Jakob Disease

“…Our patient had the classic cortical ribboning, however his MRI findings had the strongest signal changes in the occipital region (consistent with the Heidenhain variant), with notable absence of any basal ganglia changes. Other case reports on imaging in the Heidenhain variant support the increase occipital enhancement on DWI as well as hypometabolism on positron emission testing [3,17,18].…”