Three cases of Heidenhain variant of Creutzfelt-Jakob disease with pruritus：clinical analysis and litera-ture review / 中国神经精神疾病杂志

ABSTRACT

Objective To analyze features of clinical manifestation, laboratory tests, electrophysiology and imagol?ogy of Heidenhain’s variant of Creutzfelt-Jakob disease (CJD). Methods Clinical data, laboratory and electrophysiologi?cal results as well as medical images were collected from 3 patients with Heidenhain variant of CJD. Results Three pa?tients presented with rapid visual impairment at onset and refractory pruritus. Whole gene sequencing indicated that one patient had point mutation at E200K whereas the other two did not the mutation. All the cases had positive 14-3-3 pro?tein in CSF. Patients had three phases sharp waves burst at posterior part of cerebral cortices with slow waves back?ground in EEG, no evoked P100 in visual evoked potential test,‘cortical ribbon sign’at bilateral occipital lobe in DWI sequence of head MRI and hypometabolism of glucose from occipital cortex spreading to extensive cerebral cortices in PET/CT. Conclusion Head MRI and EEG should be conducted in old patients with visual disturbance as the onset symptom, followed by rapid cognitive impairment, ataxia and extrapyramidal symptom to rule out Heidenhain variant of CJD. Refractory pruritus indicates a high likelihood of CJD.