Clinicopathological findings of an MM2-cortical-type sporadic Creutzfeldt-Jakob disease patient with cortical blindness during a course of glaucoma and age-related macular degeneration. Issue 1 (1st January 2019)

• Record Type: Journal Article
• Authors: Hayashi, Yuichi; Iwasaki, Yasushi; Waza, Masahiro; Shibata, Hideaki; Akagi, Akio; Kimura, Akio; Inuzuka, Takashi; Satoh, Katsuya; Kitamoto, Tetsuyuki; Yoshida, Mari; Shimohata, Takayoshi
• Is Part Of: Prion. Volume 13:Issue 1(2019)
• Page Start: 124
• Page End: 131
• Publication Date: 2019-01-01
• Subjects: Creutzfeldt-Jakob disease -- MM2-cortical-type sporadic Creutzfeldt-Jakob disease -- cortical blindness -- diffusion-weighted MRI -- elderly patient -- ocular disease -- dementia; Protein folding -- Periodicals; Prions -- Periodicals; Proteins -- Biotechnology -- Periodicals; 572.633
• DOI: 10.1080/19336896.2019.1631680
• Languages: English
• ISSNs: 1933-6896

Abstract

ABSTRACT: Here, we report an autopsy-verified patient with MM2-coritical-type sporadic Creutzfeldt-Jakob disease (MM2C-type sCJD) presenting cortical blindness during a course of glaucoma and age-related macular degeneration, and focus on the difficulties involved in early clinical diagnosis. An 83-year-old man was admitted to our hospital 15 months after the onset of cortical blindness, and 9 months after the onset of progressive dementia. Neurological examination revealed dementia, frontal signs, visual disturbance, dysphagia, myoclonus and exaggerated tendon reflexes in the four extremities. Diffusion-weighted MRI (DW-MRI) showed cortical hyperintensities predominantly in the bilateral occipital lobes. PRNP gene analysis showed no mutations with methionine homozygosity at codon 129. Cerebrospinal fluid (CSF) examination revealed elevation of 14–3-3 and total tau protein. The symptoms progressed gradually, and the patient died of aspiration pneumonia, 30 months after the onset. Neuropathological examination revealed extensive large confluent vacuole-type spongiform changes in the cerebral cortices. Prion protein (PrP) immunostaining showed perivascular and plaque-type PrP deposits. We diagnosed our patient as MM2C-type sCJD. There are two difficulties in the early clinical diagnosis of MM2C-type sCJD with ocular disease in the elderly; delayed utilization of DW-MRI, and accompaniment of ocular disease. For early diagnosis of MM2C-type sCJD, we conclude that clinician should perform DW-MRI for patients with isolated dementia or cortical visual disturbance.