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

• Published in: Prion 2019-01, Vol.13 (1), p.124-131
• Main Authors: Hayashi, Yuichi, Iwasaki, Yasushi, Waza, Masahiro, Shibata, Hideaki, Akagi, Akio, Kimura, Akio, Inuzuka, Takashi, Satoh, Katsuya, Kitamoto, Tetsuyuki, Yoshida, Mari, Shimohata, Takayoshi
• Format: Article
• Language: English
• Subjects: Aged, 80 and over; Blindness, Cortical - complications; Blindness, Cortical - pathology; Brain - pathology; Case Report; Creutzfeldt-Jakob Syndrome - complications; Creutzfeldt-Jakob Syndrome - pathology; Glaucoma - complications; Glaucoma - pathology; Humans; Macular Degeneration - complications; Macular Degeneration - pathology; Male; Prions - analysis
• ISSN: 1933-6896; 1933-690X
• DOI: 10.1080/19336896.2019.1631680

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. 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.