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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.
- Source :
-
Prion [Prion] 2019 Jan; Vol. 13 (1), pp. 124-131. - Publication Year :
- 2019
-
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.
- Subjects :
- Aged, 80 and over
Blindness, Cortical pathology
Brain pathology
Creutzfeldt-Jakob Syndrome pathology
Glaucoma pathology
Humans
Macular Degeneration pathology
Male
Prions analysis
Blindness, Cortical complications
Creutzfeldt-Jakob Syndrome complications
Glaucoma complications
Macular Degeneration complications
Subjects
Details
- Language :
- English
- ISSN :
- 1933-690X
- Volume :
- 13
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Prion
- Publication Type :
- Academic Journal
- Accession number :
- 31219399
- Full Text :
- https://doi.org/10.1080/19336896.2019.1631680