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
| Autor: | Takashi Inuzuka, Hideaki Shibata, Akio Akagi, Katsuya Satoh, Tetsuyuki Kitamoto, Mari Yoshida, Akio Kimura, Takayoshi Shimohata, Yasushi Iwasaki, Yuichi Hayashi, Masahiro Waza |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Male medicine.medical_specialty Prions animal diseases Glaucoma Case Report Disease Biochemistry Creutzfeldt-Jakob Syndrome 03 medical and health sciences Cellular and Molecular Neuroscience Blindness Cortical Macular Degeneration 0302 clinical medicine Age related Ophthalmology mental disorders medicine Dementia Humans cortical blindness Ocular disease Aged 80 and over Cortical blindness business.industry ocular disease Brain Cell Biology Sporadic Creutzfeldt-Jakob disease Macular degeneration medicine.disease Creutzfeldt-Jakob disease diffusion-weighted MRI nervous system diseases elderly patient 030104 developmental biology Infectious Diseases MM2-cortical-type sporadic Creutzfeldt-Jakob disease sense organs business 030217 neurology & neurosurgery dementia |
| Zdroj: | Prion |
| ISSN: | 1933-690X 1933-6896 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|