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

Yuichi Hayashi, Yasushi Iwasaki, Masahiro Waza, Hideaki Shibata, Akio Akagi, Akio Kimura, Takashi Inuzuka, Katsuya Satoh, Tetsuyuki Kitamoto, Mari Yoshida, Takayoshi Shimohata

Research output: Contribution to journalArticlepeer-review

4 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)124-131
Number of pages8
JournalPrion
Volume13
Issue number1
DOIs
Publication statusPublished - 2019 Jan 1

Keywords

  • Creutzfeldt-Jakob disease
  • MM2-cortical-type sporadic Creutzfeldt-Jakob disease
  • cortical blindness
  • dementia
  • diffusion-weighted MRI
  • elderly patient
  • ocular disease

ASJC Scopus subject areas

  • Biochemistry
  • Cellular and Molecular Neuroscience
  • Cell Biology
  • Infectious Diseases

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