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.

在这里，我们报道了一名经过尸检验证的MM2急性发作型偶发性Creutzfeldt-Jakob病（MM2C型sCJD），在青光眼和年龄相关性黄斑变性的过程中表现出皮质失明，并着重于早期临床所涉及的困难诊断。一名皮质盲致盲发作后15个月和进行性痴呆发作后9个月，一名83岁的男子被送入我们的医院。神经学检查发现四个肢体有痴呆，额叶体征，视力障碍，吞咽困难，肌阵挛和腱反射过度。弥散加权MRI（DW-MRI）显示皮质高信号主要发生在双侧枕叶。PRNP基因分析显示第129位密码子无甲硫氨酸纯合突变。脑脊液（CSF）检查显示14–3-3和总tau蛋白升高。症状逐渐发作，发病后30个月，患者死于吸入性肺炎。神经病理学检查显示大脑皮质广泛的大融合液泡型海绵状变化。Prion蛋白（PrP）免疫染色显示血管周围和斑块型PrP沉积物。我们将患者诊断为MM2C型sCJD。MM2C型sCJD合并老年人眼病的早期临床诊断存在两个困难。DW-MRI的使用延迟，并伴有眼部疾病。为了早期诊断MM2C型sCJD，