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
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
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DOI：
10.1080/19336896.2019.1631680
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发表时间：
2019-01-01
期刊：
影响因子：
2.3
通讯作者：
Shimohata, Takayoshi
中科院分区：
文献类型：
--
作者：
Hayashi, Yuichi;Iwasaki, Yasushi;Shimohata, Takayoshi
在这里，我们报告了一个尸检证实的MM 2型皮质型散发性克雅氏病（MM 2C型sCJD）的患者，在青光眼和年龄相关性黄斑变性的过程中表现出皮质盲，并专注于早期临床诊断的困难。一位83岁的男性在皮质盲发作15个月后和进行性痴呆发作9个月后入住我院。神经系统检查发现痴呆，额叶体征，视觉障碍，吞咽困难，肌阵挛和四肢腱反射过度。弥散加权MRI（DW-MRI）显示皮质高信号主要位于双侧枕叶。PRNP基因分析显示，在密码子129处没有甲硫氨酸纯合性突变。脑脊液（CSF）检查显示14-3-3和总tau蛋白升高。症状逐渐进展，患者在发病后30个月死于吸入性肺炎。神经病理学检查显示大脑皮质广泛的大融合空泡型海绵状变化。朊蛋白（PrP）免疫染色显示血管周围和斑块型PrP沉积。我们诊断患者为MM 2C型sCJD。老年人MM 2C型sCJD合并眼部疾病的早期临床诊断存在两个困难：DW-MRI的延迟使用和眼部疾病的伴随。结论：对于单纯性痴呆或皮质性视功能障碍的患者，应进行DW-MRI检查，以早期诊断MM 2C型sCJD。
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.