Picková Tereza, Matěj Radoslav, Bezdicek Ondrej, Keller Jiří, van der Zee Julie, Van Broeckhoven Christine, Cséfalvay Zsolt, Rusina Robert
*Department of Neurology and Centre of Clinical Neuroscience, and ‡Department of Pathology, First Faculty of Medicine, Charles University, and General University Hospital, Prague, Czech Republic Departments of †Pathology and Molecular Medicine and ††Neurology, Thomayer Hospital, Prague, Czech Republic §Department of Radiology, Na Homolce Hospital, Prague, Czech Republic ∥Department of Neurology, Third Faculty of Medicine, Charles University, Prague, Czech Republic ¶Neurodegenerative Brain Diseases group, Center for Molecular Neurology, VIB, Antwerp, Belgium #Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium **Department of Communication Disorders, Faculty of Education, Comenius University, Bratislava, Slovakia.
Cogn Behav Neurol. 2017 Mar;30(1):23-29. doi: 10.1097/WNN.0000000000000116.
We report a 44-year-old woman, with a family history of early-onset dementia, presenting with primary progressive aphasia. This clinically variable syndrome has multiple underlying pathologies, and correlations between clinical manifestations and postmortem neuropathologic findings are controversial. Our patient suffered worsening language impairment with major word-finding difficulties but preserved comprehension. She also developed episodic memory impairment. Her condition progressed to dementia with behavioral changes. Magnetic resonance imaging showed early left perisylvian and bitemporal atrophy. The patient died shortly afterward from colon cancer. Neuropathologic examination revealed advanced early-onset Alzheimer and Lewy body disease, plus a clinically nonrelevant metastasis of her colon cancer in her left parietal lobe. Genetic examination revealed a p.Glu184Asp mutation in the presenilin1 gene. Our findings confirm the importance of a thorough appreciation for the clinical and neuropathologic correlations in patients with atypical neurodegenerative dementias.
我们报告了一名44岁的女性，她有早发性痴呆家族史，表现为原发性进行性失语。这种临床症状多变的综合征有多种潜在病理情况，临床表现与死后神经病理学发现之间的相关性存在争议。我们的患者出现语言障碍加重，主要是找词困难，但理解力保留。她还出现了情景记忆障碍。她的病情进展为伴有行为改变的痴呆。磁共振成像显示早期左侧颞周和双侧颞叶萎缩。患者随后不久死于结肠癌。神经病理学检查发现晚期早发性阿尔茨海默病和路易体病，以及她结肠癌在左顶叶的一个临床上无关的转移灶。基因检查发现早老素1基因存在p.Glu184Asp突变。我们的发现证实了全面认识非典型神经退行性痴呆患者临床与神经病理学相关性的重要性。
