Marques Inês B, Tábuas-Pereira Miguel, Milheiro Miguel, Santana Isabel
Department of Neurology, Coimbra University Hospital, Coimbra, Portugal.
Department of Neurology, Hospital de Faro, Faro, Portugal.
BMJ Case Rep. 2015 Jan 5;2015:bcr2014207011. doi: 10.1136/bcr-2014-207011.
Alzheimer's disease (AD) is a clinically heterogeneous disease that may have atypical presentations with focal cortical syndromes and relatively preserved episodic memory. The posterior variant of AD has two subtypes: occipitotemporal, presenting with visuoperceptive impairment, and biparietal, presenting with visuospatial dysfunction and apraxia. We report a case of a 51-year-old woman with progressive limb apraxia and choreiform movements. Her neuropsychological evaluation was compatible with dementia, and revealed ideomotor and ideational limb apraxia, severe visuoconstructive ability impairment, dyscalculia and posterior aphasia. Workup excluded metabolic, infectious, inflammatory or neoplastic causes, and hereditary conditions as Huntington's disease and familial AD. Cerebrospinal fluid biomarkers revealed β-amyloid reduction and τ protein increase. Brain imaging showed marked biparietal atrophy and hypoperfusion, and widespread cortical β-amyloid deposition. Biparietal variant of AD was diagnosed and acetylcholinesterase inhibitor treatment induced clinical stabilisation. AD may present with atypical features and a high clinical suspicion is necessary for an early diagnosis.
阿尔茨海默病(AD)是一种临床异质性疾病,可能具有非典型表现,伴有局灶性皮质综合征且情景记忆相对保留。AD的后变异型有两种亚型:枕颞型,表现为视觉感知障碍;双顶叶型,表现为视觉空间功能障碍和失用症。我们报告一例51岁女性,患有进行性肢体失用症和舞蹈样动作。她的神经心理学评估结果与痴呆相符,显示观念运动性和观念性肢体失用症、严重的视觉构建能力损害、计算障碍和后部失语。检查排除了代谢、感染、炎症或肿瘤性病因以及如亨廷顿病和家族性AD等遗传性疾病。脑脊液生物标志物显示β-淀粉样蛋白减少和τ蛋白增加。脑部影像学显示明显的双顶叶萎缩和灌注不足,以及广泛的皮质β-淀粉样蛋白沉积。诊断为AD双顶叶变异型,乙酰胆碱酯酶抑制剂治疗使病情临床稳定。AD可能表现出非典型特征,早期诊断需要高度的临床怀疑。