Boutoleau-Bretonnière Claire, Pallardy Amandine
CHU de Nantes, CMRR Neurologie, Nantes, France.
CHU de Nantes, Service de Médecine Nucléaire, Nantes, France.
BMJ Case Rep. 2018 Feb 8;2018:bcr-2017-223108. doi: 10.1136/bcr-2017-223108.
Down syndrome (DS) is caused by trisomy of chromosome 21. The average age of onset of Alzheimer's disease (AD) ranged from 50 to 55 years in DS, with early symptoms usually characterised by changes in behaviour and executive dysfunction. On the other hand, posterior cortical atrophy (PCA) is a rare neurodegenerative syndrome characterised by progressive impairment of visual functions in the absence of visual deficits and a pattern of atrophy involving posterior cortex. This syndrome is mostly caused by AD pathology. We report the case of patient with DS who developed PCA. While atypical variants of AD are commonly associated with an early age at onset, all focal forms of AD may potentially appear in DS. Specifying the phenotype has an impact on the care of DS patients and could help us to know the evolution. It could also provide a better understanding of the underlying mechanisms of focal forms.
唐氏综合征（DS）由21号染色体三体性引起。在唐氏综合征患者中，阿尔茨海默病（AD）的平均发病年龄在50至55岁之间，早期症状通常以行为改变和执行功能障碍为特征。另一方面，后部皮质萎缩（PCA）是一种罕见的神经退行性综合征，其特征是在没有视力缺陷的情况下视觉功能进行性受损，以及涉及后部皮质的萎缩模式。这种综合征主要由AD病理引起。我们报告了一例患有唐氏综合征并发生后部皮质萎缩的患者。虽然AD的非典型变体通常与早发年龄相关，但AD的所有局灶性形式都可能出现在唐氏综合征患者中。明确表型对唐氏综合征患者的护理有影响，并有助于我们了解其病情发展。这也可以更好地理解局灶性形式的潜在机制。
