PT  - JOURNAL ARTICLE
AU  - Claire Boutoleau-Bretonnière
AU  - Amandine Pallardy
TI  - Down syndrome with posterior cortical atrophy
AID  - 10.1136/bcr-2017-223108
DP  - 2018 Feb 08
TA  - BMJ Case Reports
PG  - bcr-2017-223108
VI  - 2018
4099  - http://casereports.bmj.com/content/2018/bcr-2017-223108.short
4100  - http://casereports.bmj.com/content/2018/bcr-2017-223108.full
AB  - 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.