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BMJ Case Reports 2018; doi:10.1136/bcr-2017-223108
  • Unusual association of diseases/symptoms
  • CASE REPORT

Down syndrome with posterior cortical atrophy

  1. Amandine Pallardy2
  1. 1CHU de Nantes, CMRR Neurologie, Nantes, France
  2. 2CHU de Nantes, Service de Médecine Nucléaire, Nantes, France
  1. Correspondence to Dr Claire Boutoleau-Bretonnière, claire.boutoleaubretonniere{at}chu-nantes.fr
  • Accepted 16 January 2018
  • Published 8 February 2018

Summary

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.

Footnotes

  • Contributors CB-B: conception and design, acquisition of data, analysis and interpretation of data; drafting the manuscript. AP: acquisition of data, analysis and interpretation of data; revising the manuscript.

  • Competing interests None declared.

  • Patient consent Guardian consent obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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