A 59-year-old woman with Down syndrome (DS) and prodromal Alzheimer disease (AD) presenting progressive cognitive impairment in the previous year, with no focal symptoms, headache, seizures, or accelerated cognitive decline, underwent 3T brain MRI showing cortico-subcortical tumefactive fluid-attenuated inversion recovery (FLAIR) hyperintensities, associated with microbleeds and superficial siderosis (Figure 1). These FLAIR abnormalities have moved spatially compared with a previous MRI, suggesting an inflammatory process (Figure 2). The diagnosis of cerebral amyloid angiopathy (CAA)–related inflammation (CAA-ri) was made.1 DS is a genetic form of AD and has increased CAA prevalence.2 As future anti-amyloid trials will likely include individuals with DS, neurologists must be aware of CAA-ri in this population.
Figure 1. Spatial Relationship Between Microbleeds, Superficial Siderosis, and FLAIR Abnormalities.
Baseline MRI shows multiple microbleeds in the temporo-occipital regions (A) and cerebellum (B) and superficial siderosis in the right occipital lobe (red arrows in C). (D, E) Anatomical relationship between inflammatory changes on fluid-attenuated inversion recovery (FLAIR) (E) and microbleeds on susceptibility-weighted imaging (SWI) (D).
Figure 2. Changes in the Location of Inflammatory Abnormalities.
Changes in location of fluid-attenuated inversion recovery (FLAIR) hyperintensities between the current and the previous MRI (2 years before). Red arrows show inflammatory changes present in the previous and absent in the current MRI. Blue arrows show inflammatory changes absent in the previous and present in the current scan.
Appendix. Authors
Study Funding
The authors report no targeted funding.
Disclosure
J. Fortea has received compensation for consultancies from Novartis, AC Immune, Biogen, and Esteve. M.R. Aranha and M. Carmona-Iragui have no disclosures relevant to the manuscript. Go to Neurology.org/N for full disclosures.
References
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