Neuroimaging Findings in Axenfeld-Rieger Syndrome: A Case Series
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(Published version)
Date
2023
Authors
White, S.
Taranath, A.
Hanagandi, P.
Taranath, D.A.
To, M.-S.
Souzeau, E.
Siggs, O.M.
Craig, J.E.
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Journal article
Citation
American Journal of Neuroradiology, 2023; 44(10):1231-1235
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Samuel White, Ajay Taranath, Prasad Hanagandi, Deepa A. Taranath, Minh-Son To, Emmanuelle Souzeau, Owen M. Siggs and Jamie E. Craig
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Abstract
Axenfeld-Rieger syndrome is an autosomal dominant condition associated with multisystemic features including developmental anomalies of the anterior segment of the eye. Single nucleotide and copy number variants in the paired-like homeodomain transcription factor 2 (PITX2) and forkhead box C1 (FOXC1) genes are associated with Axenfeld-Rieger syndrome as well as other CNS malformations. We determined the association between Axenfeld-Rieger syndrome and specific brain MR imaging neuroradiologic anomalies in cases with or without a genetic diagnosis. This case series included 8 individuals with pathogenic variants in FOXC1; 2, in PITX2; and 2 without a genetic diagnosis. The most common observation was vertebrobasilar artery dolichoectasia, with 46% prevalence. Other prevalent abnormalities included WM hyperintensities, cerebellar hypoplasia, and ventriculomegaly. Vertebrobasilar artery dolichoectasia and absent/hypoplastic olfactory bulbs were reported in >50% of individuals with FOXC1 variants compared with 0% of PITX2 variants. Notwithstanding the small sample size, neuroimaging abnormalities were more prevalent in individuals with FOXC1 variants compared those with PITX2 variants.
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Published September 7, 2023
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© 2023 American Society of Neuroradiology. Indicates open access to non-subscribers at www.ajnr.org