PT  - JOURNAL ARTICLE
AU  - White, Samuel
AU  - Taranath, Ajay
AU  - Hanagandi, Prasad
AU  - Taranath, Deepa A.
AU  - To, Minh-Son
AU  - Souzeau, Emmanuelle
AU  - Siggs, Owen M.
AU  - Craig, Jamie E.
TI  - Neuroimaging Findings in Axenfeld-Rieger Syndrome: A Case Series
AID  - 10.3174/ajnr.A7995
DP  - 2023 Sep 07
TA  - American Journal of Neuroradiology
4099  - http://www.ajnr.org/content/early/2023/09/07/ajnr.A7995.short
4100  - http://www.ajnr.org/content/early/2023/09/07/ajnr.A7995.full
AB  - SUMMARY: 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.ARSAxenfeld-Rieger syndrome