RT Journal Article
SR Electronic
T1 Neuroimaging Findings in Axenfeld-Rieger Syndrome: A Case Series
JF American Journal of Neuroradiology
JO Am. J. Neuroradiol.
FD American Society of Neuroradiology
SP 1231
OP 1235
DO 10.3174/ajnr.A7995
VO 44
IS 10
A1 White, Samuel
A1 Taranath, Ajay
A1 Hanagandi, Prasad
A1 Taranath, Deepa A.
A1 To, Minh-Son
A1 Souzeau, Emmanuelle
A1 Siggs, Owen M.
A1 Craig, Jamie E.
YR 2023
UL http://www.ajnr.org/content/44/10/1231.abstract
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