Neuroimaging Findings in Axenfeld-Rieger Syndrome: A Case Series.

Autor:	White S; From the Robinson Research Institute (S.W.), Faculty of Medicine and Health Sciences, University of Adelaide, Adelaide, South Australia, Australia s.white@adelaide.edu.au., Taranath A; Department of Radiology (A.T.), Women's and Children's Hospital, Adelaide, South Australia, Australia., Hanagandi P; Department of Neuroradiology (P.H.), King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia., Taranath DA; Department of Ophthalmology (D.A.T., M.-S.T., E.S., O.M.S., J.E.C.), Flinders University, Bedford Park, South Australia, Australia., To MS; Department of Ophthalmology (D.A.T., M.-S.T., E.S., O.M.S., J.E.C.), Flinders University, Bedford Park, South Australia, Australia., Souzeau E; Department of Ophthalmology (D.A.T., M.-S.T., E.S., O.M.S., J.E.C.), Flinders University, Bedford Park, South Australia, Australia., Siggs OM; Department of Ophthalmology (D.A.T., M.-S.T., E.S., O.M.S., J.E.C.), Flinders University, Bedford Park, South Australia, Australia.; Garvan Institute of Medical Research (O.M.S.), Darlinghurst, New South Wales, Australia., Craig JE; Department of Ophthalmology (D.A.T., M.-S.T., E.S., O.M.S., J.E.C.), Flinders University, Bedford Park, South Australia, Australia.
Jazyk:	angličtina
Zdroj:	AJNR. American journal of neuroradiology [AJNR Am J Neuroradiol] 2023 Oct; Vol. 44 (10), pp. 1231-1235. Date of Electronic Publication: 2023 Sep 07.
DOI:	10.3174/ajnr.A7995
Abstrakt:	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. (© 2023 by American Journal of Neuroradiology.)
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu