Brain White Matter Changes in Axenfeld-Rieger Syndrome: Things to Keep in Mind

Annakie, David; Gasimova, Ulviyya; Shafi, Mazia; AlMajali, Mohammad; Rukmangadachar, Lokesh

doi:10.4274/tnd.2022.74240

Cited by 1 publication

(1 citation statement)

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“…Notably, growth hormone deficiency is a prevalent feature among individuals with septo-optic dysplasia, 30 which, like ARS, often involves olfactory bulb-tract hypoplasia. 31 While there have been several isolated ARS neuroimaging case studies reported, [32][33][34] to our knowledge, there is only 1 case series (Reis et al 35 ) that characterized the genetic and phenotypic features of an ARS cohort comprising 128 individuals with FOXC1 or PITX2 variants, including 18 with neuroimaging. The authors observed WM hyperintensities in 94% of FOXC1 variants and 50% of PITX2 variants 35 (compared with 50% for both FOXC1 and PITX2 variant groups in our study).…”

Section: Cerebellummentioning

confidence: 99%

Neuroimaging Findings in Axenfeld-Rieger Syndrome: A Case Series

White,

Taranath,

Hanagandi

et al. 2023

AJNR Am J Neuroradiol

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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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