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Neuroimaging Findings in Axenfeld-Rieger Syndrome: A Case Series
Samuel White1, Ajay Taranath2, Prasad Hanagandi3
1From the Robinson Research Institute (S.W.), Faculty of Medicine and Health Sciences, University of Adelaide, Adelaide, South Australia, Australia s.white@adelaide.edu.au.
AJNR. American Journal of Neuroradiology
|September 7, 2023
Summary
Axenfeld-Rieger syndrome, linked to PITX2 and FOXC1 gene variants, frequently involves brain abnormalities. Vertebrobasilar artery dolichoectasia and cerebellar hypoplasia were common, particularly with FOXC1 variants.
Area of Science:
- Genetics
- Neurology
- Ophthalmology
Background:
- Axenfeld-Rieger syndrome is an autosomal dominant disorder affecting eye development.
- Genetic variants in PITX2 and FOXC1 genes are implicated in Axenfeld-Rieger syndrome and central nervous system (CNS) malformations.
Purpose of the Study:
- To investigate the association between Axenfeld-Rieger syndrome and specific brain MRI anomalies.
- To compare neuroradiologic findings in patients with FOXC1 variants versus PITX2 variants.
Main Methods:
- A case series of individuals with Axenfeld-Rieger syndrome, including those with and without genetic diagnoses.
- Analysis of brain MRI findings, focusing on specific neuroradiologic abnormalities.
- Categorization of patients based on identified genetic variants (FOXC1, PITX2) or lack thereof.
Main Results:
- Vertebrobasilar artery dolichoectasia was the most frequent finding (46% prevalence).
- Other common abnormalities included white matter hyperintensities, cerebellar hypoplasia, and ventriculomegaly.
- Individuals with FOXC1 variants showed higher prevalence of vertebrobasilar artery dolichoectasia and absent/hypoplastic olfactory bulbs compared to those with PITX2 variants.
Conclusions:
- Neuroimaging abnormalities are common in Axenfeld-Rieger syndrome.
- FOXC1 variants are associated with a distinct pattern of brain abnormalities, including vertebrobasilar artery dolichoectasia and olfactory bulb anomalies, more frequently than PITX2 variants.
