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Abstract #128471 Published in IGR 25-3
A case of Axenfeld-Rieger syndrome with neuroradiological abnormalities
Ohkubo Y; Hayashi T; Ida K; Nakano E; Hamada A; Higashida T; Asakawa Y; Yoshikawa K; Yokokawa T; Tago MRadiology case reports 2025; 20: 5078-5080
Axenfeld-Rieger syndrome is a rare autosomal dominant disorder characterized primarily by developmental anomalies of the anterior segment of the eye and systemic manifestations, including craniofacial abnormalities, dental anomalies, and neurological involvement. Although genetic mutations in the forkhead box C1 (FOXC1) or paired-like homeodomain transcription factor 2 (PITX2) have been implicated, the full extent of associated neurological features remains underexplored. We present the case of a 2-year-old boy diagnosed with Axenfeld-Rieger syndrome who exhibited mild facial dysmorphism and required surgical intervention for glaucoma. Genetic testing identified a FOXC1 mutation, and family history revealed that his father and paternal grandfather were also affected. Brain magnetic resonance imaging scans revealed periventricular white matter lesions, dilated perivascular spaces, and vertebrobasilar artery dolichoectasia. This case underscores the potential for significant neurological findings in patients with Axenfeld-Rieger syndrome and highlights the clinical value of comprehensive neuroradiological evaluation in such cases.
Department of Radiology, Teikyo University Mizonokuchi Hospital, Kawasaki, Japan.
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