Arteriovenous Malformation in a Patient with Crouzon Syndrome

Abstract

Introduction: Crouzon syndrome is a rare autosomal dominant genetic disorder associated with a mutation in the fibroblast growth factor receptor 2 (FGFR2) gene, which affects the first branchial arch. It is characterised by premature craniofacial dysostosis, resulting in skull deformities, facial anomalies, and proptosis.

Patient Presentation: We report a case of Crouzon syndrome who presented with no neurological symptoms and was incidentally found to have arteriovenous malformations in the vertex and occipital region.

Management and outcome: This case elucidates the importance of considering vascular anomalies in patients with syndromic craniosynostosis, and imaging strongly contributes to early identification of AVMS and can guide multidisciplinary evaluation and intervention to optimise outcomes in such complex presentations.

Conclusion and contribution: The association between Crouzon syndrome and AVMs remains poorly understood; therefore, further studies and reporting of similar cases may help establish a better pathophysiological link.

Keywords: Crouzon, Craniosynostosis, Arteriovenous malformations