Magnetic resonance imaging findings in Axenfeld–Rieger syndrome

Matthew T Whitehead,^1,2 Asim F Choudhri,^1,2 Sarwat Salim<sup>3

1</sup>Department of Radiology, University of Tennessee Health Science Center, Memphis, TN, USA; ²Le Bonheur Neuroscience Institute, Le Bonheur Children’s Hospital, Memphis, TN, USA; ³Department of Ophthalmology, University of Tennessee Health Science Center, Memphis, TN, USA

Abstract: Axenfeld–Rieger syndrome (ARS) is a genetic disorder representing a disease spectrum resulting from neural crest cell maldevelopment. Glaucoma is a common complication from the incomplete formation of the iridocorneal angle structures. Neural crest cells also form structures of the forebrain and pituitary gland, dental papillae, aortic arch walls, genitalia, and long bones; therefore, patients with ARS manifest a wide range of systemic findings. To our knowledge, detailed magnetic resonance imaging findings have not been previously reported. We report a case of a 19-month-old Indian male diagnosed with ARS with emphasis on magnetic resonance imaging findings of the globes, brain, teeth, and skull base.

Keywords: ARS, glaucoma, megalocornea, orbit MRI