An unusual presentation of bilateral optic pathway glioma in Crouzon Syndrome

Abstract

Crouzon Syndrome is a genetic craniosynostosis disorder associated with a high risk of ophthalmologic sequelae secondary to structural causes. However, ophthalmologic disorders due to intrinsic nerve aberrations in Crouzon Syndrome have not been described. Optic pathway gliomas (OPGs) are low grade gliomas that are intrinsic to the visual pathway, frequently associated with Neurofibromatosis type 1 (NF-1). OPGs involving both optic nerves without affecting the optic chiasm are rarely seen outside of NF-1. We report an unusual case of bilateral optic nerve glioma without chiasmatic involvement in a 17-month-old male patient with Crouzon Syndrome without any clinical or genetic findings of NF-1. This case suggests that close ophthalmologic follow up and orbital MRIs may benefit patients with Crouzon Syndrome.

Keywords:

• Crouzon
• genetics
• neuro-oncology
• ophthalmology
• optic pathway glioma

Declaration of interest statement

No potential conflict of interest was reported by all authors.

Additional information

Funding

Tower Cancer Research Foundation Career Development Grant (to B.N.), the Matthew Larson (Iron Matt) Foundation for Pediatric Brain Tumors Research Grant (to B.N.), and the NIH T32 Tumor Cell Biology CA-009056 Post-Doctoral Training Grant (to B.N.).