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An unusual presentation of bilateral optic pathway glioma in Crouzon Syndrome.

Brian NaAnthony C WangChristopher Travis WattersonJulian Martinez-AgostoSulagna SaittaMarina Dutra-ClarkeFranceska BhansaliStacy L PinelesVivian Y ChangVeeral S ShahPeter de Blank
Published in: Pediatric hematology and oncology (2023)
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.
Keyphrases
  • optic nerve
  • case report
  • low grade
  • optical coherence tomography
  • high grade
  • signaling pathway
  • oxidative stress
  • copy number
  • gene expression
  • dna methylation