Abstract ID: 26-108
Visual Improvement in a Child With Periorbital Plexiform Neurofibroma Treated With Selumetinib
Author: Faisal Altahan Base Hospital / Institution: Dhahran Eye Specialist Hospital
Presentation Type: ePoster Presentation
Purpose
To report a pediatric case of orbital plexiform neurofibroma in a patient with neurofibromatosis type 1 treated with selumetinib, and to highlight previously reported outcomes of selumetinib therapy in similar cases.
Methods
A 4-year-old girl with neurofibromatosis type 1 with a large, reccurent, and inoperable orbital plexiform neurofibroma involving the right trigeminal nerve was evaluated clinically and radiologically. Selumetinib, a MAP kinase inhibitor was initiated at a dose adjusted according to body surface area. Serial clinical examinations, visual acuity assessment, intraocular pressure measurements, laboratory monitoring, and MRI were performed to assess treatment response and adverse effects over an extended follow-up periods.
Results
Within 3 months of therapy, the patient demonstrated marked improvement in proptosis, ocular alignment, and skin pigmentation. At 6 months, full extraocular motility was restored and intraocular pressure stabilized. After 9 months of treatment, tumor volume decreased by approximately 70%. The periorbital component decreased from 67 × 10 mm to 40 × 5 mm, and the deeper components extending toward the cavernous sinus also reduced in size. Visual acuity improved from 20/100 to 20/40. The patient tolerated treatment well, with only mild hair thinning and transient creatine phosphokinase elevation, requiring no dose modification.
Conclusion
Orbital plexiform neurofibromas in NF-1 are infiltrative lesions that often limit surgical management. Selumetinib has demonstrated significant tumor reduction in inoperable cases. In this patient, treatment resulted in marked tumor shrinkage, restoration of extraocular motility, intraocular pressure stabilization, and visual acuity improvement. Visual recovery in orbital plexiform neurofibroma following selumetinib is rarely reported, making this outcome notable. Improvement in café-au-lait macule pigmentation was also observed. This case supports selumetinib as a therapeutic option for inoperable orbital plexiform neurofibromas and adds to the limited literature documenting visual improvement.
Additional Authors
| First name | Last name | Base Hospital / Institution |
|---|---|---|
| Abdulrahman | Alhadlag | Shaqra University |
| Hatim | Najmi | Dhahran Eye Specialist Hospital |
| Fatimah | Alhammad | Dhahran Eye Specialist Hospital |