Visual Improvement in a Child with Periorbital Plexiform Neurofibroma Treated with Selumetinib: Case Report and Literature Review
Author: Hatim Najmi
Base Hospital / Institution: Dhahran Eye Specialist Hospital
ePoster presentation
Abstract ID: 25-289
Purpose
To describe a pediatric case of orbital plexiform neurofibroma (PN) in a neurofibromatosis type 1 (NF1) patient treated with Selumetinib, highlighting significant tumor reduction and visual improvement, and lightening of Café-au-Lait Macules (CALM).
Methods
A 4-year-old girl with NF1 and a large, inoperable orbital PN involving the right trigeminal nerve was treated with Selumetinib, a MEK inhibitor. Treatment outcomes were evaluated based on tumor volume, visual acuity, intraocular pressure (IOP), and adverse effects. MRI imaging and clinical assessments were conducted periodically to monitor progress.
Results
The patient showed significant clinical and radiological improvements within 8 months of selumetinib therapy. Tumor volume decreased by approximately 70% with marked proptosis resolution and extraocular motility restoration. The visual acuity of the affected eye improved from 20/100 to 20/40, and the intraocular pressure was stabilized without surgical intervention. Adverse effects were mild and included transient elevations in creatine phosphokinase levels and mild hair loss, with no dose adjustment required.
Conclusion
This case highlights selumetinib as a potential first-line treatment for inoperable periorbital plexiform neurofibromas in pediatric patients with neurofibromatosis type 1, achieving functional and visual improvements. Future studies should explore the long-term efficacy and safety of MEK inhibitors in similar cases.
Additional Authors
| First name | Last name | Base Hospital / Institution |
|---|---|---|
| Hatim | Najmi | Oculoplastic Division, Department of Ophthalmology, Dhahran Eye Specialist Hospital, Saudi Arabia |
| Abdulrahman | Alhadlag | Ophthalmology Department, College of Medicine, Shaqra University, Riyadh, Saudi Arabia |
| Faisal | Altahan | Department of Ophthalmology, Dhahran Eye Specialist Hospital, Dhahran, Saudi Arabia |
| Fatimah | AlHammad | Oculoplastic Division, Department of Ophthalmology, Dhahran Eye Specialist Hospital, Saudi Arabia |
