Visual Improvement in a Child With Periorbital Plexiform Neurofibroma Treated With Selumetinib: Case Report and...

The authors describe a case of a 4-year-old girl with neurofibromatosis type 1 and a large, inoperable periorbital plexiform neurofibroma involving the right trigeminal nerve treated with selumetinib, highlighting significant tumor reduction, visual improvement, and lightening of café-au-lait macules. 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. 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 mitogen-activated protein kinase inhibitors in similar cases.