Isolated Sphenoid Wing Dysplasia without Clinical Evidence of Neurofibromatosis Type 1: Reconstruction Using a 3-dimensional Model-assisted Patient-specific Titanium Mesh

抄録

Sphenoid wing dysplasia is a recognized diagnostic feature of neurofibromatosis type 1, yet it rarely occurs in isolation. We present the case of a girl who had pulsatile exophthalmos since birth and was diagnosed with sphenoid wing dysplasia at 1 year and 2 months of age, with no clinical or familial evidence of neurofibromatosis type 1 identified during long-term follow-up. Progressive herniation of the temporal lobe into the left orbit prompted surgical intervention at age 12. Using a 3-dimensional printed skull base model, a patient-specific, hand-bent titanium mesh was preoperatively fabricated and implanted via a frontotemporal approach to reconstruct the superior orbital wall and restore separation between the cranial and orbital compartments. Postoperatively, the pulsatile exophthalmos resolved completely, and a transient abduction deficit recovered within 6 months. Follow-up imaging confirmed stable mesh positioning and durable compartment separation, with satisfactory cosmetic results maintained at 2 years. This case expands the clinical spectrum of sphenoid wing dysplasia by illustrating a neurofibromatosis type 1-negative phenotype and supports 3-dimensional model-assisted, patient-specific titanium mesh reconstruction as an effective strategy for correcting spheno-orbital defects and eliminating pulsatile exophthalmos. Accumulation of similar cases is needed to refine surgical indications, optimize timing, and assess the long-term durability of implant materials.