Analysis of Orbital Plain Radiographs for Orbital Deformities in Neurofibromatosis Type 1 Patients, with Special Reference to Alterations of the Orbital Rimas Indicators of Adjacent Plexiform Neurofibroma

摘要

Neurofibromatosis type 1 (NF1) is an autosomal dominant inherited disease. Some stigmata of NF1 occur in the orbital region. The aim of this study was to reveal whether alterations of the orbital rim visible on plain radiographs may indicate the presence of a plexiform neurofibroma (PNF), a tumour almost exclusively diagnosed in NF1. Material and Methods: The plain orbital radiographs of 73 patients with NF1 (female: N=37, male: N=36) were investigated for alterations of the orbit. The group was further distinguished according to the presence of orbital PNF (N=53) and/or sphenoid wing dysplasia (N=30). Radiographs from patients with NF1 and with exclusion of PNF in the orbitofacial region were used for comparison (N=20). A special cephalometric analysis (Dental Vision?) was adapted to the demands of this study. Results: Patients with NF1 not affected by an orbitofacial PNF exhibited symmetrical orbits. Unilateral increase in orbital height was associated with ipsilateral PNF. The width of orbits affected by a PNF was often slightly increased compared to the non-affected side. The determination of cephalometrically-defined angles disclosed an erection of the PNF-affected orbit compared to the medio-sagittal plane. Conclusion: Plain radiographs are often the first diagnostic measure used to determine skeletal alterations. This study shows that certain parameters of the orbital rim are useful indicators of a PNF in patients who are unilaterally affected by this lesion in the orbital or orbitotemporal region.