Orbit Deformities in Craniofacial Neurofibromatosis Type 1

Abstract

BACKGROUND AND PURPOSE: The possible relationship of orbit deformities in neurofibromatosis type 1 (NF1) to plexiform neurofibromas (PNFs) have not been fully elucidated. Our purpose was to review orbital changes in patients with craniofacial NF1.

METHODS: We retrospectively reviewed CT and MR imaging abnormalities of the orbit in 31 patients (18 male, 13 female; mean age, 14 years; age range 1–40 years) with craniofacial NF1.

RESULTS: Orbital abnormalities were documented in 24 patients. Six had optic nerve gliomas with enlarged optic canals. Twenty had PNFs in the orbit or contiguous to the anterior skull. The posterior orbit was distorted by encroachment from an expanded middle cranial fossa in 13 patients, and 18 had enlargement of the orbital rim. Other changes included focal decalcification or remodeling of orbital walls adjacent to PNFs in 18 patients and enlargement of cranial foramina resulting from tumor infiltration of sensory nerves in 16. These orbital deformities were sometimes progressive and always associated with orbital infiltration by PNFs.

CONCLUSION: In our patients with craniofacial neurofibromatosis, bony orbital deformity occurred frequently and always with an optic nerve glioma or orbital PNF. PNFs were associated with orbital-bone changes in four patterns: expansion of the middle cranial fossa into the posterior orbit, enlargement of the orbital rim, bone erosion and decalcification by contiguous tumor, and enlargement of the cranial foramina. Orbital changes support the concept of secondary dysplasia, in which interaction of PNFs with the developing skull is a major component of the multifaceted craniofacial changes possible with NF1.