Novel Diagnosis of the Diffuse Variant of Infantile Orbital Fibromatosis

Abstract

A 23-month-old man was referred for a history of painless, progressive proptosis and motility deficits of the right eye (right eye) for 1 year. There was no history of trauma or malignancy. The patient had an unremarkable birth, medical, and family history. On ocular examination, he had fix and follow vision in both eyes (both eyes) without a relative afferent pupillary defect. External examination revealed axial proptosis in the right eye. Anterior segment and dilated fundus examination, including the optic nerves, were normal in both eyes. Intraocular pressure was 16 mm Hg in the right eye and 18 mm Hg in the left eye (left eye). Ocular motility in the right eye was moderately restricted in all fields of gaze, but full in the left eye with orthophoric alignment in a primary position. FIG. 1. Serial neuroimaging at 3-year follow-up show stable enlarged muscles in the right orbit. Initial presenting MRI T1weighted coronal and axial (A, B) demonstrate enhancement of enlarged extraocular muscles, but are hypointense on T2weighted images (C) suggestive of fibromatosis. D-F. Follow-up imaging at 3 years show minimal interval change and stability in the disease.