Orbitofacial neurofibromatosis: clinical characteristics and treatment outcome

Abstract

Purpose: To report clinical observations and surgical management in a large series of patients with orbitofacial neurofibromatosis type 1 (OFNF).

Patients and methods: Patients were identified and medical records reviewed for demographic data, ophthalmologic examinations, surgical interventions, and procedure outcome to create a retrospective, non-comparative case series of patients with OFNF seen at one medical centre over a 23-year period.

Results: Sixty patients with OFNF (31 females and 29 males; mean age, 14 years) were followed for an average of 5.7 years. Presenting signs and symptoms included eyelid swelling in all patients, ptosis in 56 (93.3%), proptosis in 34 (56.6%), dystopia or strabismus in 30 (50%), and decreased visual acuity in 50 (83.3%). Surgical intervention included ptosis repair in 54 (90%; mean 1.6 surgical procedures), facial and orbital tumour debulking in 54 (90%; mean 2.3 surgeries), and canthoplasty in 28 (46.6%) patients. Eleven patients required enucleation or exenteration of a blind eye.

Conclusion: Patients with OFNF often require multiple procedures to preserve vision, prevent additional disfigurement, and achieve cosmetic rehabilitation. Patients need regular ophthalmological monitoring given the potential for progressive visual and cosmetic consequences.

Figure 1

(a) A 10-year-old boy with left-sided OFNF causing left upper eyelid fullness, ptosis, and facial asymmetry. (b) Axial head CT image of the same patient showing secondary sphenoid wing and orbital dysplasia on the left with larger globe on the left (without glaucoma) and NF infiltration of the orbit, temporal region, and lacrimal gland.

Figure 2

(a) This 8-year-old boy had bilateral OFNF due to NF1. Excessive weight of the tumour on the right side of his face tilts his head to the right. (b) Parasagittal MRI showing large temporal horn of lateral ventricle as temporal lobe herniates into orbit because of sphenoid dysplasia.

Figure 3

(a) External photograph of a 3-year-old child with OFNF who presented with swelling and fullness of his right upper eyelid due to infiltration by a plexiform NF. Clinical examination revealed multiple café au lait spots over other parts of his body. (b) Father of child in (a) with multiple facial NFs.

Figure 4

(a) A 4-year-old boy presented with left upper eyelid ptosis with an s-shaped contour caused by plexiform NF infiltration associated with NF1. (b) The patient in (a) at age 12 years. (c) The patient in (a) at age 15 years. He had rapid progression of OFNF over his teenage years despite several surgical corrections of ptosis and tumour debulking.

Figure 5

(a) A 2-year-old girl presented with decreased bilateral vision, proptosis, and orbital dystopia. (b) Axial MRI image of patient in (a) showed bilateral ON gliomas with remodelling of the left orbit. (c) Post-operative external photograph of the patient in (a) after placement of a cosmetic prosthetic shell in the left anophthalmic socket. (d) Globe and a very thick segment of optic nerve glioma after left-sided enucleation and tumour resection on patient in (a).

Figure 6

(a) This 6-year-old boy had left upper eyelid fullness and ptosis due to plexiform NF. Previous frontalis suspension surgery had failed. (b) Coronal orbital CT images of patient in (a) revealed soft tissue infiltration of left superior orbit and enlargement of orbital cavity. (c) Patient in (a) with satisfactory cosmesis after debulking of orbital tumour along with correction of left upper eyelid ptosis.

Figure 7

(a) This 18-year-old girl had right-sided OFNF with tumour involvement of right forehead, brow, and lid. She underwent multiple resections of her tumours in an effort to obtain acceptable cosmesis. She was, nevertheless, severely amblyopic in the occluded right eye. (b) Same patient as (a) after most recent surgical resection of her forehead, eye brow and eyelid tumour.

Figure 8

(a) 45-year-old woman with a large neurofibroma involving the left upper lid covering the left globe. (b) After surgical debulking of patient in (a), the left eye was visible; however, vision in the left eye was limited due to the corneal and limbal infiltration by the tumour.