Correspondence Address: Dr. Tiago Morais-Sarmento Serviço de Oftalmologia do Hospital do Espírito Santo de Évora, Largo Senhor da Pobreza, 7000-811, Évora Portugal
Source of Support: None, Conflict of Interest: None
We hereby describe a rare case of unilateral sphenoid wing dysplasia nonassociated with neurofibromatosis, which presented with pulsating proptosis with resting enophthalmos and with Valsalva-induced exophthalmos.
How to cite this article: Morais-Sarmento T, Garrido J, Figueiredo R, Ramalho A, Condesso R, Rebelo AL, Candeias A. Unilateral chronic pulsating proptosis. Pan Am J Ophthalmol 2020;2:20
How to cite this URL: Morais-Sarmento T, Garrido J, Figueiredo R, Ramalho A, Condesso R, Rebelo AL, Candeias A. Unilateral chronic pulsating proptosis. Pan Am J Ophthalmol [serial online] 2020 [cited 2021 Jun 23];2:20. Available from: https://www.thepajo.org/text.asp?2020/2/1/20/290581
The sphenoid wing dysplasia (SWD) is a rare clinical entity and even rarer when in the absence of neurofibromatosis pathology. Considering neurofibromatosis type 1 (NF1) incidence of 1 in 2500–3000 births and that only 5%–10% are associated with SWD, the incidence of SWD and NF1 can be estimated to be 1 in 25,000-60,000 births.,
A 36-year-old male patient is referred to our department due to a long-standing history of unilateral pulsating sensation in OD without any other complaints. According to the patient, the symptoms had a sudden onset following a trauma episode 23 years earlier. The patient denied previous surgical procedures and significant family history, particularly history of inherited conditions.
The patient presented with pulsating proptosis accompanied by resting enophthalmos and by exophthalmos induced by Valsalva maneuver in OD [as shown in online supplement Video 1]. Uncorrected visual acuity was 10/10 OD and 10/10 OS. There was no evidence of ocular misalignment. The biomicroscopic examination was unremarkable, particularly without any Lisch nodules in either eye. Intraocular pressure levels were 14 mmHg OD and 14 mmHg OS measured by Goldmann applanation tonometry. Fundoscopic examination revealed an optic disc, macula, vessels, and periphery within the normal limits. An angiographic computerized tomographic scan of the orbits and head [Figure 1] revealed an absence of the greater sphenoidal wing of probable congenital origin with associated mild thickening of the lateral rectus on the right orbit. The scan excluded vascular abnormalities such as fistulas, stenosis, or aneurysms or any other intraorbital abnormalities. The patient presented none of the other NF1 diagnostic criteria as defined by the 1987 NIH Consensus Development Conference, such as café-au-lait macules, axillary or inguinal skinfold freckling, two or more dermal neurofibromas or plexiform neurofibroma, two or more iris hamartomas (Lisch nodules), any optic pathway glioma or any first-degree relative with NF1.
Figure 1: Computed tomography scans, bone window: absence of the right sphenoid wing across several sections (upmost left shows the highest level scan and downmost right shows the lowest level scan). Arrowheads: delineate the absence of the greater sphenoidal wing
Isolated unilateral SWD with pulsating proptosis accompanied by resting enophthalmos and by exophthalmos induced by Valsalva maneuver is an even rarer syndrome than the associated with NF1, as shown in [Table 1] (4 cases out of 470 SWD published in English literature were nonassociated with NF1 but associated with other pathology and only 1 case of totally isolated SWD).
Table 1: Review of sphenoid wing dysplasia published manuscripts
The surgical management of orbitalpalpebral neurofibromatosis or neurofibromatosis-like syndromes is quite difficult to standardize because of its polymorphism and unpredictable evolution. Regarding clinical management, indications for surgical intervention included progressive symptoms and/or lesion progression on computed tomography and magnetic resonance imaging scans. Despite these clinical indications, there is a significant impact of SWD in patients' appearance, social skills, and mental health, which must also been taken into account as possible indications for surgical correction of SWD depending on their impact in the patients' life quality.
The main surgical goals are the dural closure and the restoration of the orbital cavity. The orbital defect can be corrected with split bone graft, synthetic bone cement (polymethyl-methacrylate) or titanium mesh. The surgical outcomes of the titanium mesh technique have already proved to be reliable in preventing the progressive enlargement of the bone defect and the proptosis as well as in repairing an already established massive ocular globe dislocation at the long-term (6–19 years).
Considering all the reports included in [Table 1], the surgical correction of SWD seems to be majorly successful in orbital wall reconstruction, in reducing pulsatile exophthalmos and insignificant esthetic improvement with long-term recurrence-free outcomes, despite failing in patients with already established ocular movements dysfunctions or long-standing visual acuity reduction.
Despite the promising and positive outcomes already achieved, it remains interesting and useful to keep following these patients whether submitted to surgical intervention or maintained in conservative management.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
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