|Year : 2020 | Volume
| Issue : 1 | Page : 20
Unilateral chronic pulsating proptosis
Tiago Morais-Sarmento, João Garrido, Ricardo Figueiredo, António Ramalho, Rita Condesso, Ana Luísa Rebelo, Augusto Candeias
Department of Ophthalmology, Hospital Espírito Santo de Évora, Évora, Portugal
|Date of Submission||03-Jun-2020|
|Date of Acceptance||16-Jun-2020|
|Date of Web Publication||08-Aug-2020|
Dr. Tiago Morais-Sarmento
Serviço de Oftalmologia do Hospital do Espírito Santo de Évora, Largo Senhor da Pobreza, 7000-811, Évora
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.
Keywords: Pulsating proptosis, sphenoid wing dysplasia, valsalva 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 Mar 8];2:20. Available from: https://www.thepajo.org/text.asp?2020/2/1/20/290581
| Introduction|| |
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.,
| Case Report|| |
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|
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| Discussion|| |
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).
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.
| Conclusion|| |
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.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
| References|| |
Prathibha S, Parasar V, Yasmin S, Seetha Pramila VV. A multidisciplinary approach to sphenoid wing dysplasia presenting with pulsatile proptosis in neurofibromatosis Type 1: A rare case report. Indian J Ophthalmol 2018;66:157-60.
] [Full text]
Hirbe AC, Gutmann DH. Neurofibromatosis type 1: A multidisciplinary approach to care. Lancet Neurol 2014;13:834-43.
Onbas O, Aliagaoglu C, Calikoglu C, Kantarci M, Atasoy M, Alper F. Absence of a sphenoid wing in neurofibromatosis type 1 disease: Imaging with multidetector computed tomography. Korean J Radiol 2006;7:70-2.
Neurofibromatosis. Natl Inst Health Consens Dev Conf Consens Statement 1987;6:1-7.
Morax S, Herdan ML, Hurbli T. The surgical management of orbitopalpebral neurofibromatosis. Ophthalmic Plast Reconstr Surg 1988;4:203-13.
Bognanno JR, Edwards MK, Lee TA, Dunn DW, Roos KL, Klatte EC. Cranial MR imaging in neurofibromatosis. AJR Am J Roentgenol 1988;151:381-8.
Bale F, Rouland JF, Castier P. Ophthalmologic manifestations revealing a forme fruste of Recklinghausen's disease. Presse Med 1989;18:972-4.
Steel TR, Bentivoglio PB, Garrick R. Vascular neurofibromatosis affecting the internal carotid artery: A case report. Br J Neurosurg 1994;8:233-7.
Macfarlane R, Levin AV, Weksberg R, Blaser S, Rutka JT. Absence of the greater sphenoid wing in neurofibromatosis type I: Congenital or acquired: Case report. Neurosurgery 1995;37:129-33.
Van Es S, North KN, McHugh K, De Silva M. MRI findings in children with neurofibromatosis type 1: A prospective study. Pediatr Radiol 1996;26:478-87.
Farris SR, Grove AS Jr. Orbital and eyelid manifestations of neurofibromatosis: A clinical study and literature review. Ophthalmic Plast Reconstr Surg 1996;12:245-59.
Chapman PH, Curtin HD, Cunningham MJ. An unusual pterygopalatine meningocele associated with neurofibromatosis type 1. Case report. J Neurosurg 2000;93:480-3.
Castelnuovo P, Mauri S, Bignami M. Spontaneous compressive orbital emphysema of rhinogenic origin. Eur Arch Otorhinolaryngol 2000;257:533-6.
Jacquemin C, Mullaney P, Bosley TM. Abnormal development of the lesser wing of the sphenoid with microphthalmos and microcephaly. Neuroradiology 2001;43:178-82.
Farmer JP, Khan S, Khan A, Ortenberg J, Freeman C, O'Gorman AM, et al
. Neurofibromatosis type 1 and the pediatric neurosurgeon: A 20-year institutional review. Pediatr Neurosurg 2002;37:122-36.
Listernick R, Mancini AJ, Charrow J. Segmental neurofibromatosis in childhood. Am J Med Genet A 2003;121A: 132-5.
Friedrich RE, Heiland M, Kehler U, Schmelzle R. Reconstruction of sphenoid wing dysplasia with pulsating exophthalmos in a case of neurofibromatosis type 1 supported by intraoperative navigation using a new skull reference system. Skull Base 2003;13:211-7.
Wu CT, Lee ST, Chen JF, Lin KL, Yen SH. Computer-aided design for three-dimensional titanium mesh used for repairing skull base bone defect in pediatric neurofibromatosis type 1. A novel approach combining biomodeling and neuronavigation. Pediatr Neurosurg 2008;44:133-9.
Colás-Tomás T, Gutiérrez-Díaz E, Tejada-Palacios P, Barceló-Mendiguchía A, Mencía-Gutiérrez E. Management of congenital glaucoma in neurofibromatosis type 1: A report of two cases. Int Ophthalmol 2010;30:211-4.
Friedrich RE, Stelljes C, Hagel C, Giese M, Scheuer HA. Dysplasia of the orbit and adjacent bone associated with plexiform neurofibroma and ocular disease in 42 NF-1 patients. Anticancer Res 2010;30:1751-64.
Lotfy M, Xu R, McGirt M, Sakr S, Ayoub B, Bydon A. Reconstruction of skull base defects in sphenoid wing dysplasia associated with neurofibromatosis I with titanium mesh. Clin Neurol Neurosurg 2010;112:909-14.
Friedrich RE. Reconstruction of the sphenoid wing in a case of neurofibromatosis type 1 and complex unilateral orbital dysplasia with pulsating exophthalmos.In Vivo
Fu L, Wang ZC, Xian JF, Li J, Zhang ZY. Magnetic resonance imaging findings of orbital disease in neurofibromatosis type 1 patients. Zhonghua Yi Xue Za Zhi 2012;92:2042-5.
Friedrich RE, Rother J, Christ G, Lehmann M, Eulenburg CG, Giese M, et al
. Analysis of orbital plain radiographs for orbital deformities in neurofibromatosis type 1 patients, with special reference to alterations of the orbital rim as indicators of adjacent plexiform neurofibroma. Anticancer Res 2013;33:1081-90.
Dale EL, Strait TA, Sargent LA. Orbital reconstruction for pulsatile exophthalmos secondary to sphenoid wing dysplasia. Ann Plast Surg 2014;72:S107-11.
Niddam J, Bosc R, Suffee TM, Le Guerinel C, Wolkenstein P, Meningaud JP. Treatment of sphenoid dysplasia with a titanium-reinforced porous polyethylene implant in orbitofrontal neurofibroma: Report of three cases. J Craniomaxillofac Surg 2014;42:1937-41.
Li H, Liu T, Chen X, Xie L. A rare case of primary congenital glaucoma in combination with neurofibromatosis 1: A case report. BMC Ophthalmol 2015;15:149.
Friedrich RE, Hagel C, Mautner VF. Ipsilateral sphenoid wing dysplasia, orbital plexiform neurofibroma and fronto-parietal dermal cylindroma in a patient with segmental neurofibromatosis. Anticancer Res 2015;35:6813-8.
Rommel FR, Spors H, Grzybowski M, Hahn A, Neubauer BA. Sphenoid wing dysplasia with pulsatile exophthalmos in neurofibromatosis type 1. Neuropediatrics 2016;47:278-9.
Di Rocc C, Samii A, Tamburrini G, Massimi L, Giordano M. Sphenoid dysplasia in neurofibromatosis type 1: A new technique for repair. Childs Nerv Syst 2017;33:983-6.
Kini A, Syed R, Compton C, Hata JL, Ramasubramanian A. Sphenoid dysplasia: A rare presentation of infantile myofibroma. Ophthalmic Plast Reconstr Surg 2018;34:e65-e67.
Tam A, Sliepka JM, Bellur S, Bray CD, Lincoln CM, Nagamani SC. Neuroimaging findings of extensive sphenoethmoidal dysplasia in NF1. Clin Imaging 2018;51:160-3.
Naran S, Swanson JW, Ligh CA, Shubinets V, Taylor JA, Bartlett SP. Sphenoid dysplasia in neurofibromatosis: Patterns of presentation and outcomes of treatment. Plast Reconstr Surg 2018;142:518e-526e.
Rennert RC, Scott Pannell J, Levy ML, Khalessi AA. Sphenoid wing dysplasia and plexiform neurofibroma in neurofibromatosis type 1. ANZ J Surg 2018;88:E615-6.