|Year : 2021 | Volume
| Issue : 2 | Page : 370-372
Bilateral mucocele in a patient with Robinow syndrome: A case report
Gulsah Usta1, Umut Karaca1, Erdogan Okur2, Nazan Okur3, Onur Konukcu1, Dilek Ozkaya1
1 Suleyman Demirel University Faculty of Medicine, Department of Ophthalmology, Isparta, Turkey
2 Suleyman Demirel University Faculty of Medicine, Department of ENT Diseases, Isparta, Turkey
3 Suleyman Demirel University Faculty of Medicine, Department of Radiology, Isparta, Turkey
|Date of Submission||04-May-2020|
|Date of Acceptance||02-Oct-2020|
|Date of Web Publication||01-Apr-2021|
Dr. Gulsah Usta
Suleyman Demirel University Faculty of Medicine, Department of Ophthalmology, Isparta
Source of Support: None, Conflict of Interest: None
We report the case of a 23-year-old man with Robinow syndrome (RS) and bilateral epiphora due to nasolacrimal duct obstruction associated with bilateral mucoceles. The patient underwent endoscopic dacryocystorhinostomy (DCR) on the right and endoscopic revision DCR on the left, an anterior ethmoidectomy, and a septoplasty. Subsequently, he was disease-free at his 3-month follow-up. Like patients with midface anomalies, patients with RS frequently have lacrimal system pathologies. Since early recognition of this type of midface anomaly can minimize morbidity by facilitating optimal surgical therapy, we recommend a thorough ocular evaluation of patients with RS.
Keywords: Dacryocystocele, midface anomalies, nasolacrimal duct obstruction, Robinow syndrome
|How to cite this article:|
Usta G, Karaca U, Okur E, Okur N, Konukcu O, Ozkaya D. Bilateral mucocele in a patient with Robinow syndrome: A case report. Indian J Ophthalmol Case Rep 2021;1:370-2
|How to cite this URL:|
Usta G, Karaca U, Okur E, Okur N, Konukcu O, Ozkaya D. Bilateral mucocele in a patient with Robinow syndrome: A case report. Indian J Ophthalmol Case Rep [serial online] 2021 [cited 2021 Apr 11];1:370-2. Available from: https://www.ijoreports.in/text.asp?2021/1/2/370/312324
Robinow syndrome (RS), also known as fetal face syndrome, is a rare genetic disorder; individuals with RS have abnormal craniofacial, oral, and musculoskeletal features and genitals. The craniofacial features of RS have been well-reported, including the characteristic appearance of a broad prominent forehead, marked hypertelorism, a short nose, and upturned nostrils. Many patients with midface defects or hypertelorism have lacrimal system abnormalities.,
Here, we report a unique case of a patient with RS and bilateral mucoceles that were isolated to the lacrimal sac and proximal nasolacrimal ducts, as well as his treatment. Patients consent was obtained for the publication of the medical data and identifiable photograph. This case report was conducted in accordance with the ethical principles of the Helsinki Declaration as revised in 2013.
| Case Report|| |
A 23-year-old man, who was previously diagnosed with RS, was admitted to our clinic for bilateral epiphora and left medial canthus swelling. He had a history of recurrent, persistent dacryocystitis refractory to a variety of topical medications. He underwent an ineffective left-sided external dacryocystorhinostomy (DCR) 10 years before the current presentation. In addition, postoperative nasal obstruction as well as intermittent bilateral, frontal, and maxillary sinus pain persisted.
External examination revealed a left-sided mass in the medial canthal region below the level of the medial canthal tendon. The mass had a slightly bluish hue, but the overlying skin was unremarkable except incision scar [Figure 1].
|Figure 1: External appearance of the patient. Note the prominent forehead; hypertelorism; the small, upturned nose; the long philtrum; and the small mandible|
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Bilateral refraction testing, slit-lamp biomicroscopy, ophthalmoscopy, and tonometry revealed normal findings. There was tears stasis in conjunctival lakes. However, pressure on the right medial canthal region did not result in the expression of mucoid material, while pressure on the left medial canthal region resulted in the expression of pus. Bilateral lavage of the lacrimal system through the inferior canaliculus revealed reflux of saline in the superior canaliculus. Furthermore, bilateral probing of the lacrimal system revealed a “hard stop” at the medial wall of the lacrimal fossa.
The patient underwent maxillofacial computed tomographic (CT) examination in axial plane in order to clarify the anatomy and to reveal the variations and complications if there is any. Coronal and sagittal multiplanar reformation (MPR) CT images were also created and examined for better orientation. CT scanning demonstrated that there were largely expanding cystic structures with bony walls as being paper-thin in some parts, bilaterally in the inferiomedial neighborhood of both globes. The left-sided one was more prominent, and there were air-fluid levels as well. These cystic structures were extending down inferiorly as to the level of diminutive ductal structures bilaterally, both clearly opening to the inferior meatus [Figure 2].
|Figure 2: Maxillofacial CT scan images at bone window settings in axial (a), coronal (b) and sagittal (c) planes, demonstrating the mucocele formations - being more prominent on the left side - of the lacrimal sacs and the proximal portions of the nasolacrimal ducts together (a-c, asterisks) bilaterally down to the severely narrow distal part of the nasolacrimal duct (b and c, white arrow). Note the distal nasolacrimal duct opening to the inferior meatus (b and c, “m”) is a diminutive one and the sagittal MPR CT image of the left sided mucocele (c) shows air-fluid levels|
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On consideration of their anatomic localization and extension, these cystic structures were consistent with cavities formed by the union of largely dilated lacrimal sacs and the proximal parts of the nasolacrimal ducts full of fluid at first place. We also obtained contrast-enhanced magnetic resonance imaging of maxillofacial region in order to better evaluate the internal nature of the cavities and mucosal pattern, which clearly demonstrated the fluid content of the lesions and smooth, thin enhancing walls [Figure 3].
|Figure 3: Coronal and axial contrast-enhanced fat-saturated T1 weighted (a and b, respectively) MRI images nicely demonstrate the mucoceles as largely dilated cystic structures (asterisks) with smooth, enhancing walls. (c and d) Fat-saturated T2 weighted counterparts of a and b, respectively. Mucoceles are of high signal intensity (asterisks), characteristic for fluid|
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We concluded that the cavities were largely dilated gradually with accumulating fluid due to severely narrow distal canal serving like an atretic segment and had took the form of mucoceles, the left-sided one being more prominent.
Nasal endoscopy revealed a bilateral cystic lesion originating from the lower portion of the nasolacrimal duct (NLD). Therefore, the patient was diagnosed with cystic dilation of the lacrimal sac and proximal NLD. Surgery was conducted under general anesthesia with endoscopic guidance and the use of a drill. The patient underwent an endonasal DCR on the right, a revision endonasal DCR on the left, an anterior ethmoidectomy, and a septoplasty. At the end of the procedure, syringing was performed to confirm that there was no stenosis in the upper lacrimal excretory system. Although no canalicular abnormality was observed on the left side, not only for the procedure being a left DCR revision but also for the existence of minimal granulation tissue In the opening of the left common canaliculus to the sac and the impression of mild stenosis of inferior canaliculi during lacrimal lavage, a silicon catheter was introduced on the left side. The patient was prescribed steroid eye drops for two weeks. He was disease-free at his 3-month follow-up. The silicon tube was removed in the same examination.
| Discussion|| |
RS was first reported by Meinhard Robinow in 1969 when he described several familial cases of mesomelic limb shortening, hypertelorism, and hypoplastic genitalia. The craniofacial characteristics of RS include a broad forehead, hypertelorism, midface hypoplasia, a flattened and widened nose, a depressed nasal bridge, down-slanted mouth corners, low-set ears, micrognathia, and a triangular mouth. The disorder occurs in dominant and recessive forms. Patients with the dominant form of RS (DRS) frequently experience moderate symptoms. Our patient, who had the DRS phenotype, had the characteristic facial appearance known as “fetal face” with frontal bossing, wide palpebral fissures, a depressed nasal bridge, and a short upturned nose [Figure 1].
Our patient had bilateral epiphora, which possibly resulted from cystic dilation of the distal ends of the NLDs. An MRI showed signal changes in the maxillary sinuses consistent with several mucous retention cysts. Inflammatory signal changes were observed at the level of the anterior ethmoid cells bilaterally. The anterior ethmoid cells were adjacent to the enlarged NLD, extending 18 mm on the left and 13 mm on the right. The appearance of these mucoceles was likely due to dense content in the widest part of the anterior sinus, with the air-fluid level more prominent on the left side. We determined that the mucoceles developed secondary to obstruction of the nasolacrimal canal and duct. These abnormalities may have caused our patient's bilateral epiphora. As far as we know, this is the first reported case of a patient with RS and mucoceles secondary to nasolacrimal duct obstructions.
Patients with midface anomalies or hypertelorism often have lacrimal system anomalies. Punctal agenesis, canalicular stenosis, canalicular atresia, supernumerary punctum, nasolacrimal duct stenosis, and frank distal or multilevel NLD obstructions are associated with lacrimal anomalies. In previous reports of patients with RS, an absence of upper lacrimal canaliculi was found to be linked to anatomical features, thereby predisposing individuals to valvular occlusion and acute dacryocystitis.
The limitation of this case is that the follow-up period is as short as 3-months. However, our case report is prepared mainly to point out possibility of lacrimal system abnormalities in patients with rare syndromes.
| Conclusion|| |
In conclusion, RS is a clinically recognizable genetic disorder. Based on its characteristic clinical findings, it can be classified as dominant or recessive. We describe a patient with the dominant form of RS who had bilateral lacrimal sac and proximal NLD mucoceles. To the best of our knowledge, this is the first report of mucocele-associated epiphora in a patient with RS. We recommend that patients with RS as well as patients with midface anomalies (particularly hypertelorism), should be examined for lacrimal abnormalities.
We would like to thank the patient described here for his continuous cooperation, and our hospital staff for their endless help.
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|| |
Soman C, Lingappa A. Robinow syndrome: A rare case report and review of literature. Int J Clin Pediatr Dent 2015;8:149-52.
Beiraghi S, Leon-Salazar V, Larson B, John M, Cunningham M, Petryk A, et al
. Craniofacial and intraoral phenotype of Robinow syndrome forms. Clin Genet 2011;80:15-24.
Aguirre Vila-Coro A, Mazow ML, Drtil SH, Robinson LK, Arnoult JB. Lacrimal anomalies in Robinow's syndrome. Case report. Arch Ophthalmol 1988;106:454.
Ali MJ, Paulsen F. Syndromic and nonsyndromic systemic associations of congenital lacrimal drainage anomalies: A major review. Ophthalmic Plast Reconstr Surg 2017;33:399-407.
Mossaad AM, Abdelrahman MA, Ibrahim MA, Al Ahmady HH. Surgical management of facial features of robinow syndrome: A case report. Open Access Maced J Med Sci 2018;6:536-9.
Ali MJ, Kakizaki H. Embryology of the lacrimal drainage system. In: Principles and Practice of Lacrimal Surgery. Singapore: Springer; 2018. p. 9-15.
[Figure 1], [Figure 2], [Figure 3]