|Year : 2023 | Volume
| Issue : 1 | Page : 164-166
Case report of an isolated lacrimal sac rhabdomyosarcoma
G Seethapathi1, Sangeetha Jeganathan2
1 Department of Ophthalmology, Orbit and Oculoplasty Surgeon, Salem, Tamil Nadu, India
2 Associate Professor Ophthalmology, Kasturba Medical College Mangalore, Manipal, Karnataka, India
|Date of Submission||28-Apr-2022|
|Date of Acceptance||19-Sep-2022|
|Date of Web Publication||20-Jan-2023|
Department of Ophthalmology, Manipal Hospital, Dalmia Board, Salem-Bangalore Highway, Salem - 636 012, Tamil Nadu
Source of Support: None, Conflict of Interest: None
A five-month-old child presented with complaints of watering from the left eye associated with swelling in the left lacrimal sac area, which was progressive. The swelling was noticed at 3 months of age by the parents. On examination, the swelling was tense and cystic in consistency. A provisional diagnosis of amniocele was made. A diagnostic/therapeutic probing was planned. However intraoperatively while probing was attempted, we encountered a hard stop distal to the canaliculus. Hence, after additional consent, the swelling was explored by an external dacryocystorhinostomy (DCR) incision. It was a solid and well-defined mass, which was found in the lacrimal sac region. The mass was excised in-toto and sent for a histopathology examination. A bicanalicular silicone intubation tube was passed and distally retrieved via the nasolacrimal duct (NLD) opening through the inferior meatus of the nose to maintain lacrimal outflow patency. The histopathological examination (HPE) features were suggestive of embryonal rhabdomyosarcoma (RMS). The child was then referred to a medical oncologist for systemic evaluation and adjuvant chemotherapy. The child underwent six cycles of chemotherapy and was followed up monthly for a period of 12 months.
Keywords: Amniocele, bicanalicular intubation, embryonal rhabdomyosarcoma
|How to cite this article:|
Seethapathi G, Jeganathan S. Case report of an isolated lacrimal sac rhabdomyosarcoma. Indian J Ophthalmol Case Rep 2023;3:164-6
Rhabdomyosarcoma (RMS) is the most common orbital malignancy of childhood. However, among mesenchymal malignancies, it is a relatively rare tumor with an annual incidence of 4.3 cases per million children. The orbit is a primary site in about 10% of these tumors. Orbital RMS can present insidiously, clinically, and radiologically mimicking other space-occupying lesions. The most characteristic presentations are with rapid onset of proptosis and displacement of the globe. Repeated clinical observation points out that RMS should be suspected whenever the clinical presentation of a rapidly progressive unilateral exophthalmos is observed in a child. Although the superonasal orbit is the most common location of this tumor, it may also present as a palpable subconjunctival mass or eyelid nodule with edema of the eyelids or chemosis. Rarely, they may also present as posterior orbital tumors.
| Case Report|| |
Our patient was a child presenting with a gradual onset, progressive swelling over the left lacrimal sac region [Figure 1]. At presentation, the child was 5 months old with features of a progressive swelling over the left lacrimal sac region with epiphora. The swelling was characteristically located below the level of the medial canthal tendon clinically. The child's parents had first noticed the swelling, about 2 months before presentation, which probably suggests the age of onset at about 3 months of age. On clinical examination, there was a firm swelling over the left lacrimal sac region. The skin over the swelling appeared normal. The swelling was predominantly located below the medial canthal tendon. The swelling was non-pulsatile and more like a tense cystic swelling to palpation. A clinical diagnosis of left-sided amniocele was made. A trial of lacrimal massage with topical antibiotics was tried for a month by the primary ophthalmologist before the child presented to us. We planned to do a diagnostic/therapeutic probing for the swelling.
|Figure 1: Five-month-old child presenting with lesion below left medial canthal tendon with epiphora|
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Congenital dacryolith was a differential diagnosis that was considered in this child due to the presentation of swelling in the lacrimal sac area along with epiphora, however as there was no pain or signs of inflammation it was unlikely. Another differential considered was dacryocystitis.
The child was posted for probing under general anesthesia (GA). During the procedure, as probing was attempted, we encountered a hard stop immediately distal to the canaliculus at the level of the lacrimal sac. This was in contrast to the usual hard stop one would expect at the level of the membranous obstruction at the level of the valve of Hasner as one would expect in the case of a non-canalized nasolacrimal duct (NLD). A preliminary anterior rhinoscopy revealed no abnormalities.
Hence, after additional consent, the mass was explored by an external dacryocystorhinostomy (DCR) incision. On dissection, we found a solid and well-defined mass, which was found in the entire lacrimal sac region and the distal outflow system just beyond the level of the lacrimal sac, which was dissected and excised in its entirety [Figure 2]. The mass was sent for histopathology evaluation. A bicanalicular silicone intubation tube was then passed and distally retrieved through the NLD opening through the inferior meatus of the nose to maintain lacrimal outflow patency.
|Figure 2: Intraoperative pictures showing solid mass occupying the entire lacrimal fossa, mass excised in toto and bicanalicular silicone intubation tube in situ|
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Outcome and follow-up
The histopathological examination (HPE) features were suggestive of embryonal rhabdomyosarcoma [Figure 3]. The child was then referred to a medical oncologist for systemic evaluation and adjuvant chemotherapy. The child underwent six cycles of chemotherapy and followed up monthly initially for a period of twelve months [Figure 4]. No recurrence was detected in the follow-up period.
|Figure 3: HPE: Section shows a malignant neoplasm comprising small round and spindle-shaped cells scattered in a loose stroma. Many large multinucleated bizarre giant cells and atypical mitosis are also seen. Many large polygonal cells with eosinophilic cytoplasm (rhabdomyoblasts) are also seen as suggestive of embryonal rhabdomyosarcoma|
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| Discussion|| |
Rhabdomyosarcoma is a highly malignant tumor in which the tissue of origin is the pluripotent mesenchyme. It is the most common soft tissue sarcoma of the head and neck in childhood. Orbital rhabdomyosarcoma is one of the few life-threatening conditions that first presents to the ophthalmologist. Hence, prompt diagnosis is of vital importance.
In this case, we wish to highlight some of our observations in retrospect. Firstly, we did not have preoperative imaging of the orbit since the age, symptoms, and location of the mass were clinically suggestive of a more common and benign amniocele. The swelling being non-pulsatile and lying below the medial canthal tendon clinically made us exclude the differential diagnosis of a meningocele/encephalocele (had we suspected these, again neuro-orbital imaging would have been done straight away). The HPE report of embryonal rhabdomyosarcoma was a complete diagnostic surprise.
Though a less common possibility, rhabdomyosarcoma should be considered as a differential diagnosis for any unexplained, progressive adnexal mass in relation to the orbit, especially in the pediatric age group. Mohammad Sharifi described a lid mass that turned out to be embryonal rhabdomyosarcoma in a 15-year-old individual. Burkat et al. presented an 11 years/male with features of acute dacryocystitis that did not respond to conventional treatment, and a biopsy revealed embryonal rhabdomyosarcoma. Baron et al. in 1993 reported a 5 months old male baby with acquired epiphora and right inferomedial lower mass. After the trial of conventional treatment, biopsy proved it an embryonal rhabdomyosarcoma. Neffendorf et al. in 2014 reported an adult-onset (31/M) alveolar rhabdomyosarcoma.
Our patient is a 5-month-old child with epiphora and swelling below the medial canthal tendon. Initially, it was suspected to be an amniocele. Subsequent biopsy proved to be an embryonal rhabdomyosarcoma. The need for tissue sampling and HPE cannot be overemphasized. Where appropriate, further investigations including immunohistochemistry and advanced radiological investigation including positron emission tomography (PET scan) may offer additional information related to tumor type and behavior including metastasis at presentation. Once the histopathology diagnosis is confirmed, it should be followed by a prompt metastatic workup.
The above clinical example also supports the need for continued monitoring and follow-up of children with HPE-proven adnexal rhabdomyosarcoma. This is the first case reported of isolated lacrimal sac rhabdomyosarcoma. We also wish to suggest that we need to have a lower threshold for prior imaging in non-resolving swelling over the lacrimal sac region, especially in the pediatric age group.
| Conclusion|| |
Imaging for lacrimal sac swelling(s) in a child will be needed to avoid surprises during probing. Fast-growing mass anywhere in the eye other than the orbit should also raise suspicion of rhabdomyosarcoma in the pediatric age group. Intranasal endoscopy needs to be done to rule out an extension of the tumor.
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|| |
Karcioglu ZA, Hadjistilianou D, Rozans M, DeFrancesco S. Orbital rhabdomyosarcoma. Cancer Control 2004;11:328-33.
Rao AA, Naheedy JH, Chen JYY, Robbins SL, Ramkumar HL. A clinical update and radiologic review of pediatric orbital and ocular tumors. J Oncol 2013:2013:1-22. doi: 10.1155/2013/975908.
Shields CL, Shields JA, Honavar SG, Demirci H. Primary ophthalmic rhabdomyosarcoma in 33 patients. Trans Am Ophthalmol Soc 2001;99:133-43.
Naveen AJ, Abhayakumar SM, Rachan S, Nagesh S, Kavitha S, Arunakumari BS, et al
. Pediatric orbital rhabdomyosarcoma: A single institute retrospective study. Int J Health Sci Res 2014;4:40-3.
Jurdy L, Merks JHM, Pieters BR, Mourits MP, Kloos RJHM, Strackee SD, Saeed P. Orbital rhabdomyosarcomas: A review. Saudi J Ophthalmol 2013;27:167-75.
Sharifi M. Embryonal rhabdomyosarcoma of the upper lid in a 15 year old patient. Case Rep Ophthalmol Med 2014;2014:1-4. doi: 10.1155/2014/157053.
Burkat CN, Lucarelli MJ. Rhabdomyosarcoma masquerading as acute dacryocystitis. Ophthalmic Plast Reconstr Surg 2005;21:456-8.
Baron EM, Kersten RC, Kulwin DR. Rhabdomyosarcoma manifesting as acquired nasolacrimal duct obstruction. Am J Ophthalmol 1993;115:239-42.
Neffendorf JE, Bagdonaite L, Mudhar HS, Pearson AR. Adult alveolar rhabdomyosarcoma of the lacrimal sac. Orbit 2014;;33:468-70.
[Figure 1], [Figure 2], [Figure 3], [Figure 4]