|Year : 2020 | Volume
| Issue : 1 | Page : 44-46
Neuroblastoma presenting as orbital metastasis: Case report and review of literature
Sucheta Parija, Aparajita Banerjee
Department of Ophthalmology, All India Institute of Medical Bhubaneswar, Odisha, India
|Date of Submission||14-Sep-2019|
|Date of Acceptance||24-Apr-2020|
|Date of Web Publication||08-Jul-2020|
Dr. Sucheta Parija
Department of Ophthalmology, All India Institute of Medical Bhubaneswar, Odisha,
Source of Support: None, Conflict of Interest: None
Neuroblastoma is the third most common extracranial neural malignancy of the childhood, with most cases getting diagnosed before the age of 5 years. Orbital metastasis is present in few number of such cases and ocular manifestation as the first sign of the disease is even rarer, which causes a great diagnostic dilemma. As the prognosis of these patients remains very poor, early diagnosis and aggressive treatment can be lifesaving. The case presented here is a patient of Stage 4 neuroblastoma with orbital manifestation as the first presenting feature, which led to diagnostic delay. The role of ophthalmologist in metastatic neuroblastoma can vary from making a clinical diagnosis and staging of the disease, monitoring ocular complications during active treatment, or as a supportive role in the entire management of the case.
Keywords: Neuroblastoma, orbital swelling, vincristine
|How to cite this article:|
Parija S, Banerjee A. Neuroblastoma presenting as orbital metastasis: Case report and review of literature. J Curr Oncol 2020;3:44-6
| Introduction|| |
Neuroblastoma is the third most common extracranial, neural malignancy of childhood which emerges along the sympathetic nervous system, with the adrenal gland being one of the common locations. More than one-third of the cases are diagnosed during infancy and 75% before 5 years of age. Clinical presentation is nonspecific and depends on the primary tumor and site of metastasis, hence a diagnostic challenge. Although orbital metastasis is documented, it carries poor prognosis with a mortality rate of 10%., This case highlights the ocular manifestations and recent management of the disease.
A 3-year-old boy was referred to us with swelling over the superolateral aspect of the left orbital margin of 1-month duration, which was painless and progressive in nature [Figure 1]. The parents complained of redness in the left eye for the past 3 days. There was no history of trauma or any systemic illness. On examination, the patient was stable and oriented. There was axial proptosis in the left eye with a firm, nontender superotemporal orbital mass with ill-defined margins measuring 1 cm x 1.5 cm and subconjunctival hemorrhage in the lateral aspect of bulbar conjunctiva. The finding of fundus examination was normal. Systemic examination revealed no lymphadenopathy, splenomegaly, or hepatomegaly.
|Figure 1: A 3-year-old boy with swelling over the superolateral aspect of the left orbital margin|
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The patient was advised for a series of laboratory tests, which revealed low hemoglobin level (8.2g/dL), elevated alkaline phosphate, and lactate dehydrogenase levels. Peripheral blood smear showed features of anisocytosis. Computed tomography (CT) of brain and orbits showed ill-defined soft-tissue density lesion in the superolateral aspect of the left orbit involving lacrimal gland, extraconal space, lateral rectus muscle, and frontotemporal lobe with adjacent bony remodeling [Figure 2]. Contrast-enhanced CT (CECT) of brain revealed multiple enhancing calvarial deposits with sunray speculations in frontal and frontoparietal bone and sutures. To rule out orbital metastasis, CECT scan of abdomen and pelvis was performed, which revealed a well-defined lobulated heterogeneously enhancing hypodense mass (7.4 cm × 5.6 cm × 4.7 cm) with areas of necrosis and calcification in the region of the left adrenal gland, encasing the aorta and its branches [Figure 3]. Fine-needle aspiration cytology (FNAC) from the mass showed clusters of discretely arranged small round cells with increased nuclear-cytoplasmic ratio, mild nuclear pleomorphism, and salt-and-pepper-type chromatin with scant cytoplasm [Figure 4]. Immunophenotyping of bone marrow aspirate revealed the same findings. The case was finally diagnosed as neuroblastoma of the left adrenal gland with orbital metastasis (Stage 4) by the pediatric oncologist. The patient received four cycles of chemotherapy with vincristine (1.5 mg/m2), carboplatin (750 mg/m2), etoposide (175 mg/m2), and cyclophosphamide (200 mg/m2). He developed hypertension and was lost to follow-up.
|Figure 2: Axial CT scan of orbits showing ill-defined soft-tissue density lesion in superolateral aspect of the left orbit involving lacrimal gland, extraconal space, lateral rectus muscle, sclera, and adjacent frontotemporal lobe|
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|Figure 3: CECT scan of abdomen and pelvis revealing a well-defined lobulated heterogeneously enhancing hypodense mass with areas of necrosis and calcification in the region of the left adrenal gland, encasing the aorta and its branches|
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|Figure 4: FNAC from the mass showing small clusters of discretely arranged small round cells with increased nuclear-cytoplasmic ratio, mild nuclear pleomorphism, and salt-and-pepper-type chromatin with scanty cytoplasm|
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| Discussion|| |
Neuroblastoma accounts for 8%–10% of all childhood cancers with a reported incidence of 1 in 7000 children approximately under 5 years of age., The most common sites of metastasis are bone marrow, cortical bone, and lymph nodes. Orbital metastasis is reported in 18%–20% of cases. Proptosis and periorbital ecchymosis are the classic signs of metastatic neuroblastoma, whereas Horner syndrome and opsoclonus are infrequent findings as described by Ahmed et al. Similarly, Yang et al. reported a 3-year-old girl with proptosis, ecchymosis, and mass in the face as the initial presenting features. Vallinayagamet al. reported the first primary orbital neuroblastoma where the child manifested with proptosis and ecchymosis.
The presentation of neuroblastoma depends on site of primary tumor and the site of metastasis. In our study, a 3-year-old boy was diagnosed as Stage 4 neuroblastoma who presented with proptosis and subconjunctival hemorrhage as the initial symptom with a diagnostic dilemma. It is difficult to differentiate this case clinically from other metastatic orbital tumors such as rhabdomyosarcoma, malignant lymphoma, and Wilms tumor, but radiological and histological findings confirmed the diagnosis. Proptosis in our case was due to metastasis to the orbit and subconjunctival hemorrhage because of pancytopenia secondary to bone marrow infiltration.
The clinical spectrum of neuroblastoma varies from spontaneous regression, maturation of benign ganglioneuroma to metastasis leading to death. International Neuroblastoma Staging System (INSS) 2 has classified ocular involvement in neuroblastoma as Stage 4 disease. Prognosis of neuroblastoma depends on the age of the patient at diagnosis and the site of metastasis. Newborns have the best prognosis followed by infants and toddlers. Skin and liver metastases have better prognosis than metastases to bone marrow, orbit, and pleura of lungs. Considering these facts, our case had poor prognosis as the metastasis involved bone and orbit.
For detection of bony metastasis bone scan using technetium 99m methylene diphosphonate is more sensitive than other methods. Metaiodobenzylguanidine (MIBG) positron emission tomography (PET) is superior in evaluation of Stage 4 disease. Orbital metastasis imaging can play a role in substratification of Stage M neuroblastoma in future.
Management of neuroblastoma is complex. Treatment of the primary disease is based on Children’s Oncology Group Neuroblastoma Risk Group Assignment Schema of low, intermediate, or high. Surgical resection is the main treatment for low-risk patients. For high-risk cases, surgical resection along with high-dose chemotherapy, stem cell rescue or myeloablative therapy, radiation therapy, and immunological rescue are other options. Nevertheless, the prognosis for high-risk patients remains poor as in our case who was aggressively treated with chemotherapy.
The varied ocular manifestations in systemic diseases can pose a great diagnostic challenge to the ophthalmologist. In children, such medically compromised conditions demand meticulous examination to come to a provisional diagnosis. Neuroblastoma is one of such cases that need early diagnosis and treatment as it leads to rapid metastasis and death.
| Conclusion|| |
Orbital swelling can manifest as the first presenting feature of metastatic neuroblastoma, which poses a diagnostic challenge. Hence, ophthalmologists and pediatricians should be aware of the ophthalmic presentations of neuroblastoma for early diagnosis and aggressive treatment.
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.
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