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A Rare Case of Metastatic Retinoblastoma with Cervical Mass Presenting as a Massive Swelling in Child

Anita Kumari, Sushil Kumar

Retinoblastoma (Rb) is a common intraocular malignancy in childhood, due to mutation of RB1 gene, approximately one-third of these tumor are bilateral retinoblastoma, which are more heritable and usually found in younger children.

A 4 year old boy presented with swelling of left eye with proptosis and swelling extending up to cervical and parotid region, necrosed conjunctiva and cornea. Ocular examination included visual acuity, slit lamp examination. Detailed fundus evaluation after total mydriasis (right eye) under general anesthesia was done. Investigations like BScan; Computed Tomography/MRI imaging of orbit and brain was done. General examination to look for lymphadenopathy, hepatomegaly and bony swellings was done. Metastatic work-up included peripheral smear, bone marrow aspiration, CSF analysis, X-ray chest and USG abdomen. B-scan Ultrasonography indicated a mass under the retina in both eye (left>right). Orbital Computed Tomography scan was showing orbital soft mass with calcification.