Distant metastatic retinoblastoma without central nervous system involvement
A 5-year-old boy presented with prominence of the right eyeball since the past 5 months. There was a past history of the parents noticing whitish reflex in the right eye since past 1 year. There was no positive family history. Examination under anesthesia revealed the right eye to have proptosis of more than 8 mm with extraocular mass, and anterior segment details were all obscured []. The left eye anterior segment was normal and the fundus showed a 4 × 3 × 2 mm partly calcified tumor in the supero-nasal periphery and a 1 × 1 × 1 mm fully calcified regressed tumor in the infero-temporal periphery. Computed tomography (CT) scans were classical of a bilateral retinoblastoma with right eye extraocular and optic nerve extension. However, there was no intracranial extension []. A systemic workup including bone marrow biopsy and cerebrospinal fluid (CSF) analysis was done. Bone marrow was positive for tumor deposits of malignant round cells. The cells were small with scant rim of cytoplasm and a round hyperchromatic nucleus with prominent nuclear molding. The CSF cytology was within normal limits. Based on this, a diagnosis of metastatic retinoblastoma stage IV a (distant metastatic retinoblastoma without CNS involvement) was made. The patient was started on a 3-weekly high-dose chemotherapy protocol with vincristine, etoposide and carboplatin (VEC regime). Following four cycles, the right eye proptosis resolved and there was atrophic bulbi with total vascularized corneal scar. The left eye tumor regressed completely.\nThe patient was then lost to follow-up and again presented with mild proptosis in the right eye. Examination under anesthesia revealed right eye upper periocular edema and numerous firm and tender swellings on the forehead and scalp [] with large areas of thin scleral ectasia. Left eye was found to have regressed tumors. CT scans showed the right eye to have similar findings as noted in the initial visits, but in addition, there was diffuse heterogeneous mass involving the frontal bones and the superior orbits with diffuse, irregular bony erosions []. Fine needle aspiration cytology (FNAC) of the forehead lesion, bone marrow biopsy and CSF analysis were done. Bone marrow biopsy and FNAC were positive for tumor deposits of malignant round cells []. The systemic condition of the child was poor. An impression of extensive skeletal metastasis was made and the patient is currently on a palliative chemotherapy with high dose of vincristine, etoposide and carboplatin. At current follow-up of 4 months following palliative therapy, the patient is stable.