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Research Letter
March 2011

Diffuse Infiltrating Retinoblastoma With Central Nervous System Metastasis

Author Affiliations

Author Affiliations: Departments of Oncology and Vitreoretina (Dr Khetan) and Ocular Pathology (Drs Biswas and Kumar), Sankara Nethralaya, and Department of Medical Oncology, Apollo Hospitals (Dr Raja), Chennai, India; and Departments of Ophthalmology (Drs Al-Kharusi and Ganesh) and Child Health (Dr Al-Futaisi), Sultan Qaboos University Hospital, Sultanate of Oman.

Arch Ophthalmol. 2011;129(3):373-379. doi:10.1001/archophthalmol.2011.28

A diffuse infiltrating pattern of growth seen in 1% to 2% of retinoblastomas is associated with horizontal growth of tumor cells along the retinal tissue as well as retinal thickening. Vitreous and anterior segment seeding simulate uveitis.1 We describe a child who developed acute onset of headache and vomiting followed by visual loss in his right eye. Findings on clinical examination led to a diagnosis of diffuse infiltrating retinoblastoma with central nervous system involvement, which was confirmed following discovery of malignant cells in the cerebrospinal fluid (CSF).

A 10-year-old boy visited the pediatric emergency department with headache, vomiting, and altered sensorium of 3 days' duration. There was no history of fever or upper respiratory tract infection. The next day, he developed acute, painless diminution of vision in the right eye. Systemic examination results were unremarkable. Full blood cell count and workup for infectious diseases yielded negative results. Magnetic resonance imaging of the brain and orbit showed diffuse thickening and enhancement of the right optic nerve and meninges (Figure 1A and B). Lumbar puncture revealed normal opening pressure; CSF analysis showed low glucose and high protein content. With a tentative diagnosis of right optic neuritis with meningoencephalitis, the child was referred for ophthalmic examination. Findings on examination of the right eye showed visual acuity of no light perception, anterior chamber flare 1+, clumps of vitreous cells, a swollen optic disc, and a thickened superonasal retina (Figure 1C and D). B-scan ultrasonography of the right eye revealed medium-amplitude vitreous echoes, disc swelling, and thickened retina (Figure 2A). Repeated lumbar puncture showed clumps of malignant cells (Figure 2B), confirming the clinical suspicion of diffuse infiltrating retinoblastoma with CSF metastasis. The child was referred to the pediatric oncology department, where 15 cycles of intrathecal chemotherapy (12 mg of methotrexate, 30 mg of hydrocortisone acetate, and 25 mg of cytarabine) and 8 cycles of systemic chemotherapy (intravenous vincristine sulfate, 1.5 mg/m2, carboplatin, 560 mg/m2, and etoposide, 150 mg/m2) were administered. The child also received craniospinal radiation. With CSF becoming free of tumor cells and the optic nerve size reverting to normal (Figure 2C), enucleation of the right eye was performed. Histopathological examination of the globe revealed retinoblastoma cells diffusely infiltrating the retina and the optic nerve (Figure 2D). The cut end of the optic nerve and choroid were free of tumor cells.