Retinoblastoma with micrometastasis to CSF

A 28 mth old male presented with a squint and leukocoria. Clinical examination and computerized tomography (CT) suggested a unilateral retinoblastoma with distal optic nerve involvement. Investigations for distant metastasis including lumbar puncture cytology were negative. The eye was enucleated and 12 mm of optic nerve was excised via a combined neurosurgical/ophthalmological approach. Histopathological examination confirmed the optic nerve to the point of excision was free of tumor. However, cytology of cerebrospinal fluid (CSF) from the Sylvian fissure, taken at the time of surgery, revealed malignant retinoblastoma cells. The patient was treated with intrathecal and intravenous chemotherapy, and cranial radiotherapy. He is alive and well 4 yrs later. This case displays the importance of CSF cytology from the Sylvian fissure, as it dramatically changed the management and prognosis for the child. The role of lumbar puncture cytology in excluding CSF micrometastasis can be unreliable. A neurosurgical approach to the optic nerve has the potential to gain access to a long length of optic nerve, should it be involved with tumor, and also allows direct CSF sampling.