Evaluation of Gait Abnormalities in Patients with a History of Retinoblastoma: One Year Follow Up

Background: The frequency of metastatic retinoblastoma (Rb) is rare, occurring in about 5% of Rb cases. This makes recognition and diagnosis of these patients challenging. The treatment outlook for metastatic Rb is far less promising than the primary malignancy. Current studies estimate survival rates of 80-90% for patients having metastatic disease without central nervous system (CNS) involvement, and 8% with CNS involvement. Case Information: A 5-year-old female with a history of unilateral Rb was ultimately treated with enucleation after unsuccessful effort to control intra-ocular disease with intra-arterial chemotherapy. Seven weeks after this procedure, she presented to clinic with an insidious onset limp. Symptoms progressed to include intermittent fevers and low back pain. Further imaging and work-up revealed relapse of Rb with widely metastatic disease involving multiple bones and bone marrow, but without CNS involvement. She then began chemotherapy per a national clinical protocol. She completed the treatment protocol thirteen months after the diagnosis of metastatic Rb. Disease re-evaluation via MRI of the brain, spine, and orbits was performed, and these studies were negative for residual identifiable disease. She continues with close follow-up and monitoring in her current state of remission. Conclusion: This patient initially presented with non-specific symptoms such as an intermittent limp with vague extremity and back pain. Thorough evaluation, diagnosis, and initiation of aggressive systemic treatment led to a rapid response and attainment of complete remission despite the widespread extent of disease at the time of relapse.