To report a child with retinoblastoma and Waardenburg syndrome who developed ovarian metastases.Interventional case report.Unilateral retinoblastoma was diagnosed in a 3-year-old girl with Waardenburg syndrome and leukocoria in the right eye. The patient had a Reese-Ellsworth Group Va tumor and underwent enucleation. Two years later, she developed metastatic disease involving the bone marrow, right humerus, both supraorbital bones, and both tibias. She was treated with chemotherapy, orbital irradiation, and bone marrow transplant but returned 7 months later with back pain and urinary retention.Exploratory laparotomy revealed a right ovarian mass, and the excised ovary showed metastatic retinoblastoma. The child underwent chemotherapy and remained asymptomatic for 9 months, when brain metastases were diagnosed. She died within 2 days of admission.We believe that this is the first description of a patient with retinoblastoma and Waardenburg syndrome and of an ovarian metastasis from retinoblastoma.
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View details for PubMedID 11992879