Retinoblastoma metastatic to the ovary in a patient with Waardenburg syndrome.

PURPOSE: To report a child with retinoblastoma and Waardenburg syndrome who developed ovarian metastases.

DESIGN

Interventional case report.

METHODS

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.

RESULTS

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.

CONCLUSION

We believe that this is the first description of a patient with retinoblastoma and Waardenburg syndrome and of an ovarian metastasis from retinoblastoma.