Bilateral retinoblastoma with calvarial metastasis

Case contributed by Abiola Ayodele
Diagnosis almost certain

Presentation

Protrusion of the left eye, leukocoria in the right eye, and progressive scalp swellings.

Patient Data

Age: 2 years
Gender: Female

There is a very large heterogeneously enhancing exophytic soft tissue mass, occupying the entire left orbit, and bulging exteriorly. The mass engulfed and displaced the left globe anteriorly. The left globe harbors amorphous calcifications. There is an increase in the volume of the left orbit, however, the bony boundaries are intact. A small intraocular calcification is also seen within the right globe at the level of the retina. The extraocular muscles and optic nerves are within normal limits. No intracranial extension is seen.

There are multiple calvarial (frontal, parietal, and sphenoid bones) metastasis with large soft tissue components and spiculated sunburst periosteal reactions. The calvarial masses have both extracranial and extra-axial components.

Case Discussion

Retinoblastomas are the most common intraocular neoplasms found in childhood. It may be sporadic or secondary to a germline mutation of the retinoblastoma protein tumor suppressor gene. Unilateral tumors occur in 60-70% of cases and are sporadic in 85% of cases whereas, a germline mutation causes 15%. Bilateral tumors occur in about 30-40% of cases and essentially always have a germline mutation. Most cases are diagnosed within the first four years of life, with a median age of diagnosis of 18-24 months.

Retinoblastomas may metastasize via direct spread along the optic nerve into the brain, or hematogeneously to the bone, bone marrow, and liver. Occasionally, retinoblastoma bone metastasis may incite spiculated sunburst periosteal reaction with soft tissue components as demonstrated in this case. Other tumors with spiculated bone metastasis include neuroblastoma and prostate cancer.

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