Distant metastatic retinoblastoma without central nervous system involvement

Abstract

Retinoblastoma is the most common intraocular malignancy in children, with a reported incidence ranging from 1 in 15,000 to 1 in 18,000 live births. Metastatic retinoblastoma is rare in developed countries, with a reported range from 4.8% in the United States to 5.8% in the United Kingdom. However, the frequency reported from developing countries varies from 9 to 11% at presentation. The mortality is very high owing to late presentations, delayed diagnosis compounded by socio-economic factors. The management of metastatic retinoblastoma is evolving, but it is still a challenge in pediatric oncology. We present a case of an extensive skeletal metastasis that initially presented as a massive orbital retinoblastoma.

Figure 1

(a) Clinical photograph showing right eye orbital retinoblastoma; (b) CT scan (sagital reconstruction) showing right eye orbital retinoblastoma with optic nerve extension

Figure 2

(a) Clinical photograph showing extensive nodules on the forehead and scalp. Compare the right eye with that of Fig. 1a; (b) CT scan (sagital reconstruction) showing forehead nodules with underlying frontal bone erosions. Compare with CT scan in Fig. 1b

Figure 3

Bone marrow showing tumor deposits of malignant round cells (×400)