A 10-month-old girl was evaluated for unilateral leukokoria. Quick growth in association with normal growth hormone levels occurred during the first years of development.
Physical features were characteristic of Sotos syndrome (Figure 1). Developmental delay was also observed.
Funduscopy revealed a white retroequatorial endophytic retinal mass with vitreous seedings and multiple cysts emerging and floating within the gel (Figure 2), consistent with retinoblastoma in a grade Vb stage according to the Reese-Elsworth classification. Ocular examination results were otherwise normal. She was treated with radiotherapy and cryotherapy. At last follow-up at age 13 years, the tumor had a type IV regression pattern while the vitreous cysts remained unchanged.
Ruiz del Río N, Abelairas Gómez JM, Peralta Calvo JM, Miranda Lloret P. Atypical Retinoblastoma in Sotos Syndrome (Cerebral Gigantism). Arch Ophthalmol. 2007;125(4):578-580. doi:10.1001/archopht.125.4.578-b