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Correspondence | April 2007

Atypical Retinoblastoma in Sotos Syndrome (Cerebral Gigantism)

Noemi Ruiz del Río, MD; Jose Manuel Abelairas Gómez, PhD; Jesús María Peralta Calvo, PhD; Pablo Miranda Lloret, MD

Arch Ophthalmol. 2007;125(4):578-580. doi:10.1001/archopht.125.4.578-b.

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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.

Figure 1.

Note some diagnostic features typically listed as Sotos syndrome, including large hands (A), large feet (B), facial features including leukokoria (C), and a dolichocephalic skull (D).

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Figure 1.

Note some diagnostic features typically listed as Sotos syndrome, including large hands (A), large feet (B), facial features including leukokoria (C), and a dolichocephalic skull (D).

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Figure 2.

Fundus photographs. A, Main tumor and vitreous seeds emerging from it. B, Note the additional presence of multiple cysts floating within the vitreous gel completely independent from the main tumor.

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Country-Specific Mortality and Growth Failure in Infancy and Yound Children and Association With Material Stature

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Ruiz del Río N, Abelairas Gómez J, Peralta Calvo J, 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.

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