An infant with Down syndrome and retinoblastoma. A possible non-fortuitous association.

D Satgé, P Gembara, A J Sasco, C Francannet, L Desjardins, M Vekemans, F Demeocq

Journal: Ophthalmic genetics 2001;22(2):117-23

PMID: 11449321

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Abstract

AIM

To evaluate the association between Down syndrome and retinoblastoma.

METHOD

Presentation of a case report and review of the literature.

RESULTS

A retinoblastoma was observed in a 10-month-old boy with Down syndrome. A review of the literature yielded 14 other cases, suggesting a possible excess of retinoblastoma in Down syndrome, as previously proposed by two epidemiological studies. The possible roles of external physical agents and hyperplastic and dysplastic lesions of the retina in subjects with Down syndrome is discussed.

CONCLUSION

A positive association between Down syndrome and retinoblastoma is possible. An epidemiological study on this subject is needed to better ascertain this potential link.

Address: Laboratory of Pathology, Centre Hospitalier, Tulle, France.

DOI: 10.1076/opge.22.2.117.2229

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MeSH Terms: Child, Child, Preschool, Chromosomes, Human, Pair 21, Down Syndrome, Female, Humans, Infant, Magnetic Resonance Imaging, Male, Pedigree, Retinal Neoplasms, Retinoblastoma, Risk Factors