• Arch Soc Esp Oftalmol · Sep 2009

    Case Reports

    [Uveitis masquerade syndrome as a presenting form of diffuse retinoblastoma].

    • J Català-Mora, A Parareda-Salles, C G Vicuña-Muñoz, M Medina-Zurinaga, and J Prat-Bartomeu.
    • Servicio de Oftalmología, Unitat de Retinoblastoma, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, España. info@jaumecatala.com
    • Arch Soc Esp Oftalmol. 2009 Sep 1;84(9):477-80.

    Clinic ReportA 3-year-old boy presented with an intermediate uveitis. Complete ophthalmic exam, ocular ultrasonography, magnetic resonance imaging and computerized tomography of the orbit were inconclusive. Determination of the aqueous humor/serum rate of Lactate dehydrogenase (LDH) was the key for the diagnosis of a diffuse retinoblastoma.DiscussionA masquerade syndrome is the initial presentation in 1-3% of retinoblastomas. Aqueous humor punction is contraindicated in patients with retinoblastoma but it might be the only way to achieve a correct diagnosis in these difficult and very unusual cases: enzymatic assays such as LDH offer a good sensitivity and specificity for the diagnosis of these patients.

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