RESUMENCaso clínico: Paciente de tres años con sospecha de uveítis intermedia. La exploración oftalmológica, ecografía ocular, resonancia nuclear magnética y tomografía computerizada orbitaria no fueron concluyentes. La determinación de la tasa de lactato deshidrogenasa (LDH) en humor acuoso/suero fue la clave para llegar al diagnóstico de un retinoblastoma difuso. Discusión: El síndrome mascarada es la forma de debut en un 1-3% de los retinoblastomas. La punción de cámara anterior está contraindicada en pacientes con retinoblastoma pero podría ser la úni-ca forma de llegar a un diagnóstico correcto en estos casos difíciles y poco frecuentes. Las pruebas enzimáticas como la LDH nos ofrecen una buena sensibilidad y especificidad para el diagnóstico de estos pacientes.Palabras clave: Uveítis intermedia, LDH, mascarada, retinoblastoma. ABSTRACT Clinic report:A 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. Discussion: A 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 (Arch Soc Esp Oftalmol 2009; 84: 477-480).
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