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.
Publication types
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Case Reports
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English Abstract
MeSH terms
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Antineoplastic Combined Chemotherapy Protocols / therapeutic use
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Aqueous Humor / chemistry
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Biomarkers, Tumor / analysis
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Carboplatin / administration & dosage
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Child, Preschool
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Etoposide / administration & dosage
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Eye Enucleation
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Eye Neoplasms / chemistry
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Eye Neoplasms / diagnosis*
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Eye Neoplasms / drug therapy
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Eye Neoplasms / pathology
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Eye Neoplasms / surgery
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Humans
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L-Lactate Dehydrogenase / analysis
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Male
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Neoplasm Invasiveness
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Neoplasm Proteins / analysis
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Retinoblastoma / chemistry
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Retinoblastoma / diagnosis*
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Retinoblastoma / drug therapy
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Retinoblastoma / pathology
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Retinoblastoma / surgery
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Syndrome
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Uveitis, Intermediate / etiology*
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Vincristine / administration & dosage
Substances
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Biomarkers, Tumor
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Neoplasm Proteins
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Vincristine
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Etoposide
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Carboplatin
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L-Lactate Dehydrogenase