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


CONCLUSIONS
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.
Català-Mora
J
J
Servicio de Oftalmología, Unitat de Retinoblastoma, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, España. info@jaumecatala.com
Parareda-Salles
A
A
Vicuña-Muñoz
C G
CG
Medina-Zurinaga
M
M
Prat-Bartomeu
J
J
D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D001082:Aqueous Humor / Q000737:chemistry; D014408:Biomarkers, Tumor / Q000032:analysis; D016190:Carboplatin / Q000008:administration & dosage; D002675:Child, Preschool; D005047:Etoposide / Q000008:administration & dosage; D015353:Eye Enucleation; D005134:Eye Neoplasms / Q000737:chemistry / Q000175:diagnosis* / Q000188:drug therapy / Q000473:pathology / Q000601:surgery; D006801:Humans; D007770:L-Lactate Dehydrogenase / Q000032:analysis; D008297:Male; D009361:Neoplasm Invasiveness; D009363:Neoplasm Proteins / Q000032:analysis; D012175:Retinoblastoma / Q000737:chemistry / Q000175:diagnosis* / Q000188:drug therapy / Q000473:pathology / Q000601:surgery; D013577:Syndrome; D015867:Uveitis, Intermediate / Q000209:etiology*; D014750:Vincristine / Q000008:administration & dosage
D014408:Biomarkers, Tumor; D009363:Neoplasm Proteins; D014750:Vincristine; D005047:Etoposide; D016190:Carboplatin; D007770:L-Lactate Dehydrogenase