Advanced-Stage Retinoblastoma with Systemic Manifestations Due to Delayed Diagnosis of Congenital Leukocoria: A Case Report

Vollständiger Abstract

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Background: Retinoblastoma is the most common primary intraocular malignancy in children, with leukocoria as its hallmark clinical sign. Delayed diagnosis may lead to advanced disease, extraocular extension, and a poor prognosis. Case Presentation: A 2-year-4-month-old girl presented to the emergency department with recurrent vomiting, weakness, and decreased activity. Leukocoria of the left eye had been noted since birth but had never been medically evaluated. Ophthalmologic examination revealed no light perception, proptosis, leukocoria, a mid-dilated nonreactive pupil, and restricted extraocular movements in the left eye. B-scan ultrasonography demonstrated a solid intraocular mass suggestive of retinoblastoma. Computed tomography revealed a calcified intraorbital mass with irregular thickening of the left optic nerve and mild cerebral edema, raising suspicion of optic nerve invasion. The patient was classified as Group E retinoblastoma according to the International Intraocular Retinoblastoma Classification and as stage III according to the International Retinoblastoma Staging System. Discussion: This case highlights how nonspecific systemic manifestations may obscure the diagnosis of retinoblastoma and contribute to delayed recognition. Persistent leukocoria that remains unevaluated may progress to advanced disease with possible extraocular extension and a high risk of metastasis. Conclusion: Early recognition of leukocoria and routine red reflex screening are essential for preventing delayed diagnosis and disease progression in children with retinoblastoma.