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Trilateral retinoblastoma: a case report.

Eun Yoon Cho1, Yeon Lim Suh, Hyung Jin Shin

  • 1Department of Diagnostic Pathology, Samsung Medical Center, Sungkyunkwan University School of Medicine, 50 Ilwon-dong, Kangnam-gu, Seoul 135-710, Korea.

Journal of Korean Medical Science
|February 19, 2002
PubMed
Summary

Trilateral retinoblastoma, a rare syndrome, involves brain tumors alongside eye cancer. This case highlights a sellar mass and concurrent unilateral retinoblastoma in an infant, emphasizing the need for thorough screening.

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Area of Science:

  • Pediatric Oncology
  • Neuro-oncology
  • Ophthalmology

Background:

  • Trilateral retinoblastoma is a rare syndrome characterized by concurrent or sequential occurrence of bilateral retinoblastoma and a primitive neuroectodermal tumor of the brain.
  • These intracranial tumors typically arise in the pineal or suprasellar regions, often years after successful treatment of ocular retinoblastoma.

Observation:

  • This report details a unique case of trilateral retinoblastoma in a 5-month-old infant presenting initially with a sellar mass and concurrent unilateral retinoblastoma.
  • The infant exhibited poor eye contact and nystagmus; brain MRI confirmed a midline suprasellar tumor without signs of metastasis.
  • Pathological diagnosis confirmed retinoblastoma in both the brain tumor and the left eye.

Findings:

  • This is the first reported case of trilateral retinoblastoma in Korea presenting with a sellar mass.

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  • The patient had no family history of retinoblastoma, suggesting a de novo mutation or incomplete family history.
  • The findings underscore the importance of considering trilateral retinoblastoma in infants with midline brain tumors.

    • Implications:

    • Early detection of intracranial retinoblastoma, especially in the sellar region, necessitates comprehensive ophthalmologic screening for concurrent retinal tumors.
    • Given the hereditary nature and poorer prognosis associated with trilateral retinoblastoma, genetic counseling is crucial for affected families.
    • This case expands the clinical spectrum of trilateral retinoblastoma presentation and highlights diagnostic challenges in young infants.