An intraocular yolk sac tumor in a child

Chenyang Cong1, Hongsheng Bi, Wei Chen

  • 1Shandong University of Traditional Chinese Medicine, 48 Yingxiongshan Rd., Jinan, China.

Insights

Intraocular yolk sac tumors (YST) in children can be misdiagnosed as retinoblastoma (RB). Early diagnosis and treatment with enucleation and chemotherapy are crucial for favorable outcomes.

Area of Science:

  • Ophthalmology
  • Pediatric Oncology
  • Pathology

Background:

  • Retinoblastoma (RB) is the most common primary intraocular malignancy in children.
  • Yolk sac tumors (YST) are rare germ cell tumors that can occur in various locations, including the eye.

Observation:

  • A 2-year-old girl presented with a 2-month history of left eye swelling and pain.
  • Initial diagnoses at multiple hospitals were inconsistent, with a primary consideration of retinoblastoma (RB).

Findings:

  • Pathologic and immunohistochemical examination confirmed intraocular yolk sac tumor (YST).
  • The patient underwent enucleation and chemotherapy with a bleomycin, etoposide, and cisplatin regimen.
  • At 1-year follow-up, the patient remained in good health.

Implications:

  • Intraocular tumors in children lacking calcification should raise suspicion for YST.
  • Prompt diagnosis and multimodal treatment, including enucleation and chemotherapy, are vital for managing intraocular YST.
  • This case highlights the importance of considering rare diagnoses in pediatric ophthalmology to avoid misdiagnosis and ensure appropriate patient care.
Abstract