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Diffuse Infiltrating Retinoblastoma: A Rare Presentation Mimicking Uveitis

Case study of a 5-year-old boy with whitish materials in the left eye, leading to a diagnosis of diffuse infiltrating retinoblastoma. Detailed ocular and general history, investigations, differential diagnosis, treatment, consequences, and final diagnosis are discussed in this report.

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Diffuse Infiltrating Retinoblastoma: A Rare Presentation Mimicking Uveitis

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  1. Diffuse infiltrating retinoblastoma <<Hsi-Kung Kuo, MD., Linda Yi-Chieh Poon, MD., I-Hui Yang, MD., Shiu-Mei Huang, MD.>> <<Kaohsiung Chang Gung Memorial Hospital, Kaohsiung, Taiwan>>

  2. Ocular and General History • 5 years old boy • Unremarkable birth history (BBW: 2800g, full-term) • No preceding trauma or ocular history

  3. First Presentation • Chief complaint: • Whitish materials in the left eye for 4 days • VA: 20/20 OD, 20/70 OS • IOP: 17mmHg OD, 34mmHg OS • Anterior segment OS: • White iris nodules, pseudohypopyon, large white KPs • Fundus OS: • Snowballs + snowbanking vit. opacity

  4. Investigations - Lab • Complete blood count: negative • CRP/ESR: negative • Serology: negative • Syphilis, mycoplasma, toxoplasma, CMV, HSV, EBV • Autoimmune markers: negative • ANA, RF, anti-dsDNA, HLA-B27

  5. Investigation - Image • Chest x-ray: normal • B-scan • Presence of vitreous opacity • No mass or calcification • Orbital CT scan • Fusiform soft tissue density at inferior region of globe • No calcification

  6. Probable differential diagnosis • Granulomatous panuveitis OS, complicated with IOP elevation • nature?

  7. Treatment • Empirical treatment • Topical steroid (prednisolone acetate 1% oph susp QID) • Antiglaucoma medication (dorzolamide 2% oph susp BID) • Long-acting cycloplegics (atropine 0.5% eye drops BID)

  8. Second presentation: 4 weeks later • Persistant elevation in IOP: 37mmHg OS • Increase in pseudohypopyon • Mild decrease in iris nodules and keratic precipitates

  9. Revised differential diagnosis • Masquerade syndrome, retinoblastoma highly suspected

  10. Consequences • Direct enucleation of left eye without fine needle aspiration biopsy • Histopathological diagnosis: • poorly differentiated retinoblastoma with tumor invasion involving retina, choroid, sclera, ciliary body, trabecular meshwork, iris, corneal endothelium

  11. HE stain, 400X

  12. sclera iris iris TM Ciliary body lens HE stain, 40X HE stain, 40X HE stain, 100X Optic nerve Corneal endothelium HE stain, 40X

  13. Final Diagnosis • Diffuse infiltrating retinoblastoma OS • An atypical presentation of retinoblastoma • Lack of discrete retinal mass or calcification • Extensive seeding of tumor cells into vitreous and anterior chamber producing an inflammatory appearance mimicking uveitis • Patient presented at an older age than the typical retinoblastoma patients

  14. Conclusion • Retinoblastoma can present in a diffuse infiltrating pattern in rare cases • Keep this differential diagnosis when encountering pediatric patients presenting with an atypical uveitis

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