A case of retinoblastoma masquerading as endophthalmitis: Unusual presentation and clinicopathological correlation

Abstract

Introduction: Retinoblastoma is a serious childhood intraocular neoplasm that can be diagnosed clinically with the aid of B-scan ultrasound, and radiological examination. On the other hand, the differential diagnosis includes benign and other masquerading conditions such as uveitis and endophthalmitis thus adding challenge to the proper diagnosis.

Presentation of case: A six-year-old girl presented with leukocoria and decreased vision of the right eye. Patient was diagnosed and treated as a case of endophthalmitis elsewherewith no improvement. She was re-evaluated in our hospital and found to have cataract with ruptured capsule, and no view to the fundus. B scan was conducted and showed posterior cavity mass with calcification, and retinal detachment. Retinoblastoma was suspected and proved by examination under anesthesia. Enucleation was carried out and the diagnosis was further confirmed by histopathological examination.

Discussion: Diagnosis of retinoblastoma can be challenging since leukocoria is the most common presenting complaint, which can be also seen in other benign conditions such as Coat's disease. It may also masquerade as endophthalmitis, uveitis with or without glaucoma, and retinal detachment. High suspicious of retinoblastoma in children and appropriate examination and work up with the aid of Biomicroscopy and radiological examination will help reaching the appropriate diagnosis saving patients unnecessary interventions with related morbidity.

Conclusion: Retinoblastoma has a wide spectrum of clinical presentations and must be ruled out before performing any intraocular procedure.

Keywords: Case report; Endophthalmitis; Intravitreal injection; Masquerade; Retinoblastoma; Uveitis.

Graphical abstract

Fig. 1

A: Ultrasound biomicroscopy (UBM) of the right eye demonstrating posterior cavity mass and a ruptured lens. B: B-scan of the right eye demonstrating dense vitreous opacities with area of calcification and acoustic shadowing.

Fig. 2

A: Fat suppressed Axial T2-weighted and B: FLAIR sequence and C,D: Post-contrast axial and sagittal magnetic resonance imaging of retinoblastoma with funnel shaped retinal detachment typically showing low signal intensity compared to the vitreous body on T2-weighted images (and FLAIR sequence white arrow) with increased vitreous signal in FLAIR (black arrow) with heterogenous contrast enhancement, vitreous seeding with marked blooming hemorrhage (double head white arrow) behind the deformed thinned lens (complicated cataract). A suspicious entry needle site (white dashed arrow).

Fig. 3

A: Conjunctival injection inferiorly at the propable site of vitreous tap and intravitreal injection. B: An external photo exhibiting a white mass with hemorrhage seen behind the lens through a dilated pupil.

Fig. 4

A &B: The histopathological appearance of the enucleated globe showing anterior chamber and iris invasion by retinoblastoma (Original magnification x50 in A and x200 in B, Hematoxylin and eosin). C: Higher power of the undifferentiated retinoblastoma (Original magnification x400 Hematoxylin and eosin). D: The ruptured cataractous lens with leaking lens material and retrolental vitreous seeding by tumor cells (Original magnification x200 Periodic acid Schiff).