2-year-old Male with Leukocoria

Clinical Presentation

The patient is a previously healthy 2-year-old male presenting with leukocoria of the left eye. At 8 months old, he developed a small opacification in the center of the left pupil that was most noticeable in photos with flash. Over the past year, this has progressed to complete opacification of the eye. Associated symptoms include left eye discomfort, photophobia, and loss of balance. He was seen in the outpatient clinic and thought to have cataract but was referred to ophthalmology for further testing.

Physical Exam

External exam: Left globe more prominent when viewed from above
Anterior exam: Left pupil dilated with no reaction to light, iris widely dilated and fixed with a mass in the vitreous behind the lens

Radiology

The patient underwent MRI of brain, orbit, face, neck with and without contrast. MRI revealed multiple enhancing nodules along the bilateral globes, left greater than right, with associated left retinal detachment. There are no findings to suggest leptomeningeal spread. Findings are compatible with multifocal bilateral retinoblastoma.

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Alan H. Siegel, MD, Children’s National Hospital
Liny John, MD MSE MHS, Children’s National Hospital
Washington, DC

Details

Categories: Case Quiz