SUMMARY:A 7-year-old boy presented with angle-closure glaucoma, initially presumed to be idiopathic. A ciliary body mass was later detected on MR imaging, suggestive of medulloepithelioma but pathologically proved to be diffuse infiltrating retinoblastoma. We discuss the patient management and review the literature, with emphasis on the role of CT and MR imaging in evaluating pediatric angle-closure glaucoma and in influencing the management of patients with retinoblastoma and medulloepithelioma.
Retinoblastoma is the most common intraocular tumor in children. Ninety-five percent of cases occur in patients younger than 5 years with a mean age of 18 months.1 Medulloepithelioma occurs in older children, with mean age of 4 years.2,3 As opposed to retinoblastoma, which typically arises in the sensory retina, medulloepithelioma almost always occurs in the ciliary body and is the primary consideration for an anterior segment mass in pediatric patients.
1-3The most frequent alternative diagnosis for a pediatric anterior segment mass is diffuse infiltrating retinoblastoma. Compared with conventional retinoblastomas, this variant typically occurs in older pediatric patients, overlapping the age group of medulloepithelioma. 2,4,5 Given that both can elevate intraocular pressures, imaging plays an important role in identifying neoplastic etiologies in children with angle-closure glaucoma. Furthermore, MR imaging defines the local extent of such lesions, profoundly impacting management.
Case ReportA 7-year-old boy presented with left orbital pain, decreased vision, and findings of cataracts and angle-closure glaucoma with unrevealing funduscopic examination and orbital sonography. Six months after undergoing an Ahmed anterior chamber shunt surgery procedure for presumed idiopathic angle-closure glaucoma, he developed a white anterior chamber mass, initially believed to be a hypopyon from presumed granulomatous uveitis. He then underwent a nonconjunctival-disrupting procedure with fine-needle aspiration. Cytologic analysis revealed small malignant cells with scant cytoplasm, positive for synaptophysin and chromogranin immunostains, yielding a preliminary diagnosis of retinoblastoma.CT and MR imaging of the orbits demonstrated a noncalcified diffuse infiltrating mass involving a detached retina and anterior segment in the left globe (Fig 1), suggesting either advanced medulloepithelioma or diffuse infiltrating retinoblastoma. The patient subsequently underwent enucleation, providing a final pathologic diagnosis of retinoblastoma (Fig 2).
DiscussionGlaucoma in the first decade of life should be thoroughly evaluated for an ocular neoplasm. Up to 17%-22.8% of patients with retinoblastoma have increased intraocular pressures typically due to iris neovascularization.6,7 However, with diffuse infiltrating retinoblastoma subtypes, glaucoma can result from neoplastic seeding of the trabecular meshwork in the anterior chamber, causing outflow obstruction of the aqueous humor.
6Retinoblastoma has 4 different growth patterns: endophytic...