Primary Intraocular Malignant Rhabdoid Tumor Mimicking Retinoblastoma in a Child

Abstract

Primary rhabdoid tumors are highly malignant, rare tumors occurring in the renal, extrarenal soft tissue or central nervous system. They have non-specific radiological features and present with several histological components that create a problem in differential diagnosis with other embryonal tumors. We report a rare case of malignant rhabdoid tumor of the retina that presented with clinical features like those of retinoblastoma.

Primary orbital rhabdoid tumour masquerading as atypical persistent foetal vasculature

“…Primary intraorbital RTs are extremely rare: there are 12 previous case reports, all of whom had histologically confirmed RT 18–29. The median age at presentation was 1.8 months (IQR 0–14.5 months).…”

“…The majority of patients (75%) presented with rapid proptosis 18–23 25–27. Other presenting features included red mass-lesions adherent to the orbit18 24 28 and absent red reflex 29. Three patients had metastasis at the time of diagnosis: two with intracranial metastasis24 28 and one premature infant born at 32 weeks gestation presented with advanced metastatic disease including skin and lung metastasis 27.…”

“…Surgery and chemotherapy (±radiotherapy) were the mainstay of treatment. One patient passed away prior to initiation of treatment due to metastatic involvement 29. Of those treated, the majority received a partial or total resection of the tumour with surgery (73%).…”