Trilateral retinoblastoma

Excerpt

Trilateral retinoblastoma is defined as hereditary retinoblastoma associated with an intracranial neuroblastic tumor. Retinoblastoma is the most common intraocular malignant neoplasm of childhood caused by inactivation of both copies of the tumor suppressor gene Rb1. There could be patients with a germline mutation of the retinoblastoma gene. With hereditary retinoblastoma, there is an increased incidence of a separate primary intracranial malignancy [1]. The intracranial tumor is seen as an enhancing mass in either the suprasellar or pineal region. Most intracranial tumors (83%) occur in the pineal region [2]. Figure 1 is a post-gadolinium sagittal T1 image of a 13-month-old boy with excessive thirst and increased urination. Fundoscopic examination revealed bilateral retinoblastomas, and there was laboratory evidence of diabetes insipidus. The MRI shows a solid enhancing mass extending from the pituitary into the suprasellar cistern and right cavernous sinus (not shown). Figure 2 is an image of a 6-month-old girl with bilateral retinoblastomas. A surveillance MRI shows a partially cystic enhancing mass in the pineal region (CT showed no calcification). Both children had trilateral retinoblastoma.

…