ASSOCIATION OF A SUPRASELLAR MASS AND INTRAOCULAR RETINOBLASTOMA - A VARIANT OF PINEAL TRILATERAL RETINOBLASTOMA

Objective and Importance: 'Trilateral retinoblastoma' designates the a ssociation of bilateral retinoblastomas with an ectopic (non-metastati c) intracranial primitive neuroectodermal tumor (PNET). Although the i ntracranial tumor, usually located in the pineal region, is seen 2-3 y ears after discovery of the bilateral ocular tumors, variant presentat ions do occur. The intraocular tumor can be unilateral, and the intrac ranial tumor can be suprasellar, presenting before the retinal lesions . Clinical Presentation: A 4-month-old boy presented with irritability , vomiting and nystagmus. Head CT revealed a large calcified sellar-su prasellar mass. Ocular examination disclosed white macular lesions in the right fundus. He was taken to surgery where subtotal resection of the sellar-suprasellar mass was achieved. Microscopic examination show ed a primitive, small, round, blue cell tumor consistent with retinobl astoma. The right ocular lesions, also consistent with retinoblastoma, were treated by cryo-surgery. Conclusion: The appearance of a suprase llar PNET can precede the appearance of retinal masses in retinoblasto ma. The literature suggests that patients with 'sellar' trilateral ret inoblastoma have characteristics that differ from patients with a pine al region trilateraI retinoblastoma: the intracranial mass more often presents initially; it occurs at a younger age; it is predominant in f emales, and is more often associated with unilateral ocular lesions. R etinal screening of patients with suprasellar PNET and other atypicall y located PNETs may disclose more cases of sellar 'trilateral retinobl astoma' and hereditary retinoblastomas. This will have implications on genetic counseling as siblings harboring the disease may be diagnosed and treated at an earlier stage.