TUBEROUS SCLEROSIS IN INFANCY

Purpose: To report two infants with tuberous sclerosis who initially w ere considered to have retinoblastoma, Patients and Methods: An 8-day- old infant was referred with small tumors in the posterior poles of bo th eyes. A left microphthalmos with ciliochoroidal coloboma was presen t. Computed tomographic (CT) scanning of the brain showed scattered hi gh-density subependymal foci in the lateral ventricle thought to be co nsistent with calcification resulting from intrauterine viral infectio n. Argon laser photocoagulation was applied to lesions in the right ey e, Because one tumor was situated on the retina straddling the colobom a in the left eye, external beam radiotherapy was administered. A 5-mo nth-old girl presented with a large mass in a left microphthalmic eye. Calcification was present on B-scan ultrasonography and CT scanning, Vitreous seeding was noted to originate from the tumor. The contralate ral eye manifested four small gray translucent retinal tumors in the p osterior pole. CT scan and magnetic resonance imaging (MRI) revealed m ultiple periventricular subependymal lesions, including one at the for amen of Monro. Results: Repeated examinations in the younger child und er anesthesia revealed small new retinal lesions that appeared to enla rge gradually, She developed intractable seizures and her electroencep halogram revealed a modified hypsarrhythmia recording. A careful revie w of available CT scans and MRI displays suggested the diagnosis of tu berous sclerosis. The child's most recent examination under anesthesia revealed multiple newly developed hamartomas, In the older child, pro mpt diagnosis was made on the basis of the intracranial radiologic fin dings. Conclusion: Retinal hamartoma presentation may vary In infancy, Small, initially fleck-like gliotic lesions appear to enlarge gradual ly and eventually may form gray, translucent tumors. Large astrocytic hamartomas of the retina associated with tuberous sclerosis may resemb le retinoblastoma, particularly if the mass is large, calcified, and a ssociated with vitreous seeding. Although ophthalmic presentation was reminiscent of retinoblastoma in both patients, radiologic evidence of subependymal hamartomas pathognomic for tuberous sclerosis helped est ablish the correct diagnosis, We stress the importance of intracranial radiologic findings ire this regard.