Tuberous sclerosis associated with histologically confirmed ocular and cerebral tumors

The clinical, neuroradiologic, and pathologic features of an unusual retinal and cerebral giant cell astrocytoma in a 24-year-old man with tuberous sclerosis are reported. The patient was referred at 3 years of age because of partial seizures from the first months of life, severe mental retardation, and left microphthalmos. The microphthalmic eye presented slow growth from 9 years of age and was enucleated at age 18 years because of exophthalmos and pain. At age 23 years, the patient experienced sudden and severe headache. Magnetic resonance imaging revealed a voluminous cystic tumor in the region of the foramen of Monro, lateral ventricle, and basal ganglia of the right cerebral hemisphere. Pathologic examination of the enucleated eye and of the cerebral tumor disclosed the same histologic findings in both locations, a giant cell astrocytoma.