Tuberous sclerosis in infancy.
OBJECTIVE
To report two infants with tuberous sclerosis who initially were considered to have retinoblastoma.


METHODS
An 8-day-old infant was referred with small tumors in the posterior poles of both eyes. A left microphthalmos with ciliochoroidal coloboma was present. Computed tomographic (CT) scanning of the brain showed scattered high-density subependymal foci in the lateral ventricle thought to be consistent with calcification resulting from intrauterine viral infection. Argon laser photocoagulation was applied to lesions in the right eye. Because one tumor was situated on the retina straddling the coloboma in the left eye, external beam radiotherapy was administered. A 5-month-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 contralateral eye manifested four small gray translucent retinal tumors in the posterior pole. CT scan and magnetic resonance imaging (MRI) revealed multiple periventricular subependymal lesions, including one at the foramen of Monro.


RESULTS
Repeated examinations in the younger child under anesthesia revealed small new retinal lesions that appeared to enlarge gradually. She developed intractable seizures and her electroencephalogram revealed a modified hypsarrhythmia recording. A careful review of available CT scans and MRI displays suggested the diagnosis of tuberous sclerosis. The child's most recent examination under anesthesia revealed multiple newly developed hamartomas. In the older child, prompt diagnosis was made on the basis of the intracranial radiologic findings.


CONCLUSIONS
Retinal hamartoma presentation may vary in infancy. Small, initially fleck-like gliotic lesions appear to enlarge gradually and eventually may form gray, translucent tumors. Large astrocytic hamartomas of the retina associated with tuberous sclerosis may resemble retinoblastoma, particularly if the mass is large, calcified, and associated with vitreous seeding. Although ophthalmic presentation was reminiscent of retinoblastoma in both patients, radiologic evidence of subependymal hamartomas pathognomic for tuberous sclerosis helped establish the correct diagnosis. We stress the importance of intracranial radiologic findings in this regard.
Mullaney
P B
PB
King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
Jacquemin
C
C
Abboud
E
E
Karcioglu
Z A
ZA
D003937:Diagnosis, Differential; D004453:Echoencephalography; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D017075:Laser Coagulation; D008279:Magnetic Resonance Imaging; D008297:Male; D012164:Retinal Diseases / Q000175:diagnosis* / Q000532:radiotherapy / Q000601:surgery; D019572:Retinal Neoplasms / Q000175:diagnosis; D012175:Retinoblastoma / Q000175:diagnosis; D014057:Tomography, X-Ray Computed; D014402:Tuberous Sclerosis / Q000175:diagnosis* / Q000532:radiotherapy / Q000601:surgery