Astrocytic hamartoma in tuberous sclerosis mimicking necrotizing retinochoroiditis.
A pale, elevated peripapillary lesion discovered in a young child with no family history of phakomatoses, grew larger, caused vitreous hemorrhage and underwent necrosis. Secondary inflammation developed in the eye, finally producing rubeosis irides with elevated intraocular pressure and a blind, painful eye which required enucleation. Clinically, the lesion was variably diagnosed and treated as toxoplasmosis and toxocara canis. These diagnoses were made despite low titres, a negative ELISA test and a normal eosinophil count. On histopathologic examination, a diagnosis of toxocara canis was entertained, although no remnants of the organism could be found in serial sections. Years later, when a family history of tuberous sclerosis became apparent, a diagnosis of astrocytic hamartoma of the retina with secondary hemorrhage and inflammation was made on the basis of re-examination of the pathologic specimen and special stains.
D000328:Adult; D002825:Chorioretinitis / Q000175:diagnosis* / Q000473:pathology; D003937:Diagnosis, Differential; D003951:Diagnostic Errors; D005260:Female; D006222:Hamartoma / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D007816:Larva Migrans, Visceral / Q000175:diagnosis; D009336:Necrosis; D009369:Neoplasms / Q000175:diagnosis / Q000473:pathology; D012164:Retinal Diseases / Q000175:diagnosis* / Q000473:pathology; D014126:Toxoplasmosis, Ocular / Q000175:diagnosis; D014402:Tuberous Sclerosis / Q000175:diagnosis* / Q000473:pathology