Fortún CA, Beades MA, Acosta CP

Language: Spanish
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Page: 981-986
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ABSTRACT

Introduction: tuberous sclerosis or Bourneville-Pringle disease is a neurocutaneous, autosomal dominant disease. It is characterized by benign tumors called hamartomas, which are usually found inside the brain, the retina and can affect multiple organs.
Case report: a 23-year-old patient with a history of epilepsy since childhood associated with papular lesions on the face and lumbosacral region, as well as hypopigmented areas on the skin, who attended the ophthalmology service due to a decrease in visual acuity in the right eye; images of pearly white appearance were found in both eyes , with ill-defined edges, located in the thickness of layers of the retina nerve fibers and normal campimetric study; the presence of cortical astrocytomas was proved in nuclear magnetic resonance.
Conclusions: the diagnosis of tuberous sclerosis is confirmed, justified by the presence of major criteria such as facial angiofibromas, gingival fibromas and cortical astrocytoma, as well as minor criteria such as retinal acne and intraoral fibromas plus the results obtained in nuclear magnetic resonance. The diagnosis made was based on the ophthalmological assessment of the patient.