Abstract

ESCARIZ, Liliam Iris et al. TUBEROUS SCLEROSIS: CASE REPORT. Revista San Gregorio [online]. 2018, vol.1, n.24, pp.44-49. ISSN 2528-7907.

Bourneville disease, also known as Tuberous Sclerosis, is characterized by the presence of tumors in different organs, of a benign nature. It is transmitted in an autosomal dominant manner due to mutations in the TCS1 and TCS2 genes. Usually there is an association of three symptoms or triad where epilepsy is the cardinal symptom and is accompanied by mental retardation to a lesser or greater degree and angiofibromas in the face. Currently, the most frequent is to find the triad incompletely. We present the case of a 20-month-old patient with a clinical picture of 24 hours of evolution characterized by seizures. Personal pathological history of infantile spasms 7 months ago. Magnetic Resonance was performed to know the etiologic origin of seizures and was diagnosed with Brain Tuberose Sclerosis. The definitive diagnosis is multifactorial being the studies of images of an unquestionable value.

Keywords : Tuberous Sclerosis; Angiofibroma; Magnetic Resonance.

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