Esclerose Tuberosa – Relato de Caso

Abstract

Objective. Report a case of Tuberous Sclerosis on childhood. Meth­od. Database research and comparison with the case report. Results. Tuberous Sclerosis (TS) is an autosomal dominant disease that leads to the formation of hamartomas in multiple organs. From 80 to 90% of individuals affected by TS present seizures during the disease, and seizures are the first clinical sign in 90% of the cases. This female patient, aged 2 years 1 month, presented hypopigmented macules on right abdomen, right infrapatellar, left inguinal and left infraoc­cipital areas, as well as little erythematous nodules on the cheek and nose. Presented the first seizure at 4 years-old, associated to impaired neuropsychomotor development. Imaging exams demonstrated sub­ependimal nodules, suggesting a diagnosis of TS on childhood. The patient is being treated with phenytoin for seizures, obtaining control of the symptoms. Conclusions. The patient presented the two most common characteristics of TS – hypopigmented macules and seizures. The treatment for the macules is surgical resection. The Phenytoin, in opposition to the literature, succeeded in control of seizures. Genetic counseling is suggested due to the autosomal dominant expression and to the fact of 85% of the cases resulting in abortion.