Tuberous sclerosis of infancy: case report

Abstract

Introduction: tuberous sclerosis complex (TSC) is a multisystem autosomal produced by mutatitos in the tumor suppressor genes TSC1 or TSC2. Objective: To analyze the clinical case of a pediatric patient with tuberous sclerosis, to present new or instructive aspects of the disease. Methodology: Analysis of a retrospective descriptive clinical case, for the collection of information a review of clinical history was performed; for the description of the disease a complication of information in recognized databases such as: Scopus, Pubmed, web of Science, Lilacs was performed. Results. The clinical case presented is a 5-year-old pediatric patient with a diagnosis of tuberous sclerosis due to the presence of subependymal hamartomas and lateral cortical tubers. With decreased psychomotor activity, skin with presence of abnormal changes all over the body, right lower limb with deformity. Vigilant, oriented in time, space and person, language with speech delay, slightly decreased muscle strength, dysmetric patient, dyschronometric. Conclusion: Tuberous sclerosis is a neurocutaneous disease, characterized by the appearance of a clinical triad (Vogt's triad): mental retardation, seizures and skin lesions (sebaceous adenoma). It presents typical intracranial findings that allow to guide its diagnosis.