RADIOLOGICAL MANIFESTATIONS IN TUBEROUS SCLEROSIS: A LITERATURE REVIEW

Abstract

Tuberous sclerosis is a rare, multisystem, autosomal dominant genetic disease, with an incidence of 1 in 6,000-10,000 live births annually. In tuberous sclerosis, the most affected organs are: the brain, heart, skin, eyes, kidneys and lungs. Due to the scope of the pathology, its clinical manifestations are varied in terms of severity and diversity of affected organs and tissues. Thus, there is no single and specific symptom for TSC. In the diagnostic process, it is pointed out that computed tomography and magnetic resonance imaging are established as first-line investigation techniques, with the presence of rhabdomyomas being the most common reason for suspecting the disease. The anticipation of the diagnosis is paramount, as it becomes a differential for better screening, monitoring and sequencing of the patient. Clinical management is mainly carried out symptomatically, with alternatives ranging from pharmacological, surgical or behavioral interventions. In this context, the aim of this study was to describe the main radiological findings of tuberous sclerosis described in the literature. It is concluded that the evolution of tuberous sclerosis is associated with the period in which it is diagnosed, with early diagnosis being crucial for better screening, monitoring and sequencing of the patient.