Tuberous sclerosis

case report

Abstract

Tuberous sclerosis is a rare, genetically based disease in which one third of cases transmitted are hereditarily in the autosomal dominant form, and the others are caused by sporadic chromosomal mutations. In the population affected by the pathology, mutations of the tumor suppression genes occur in chromosomes 9q34 (TCS1), which encodes the hamartin protein and the chromosome 16p13 (TCS2), which encodes the tuberin protein, and the TCS2 mutations represent the largest part of the cases and have a greater link between mental retardation and the development of polycystic kidney disease. The development of hamartomas (tumors formed by cells equal to those of the tissue of origin) determines the symptomatology of the disease, according to the location of the same. The most common clinical manifestations of the disease are the presence of cutaneous lesions (hypopigmented spots), mental retardation and convulsive crises of difficult control, which are a consequence of the presence of hamartomas in the central nervous system. It is worth mentioning that hamartomas occur in almost all organs and tissues, thus determining the symptomatology and severity of the disease. Renal involvement is seen in the form of cysts and angiomyolipomas, and in cases where there is renal involvement in the polycystic form, with minimal extra-renal manifestations, there is a tendency to confuse the diagnoses. This article aimed to present the case report of tuberous sclerosis, demonstrating the importance of ultrasonography as a valuable tool in the early detection of the disease and that makes possible the adequate management of patients affected.