Tuberous sclerosis
Abstract
Esclerosis Tuberosa, also known as the Tuberculosis Syndrome (CET), is a rare genetic disease with a global incidence of 6.4 to 12.4 cases per 100,000 inhabitants. The prognosis of individuals with CET is determined by the severity of their symptoms. Less severe symptoms lead to a longer and productive life, while more severe symptoms can cause severe disabilities. There is currently no cure for CET. This text presents a clinical case study on CET, detailing its definition, treatment, risk factors, and findings. A 17-year-old patient was diagnosed from the age of three with various symptoms, including Koenen fibromas, gingivales fibromas, hepatocellular quistes, renal angiomimpomas, cerebral gliosis, and magna megacisterna. Despite meeting diagnostic criteria, no genetic studies have been conducted due to financial limitations. Experts in the field must have extensive knowledge of the wide range of symptoms in CET patients. Vigilance and rapid intervention play a crucial role in promoting a more favorable prognosis and preventing complications. Permanent vigilance of healthcare professionals is essential for accurate diagnosis and timely
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