pediatrics
Tuberous Sclerosis Complex (TSC)
Introduction
Tuberous sclerosis complex is a dominantly inherited genetic disorder in which tumors (usually hamartomas) develop in multiple organs. Diagnosis requires specific clinical criteria and imaging of the affected organ. Treatment is symptomatic or, if central nervous system tumors are growing, therapy withsirolimusoreverolimus. Patients must be monitored regularly to check for complications. Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome that occurs in 1 of 6000 children ( Reference ); 85% of cases involve mutations in the Patients with TSC have tumors or abnormalities that manifest at different ages and in multiple organs, including the Brain Heart Eyes Kidneys Lungs Skin interrupt neural circuits, causing developmental delay and cognitive impairment and may cause seizures, including Infantile Spasms . Sometimes the tubers grow and obstruct flow of cerebrospinal fluid from the lateral ventricles, causing unilateral Cardiac rhabdomyomasmay develop prenatally, sometimes causing heart failure in neonates. These rhabdomyomas tend to disappear over time and usually do not cause symptoms later in childhood or in adulthood. (angiolipomas) may develop in adults, and Autosomal Dominant Polycystic Kidney Disease (ADPKD) may develop at any age. Kidney disease may cause hypertension. such as Lymphangioleiomyomatosis , may develop, particularly in adolescent girls. 