Tuberous Sclerosis (Ts)

Tuberous sclerosis is a dominantly inherited genetic disease in which tumors (z. B. hamartomas) develop in several organs. Diagnosis requires mapping of the affected organ. Treatment is symptomatic or if CNS tumors grow, everolimus. Patients must be monitored regularly to look for complications. Tuberous sclerosis (TS) is a neurocutaneous syndrome that occurs in 1 in 6,000 children; 85% of cases involve mutations in TSC1 gene (9q34), which controls the production…

September 3, 2018