New Aspects of Treatment and Organ Involvement in Pediatric Tuberous Sclerosis

Tuberous sclerosis complex (TSC) is a rare genetic disorder marked by benign tumor formation in multiple organs, frequently involving the heart and central nervous system (CNS). We present a case study of a premature infant with genetically confirmed TSC and coexisting cardiac rhabdomyomas (CRs) and subependymal giant-cell astrocytomas (SEGAs). The patient was treated with oral sirolimus starting at 3 months of age. Cardiac lesions exhibited complete resolution within 6 months of therapy, as evidenced by echocardiography and normal myocardial strain. CNS imaging at 12 months showed partial SEGA regression and no seizure activity. Treatment was well tolerated, with no adverse events reported. This case illustrates the potential of early sirolimus therapy to accelerate tumor regression in both cardiac and CNS lesions, highlighting its value in the conservative management of TSC in infancy. However, key questions remain regarding therapy duration, long-term outcomes, and prognostic use of myocardial deformation indices. Further clinical trials are warranted to refine treatment strategies in this age group. Informed consent was obtained from all subjects involved in the study.