Tuberous Sclerosis Complex in Pediatrics: Case Report

Abstract

Introduction: Tuberous Sclerosis Complex (TSC) is a multisystem disorder characterized by the formation of benign tumors in organs such as the skin, brain, heart, kidneys, and lungs, with an estimated prevalence of 1 in 6,000 live births. Mutations in the TSC1 and TSC2 genes, which encode the proteins hamartin and tuberin, disrupt the TSC1/TSC2 complex, leading to mTOR activation and the development of the characteristic TSC lesions. Clinically, patients may present with neurological, dermatological and cardiac manifestations, including refractory epilepsy, neurocognitive disabilities, and rhabdomyomas, which can be detected prenatally. The introduction of mTOR inhibitors, such as sirolimus and everolimus, along with early anticonvulsant therapy, has significantly improved disease management.

Case Report: A male newborn was prenatally diagnosed with cardiac rhabdomyoma and multiple cerebral tubers detected by fetal echocardiography and MRI. Prenatal treatment with sirolimus was initiated. He was born at term with appropriate anthropometry and Apgar scores of 9-10. Postnatal imaging confirmed the cardiac and cerebral lesions. Treatment continued with sirolimus and was later replaced with everolimus and vigabatrin due to upper gastrointestinal bleeding. To date, the patient has not experienced seizures or neurodevelopmental abnormalities, and ophthalmologic evaluation was normal.

Conclusion: This case highlights the importance of early identification and management of TSC through a multidisciplinary approach involving geneticists, neonatologists, pediatric neurologists, and molecular therapy specialists. Early intervention with mTOR inhibitors and anticonvulsants may reduce neurological morbidity and optimize quality of life. Further studies are needed to evaluate the efficacy of prenatal and neonatal treatment in larger cohorts and to standardize personalized therapeutic strategies for patients with TSC.