Neonatal diagnosis of tuberous sclerosis complex: a case report

Abstract

Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder, multisystemic in nature, and characterized by wide phenotypic variability. Its diagnosis can be established even in the neonatal period based on well-defined clinical criteria, which enables early and multidisciplinary management. We present the case of a term male newborn delivered by cesarean section due to non-reassuring fetal status, with a maternal history of childhood epilepsy and limited prenatal care. After an initially adequate adaptation, the neonate developed persistent bradycardia, irregular respiratory dynamics, and hypopigmented skin lesions suggestive of TSC. Supplementary tests revealed intracardiac masses consistent with rhabdomyomas and characteristic structural neurological alterations, including cortical tubers, subependymal nodules, and a lesion suggestive of subependymal giant cell astrocytoma (SEGA). Dermatological assessment and the identification of clinical manifestations in the mother further supported the diagnosis. Based on these findings, the patient met major criteria according to current international consensus, allowing a definitive diagnosis of TSC even in the absence of genetic confirmation. No pharmacological treatment was indicated in the neonatal stage; however, neurological and cardiological follow-up was planned, with consideration of targeted therapies in the future. This case highlights the importance of early diagnosis, family evaluation, and a comprehensive approach in neonates with suspected TSC, as well as the emerging role of mTOR inhibitors as a therapeutic alternative in selected cases, with a favorable impact on long-term prognosis and quality of life.