Article

New Aspects of Treatment and Organ Involvement in Pediatric Tuberous Sclerosis

2025-08-07

Abstract excerpt

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 ag...

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Literature Corpus work: 2ea2425a-6dfe-5fc6-9d1d-9803f0edc76f
DOI: 10.20944/preprints202508.0520.v1

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