Clival Chordoma Presenting as Airway Obstruction in a Neonate With Tuberous Sclerosis and Good Response to sirolimus

We report the case of a 50-day-old infant with a nasopharyngeal mass causing respiratory distress at birth. Imaging revealed a mass from the clivus and features indicative of tuberous sclerosis complex (TSC), including cortical tubers and subependymal nodules. The mass was surgically excised, with histopathology confirming chordoma. Genetic analysis identified pathogenic mutation in TSC2 gene. Postsurgery, he had residual disease and was treated with mammalian target of rapamycin (mTOR) inhibitor sirolimus, leading to complete resolution. This case is notable as it represents the first instance of mTOR inhibitor use resulting in complete resolution of TSC-associated chordoma, suggesting potential for further research into mTOR therapy for chordomas.