Akademik Veri Yönetim Sistemi
Yüksek İhtisas Üniversitesi Sağlık Bilimleri Dergisi, cilt.6, sa.Ek sayı 2, ss.34-36, 2026 (Hakemli Dergi)
Introduction: We aimed to present a case of tuberous sclerosis complex (TSC) in which the patient’s refractory seizures were controlled with everolimus, and their cardiac rhabdomyomas regressed, but their intermittent Wolff–Parkinson–White (WPW) pattern persisted on electrocardiographic monitoring. Case Presentation: A six-year-old boy was first admitted to our clinic at the age of three months, presenting with generalized clonic seizures lasting one to two minutes and occurring six to seven times a day. His medical history included surgical repair of an omphalocele at two months of age, as well as the detection of multiple cardiac rhabdomyomas and a WPW pattern during cardiac investigations performed to assess other potential systemic involvement associated with omphalocele. His examination revealed no abnormalities except for hypomelanotic macules. Brain magnetic resonance imaging revealed multiple cortical tubers and subependymal nodules. His clinical and neuroradiological findings were consistent with TSC, and a heterozygous likely pathogenic variant of the c.3626T>C p.(Leu1209Pro) was detected in the TSC2 gene. He was started on antiseizure treatment; however, despite trying various combinations of multiple antiseizure medications at the appropriate doses, as well as ketogenic diet therapy, no significant improvement in his seizure frequency or severity was observed. Therefore, everolimus was initiated. Four months after commencing treatment with everolimus, a significant reduction in seizure frequency and severity was noted. During follow-up, his rhabdomyomas completely regressed; however, the intermittent WPW pattern persisted. He is still undergoing follow-up treatment with everolimus and multiple antiseizure medications. Conclusion: Everolimus, an mTOR pathway inhibitor, is an effective treatment for controlling seizures in patients with drug-resistant TSC. Furthermore, TSC is a rare cause of WPW, and patients should be monitored cardiologically for both rhabdomyomas and rhythm problems.