TY - JOUR AB - Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease that varies greatly in its expression. The current study reports a novel case of TSC caused by a TSC2 mutation (TSC2c.1642_1643insA or TSC2p.K549fsX589), in which multiple cardiac rhabdomyomas were detected by fetal echocardiography in week 31 of pregnancy. The infant was delivered successfully; however, seizures began 16 days following birth. Subsequent genetic tests confirmed a diagnosis of TSC. Rapamycin treatment resulted in regression of cardiac rhabdomyomas and controlled seizures. The current study demonstrates the value of fetal echocardiography in the diagnosis of TSC and suggests that inhibition of the mammalian target of the rapamycin (mTOR) signaling pathway may be considered as a potential antiepileptogenic therapy for neonatal TSC. In addition, it was demonstrated that rapamycin treatment was therapeutically beneficial for preventing disorders caused by abnormal mTOR signaling, such as cancer. According to the literature, cardiac rhabdomyomas, seizures and skin lesions are well established markers for TSC in neonates. MRI scans of the brain and genetic screening of TSC1 and TSC2 genes may facilitate an early diagnosis of TSC. AD - Department of Neurology, The Children's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310052, P.R. China Department of Clinical Nutrition, The Children's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310052, P.R. China Department of Neonatology, The Children's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310052, P.R. China Department of Pulmonology, The Children's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310052, P.R. China AU - Mao,Shanshan AU - Long,Qi AU - Lin,Huijia AU - Liu,Jinling DA - 2017/12/01 DO - 10.3892/etm.2017.5335 EP - 6163 IS - 6 JO - Exp Ther Med KW - cardiac rhabdomyomas mutation neonatal tuberous sclerosis seizures PY - 2017 SN - 1792-0981 1792-1015 SP - 6159 ST - Rapamycin therapy for neonatal tuberous sclerosis complex with cardiac rhabdomyomas: A case report and review T2 - Experimental and Therapeutic Medicine TI - Rapamycin therapy for neonatal tuberous sclerosis complex with cardiac rhabdomyomas: A case report and review UR - https://doi.org/10.3892/etm.2017.5335 VL - 14 ER -