Open Access

Rapamycin therapy for neonatal tuberous sclerosis complex with cardiac rhabdomyomas: A case report and review

  • Authors:
    • Shanshan Mao
    • Qi Long
    • Huijia Lin
    • Jinling Liu
  • View Affiliations

  • Published online on: October 18, 2017     https://doi.org/10.3892/etm.2017.5335
  • Pages:6159-6163
  • Copyright: © Mao et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

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.

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December 2017
Volume 14 Issue 6

Print ISSN: 1792-0981
Online ISSN:1792-1015

2016 Impact Factor: 1.261
Ranked #50/128 Medicine Research and Experimental
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APA
Mao, S., Long, Q., Lin, H., & Liu, J. (2017). Rapamycin therapy for neonatal tuberous sclerosis complex with cardiac rhabdomyomas: A case report and review. Experimental and Therapeutic Medicine, 14, 6159-6163. https://doi.org/10.3892/etm.2017.5335
MLA
Mao, S., Long, Q., Lin, H., Liu, J."Rapamycin therapy for neonatal tuberous sclerosis complex with cardiac rhabdomyomas: A case report and review". Experimental and Therapeutic Medicine 14.6 (2017): 6159-6163.
Chicago
Mao, S., Long, Q., Lin, H., Liu, J."Rapamycin therapy for neonatal tuberous sclerosis complex with cardiac rhabdomyomas: A case report and review". Experimental and Therapeutic Medicine 14, no. 6 (2017): 6159-6163. https://doi.org/10.3892/etm.2017.5335