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Prenatal and Postnatal Diagnosis of Rhabdomyomas and Tuberous Sclerosis Complex by Ultrafast and Standard MRI

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Abstract

Objective

To examine the features of cardiac rhabdomyomas and tuberous sclerosis in fetuses and infants using magnetic resonance imaging (MRI) and to determine whether MRI is an effective tool to facilitate early detection of tuberous sclerosis complex (TSC).

Methods

Fifteen patients with TSC were evaluated by ultrafast or standard MRI between June 2005 and September 2016. Fifteen patients were divided into two groups. Group A included five cases in utero and followed in infancy with gestational ages from 26 + 1 to 38 + 2 wk. Group B included ten cases aged from 36 d to 18-mo-old.

Results

There were 11 and 10 cardiac lesions of prenatal and postnatal period respectively in five subjects of Group A and 27 cardiac lesions in ten subjects of Group B. There were more than 31 prenatal brain lesions and 30 postnatal brain lesions in Group A and 169 lesions in Group B. Standard postnatal brain MRI confirmed the prenatal study of Group A. At 1 y follow up of Group A, there was partial regression of 2 cardiac lesions, complete regression of 1 cardiac lesion, no obvious regression of 8 cardiac lesions.

Conclusions

When one or multiple cardiac tumors are detected by ultrasound in fetal period or some specific clinical manifestations are presented in infancy, fetal ultrafast MRI or standard MRI is suggested to make early diagnosis of TSC.

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References

  1. Ajay V, Singhal V, Venkateshwarlu V, Rajesh SM. Tuberous sclerosis with rhabdomyoma. Indian J Hum Genet. 2013;19:93–5.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  2. Jahagirdar PB, Eeraveni R, Ponnuraj S, Kamarthi N. Tuberous sclerosis: a novel approach todiagnosis. J Indian Soc Pedod Prev Dent. 2011;29:S52–5.

    Article  PubMed  CAS  Google Scholar 

  3. Colosi E, Russo C, Macaluso G, et al. Sonographic diagnosis of fetal cardiac rhabdomyomas and cerebral tubers: a case report of prenatal tuberous sclerosis. J Prenat Med. 2013;7:51–5.

    PubMed  PubMed Central  Google Scholar 

  4. Ozeren S, Cakiroglu Y, Doger E, Caliskan E. Sonographic diagnosis of fetal cardiac rhabdomyomas in two successive pregnancies in a woman with tuberous sclerosis. J Clin Ultrasound. 2012;40:179–82.

    Article  PubMed  Google Scholar 

  5. Sciacca P, Giacchi V, Mattia C, et al. Rhabdomyomas and tuberous sclerosis complex: our experience in 33 cases. BMC Cardiovasc Disord. 2014;14:66.

    Article  PubMed  PubMed Central  Google Scholar 

  6. Chen CP, Chang TY, Guo WY, et al. Detection of maternal transmission of a splicing mutation in the TSC2 gene following prenatal diagnosis of fetal cardiac rhabdomyomas mimicking congenital cystic adenomatoid malformation of lung and cerebral tubers and awareness of a family history of maternal epilepsy. Taiwan J Obstet Gynecol. 2013;52:415–9.

    Article  PubMed  Google Scholar 

  7. Gedikbasi A, Oztarhan K, Ulker V, et al. Prenatal sonographic diagnosis of tuberous sclerosis complex. J Clin Ultrasound. 2011;39:427–30.

    Article  PubMed  Google Scholar 

  8. Charif DOuazzane M, Gueroui I, Betaich K, et al. A cardiac rhabdomyome evoking the antenatal diagnosis of a Bourneville's tuberous sclerosis. Ann Cardiol Angeiol. 2015;64:51–3.

    Article  CAS  Google Scholar 

  9. Falip C, Hornoy P, Millischer Bellaïche AE, et al. Fetal cerebral magnetic resonance imaging (MRI). Indications, normal and pathological patterns. Rev Neurol. 2009;165:875–88.

    Article  PubMed  CAS  Google Scholar 

  10. Northrup H, Krueger DA; International tuberous sclerosis complex consensus group. Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 international tuberous sclerosis complex consensus conference. Pediatr Neurol. 2013;49:243–54.

  11. Muhler MR, Rake A, Schwabe M, et al. Value of fetal cerebral MRI in sonographically proven cardiac rhabdomyoma. Pediatric Radiol. 2007;37:467.

    Article  Google Scholar 

  12. Islam MP, Roach ES. Neurocutaneous syndromes. In: Daroff RB, Fenichel GM, Jankovic J, Mazziotta J, editors. Bradley’s Neurology in Clinical Practice, vol. II. 6th ed. Saunders: Elsevier; 2012. p. 1508–33.

  13. Haines JL, Amos J, Attwood J, et al. Genetic heterogeneity in tuberous sclerosis. Study of a large collaborative dataset. Ann N Y Acad Sci. 1991;615:256–64.

    Article  PubMed  CAS  Google Scholar 

  14. Penha JG, Zorzanelli L, Barbosa-Lopes AA, et al. Heart neoplasms in children: retrospective analysis. Arq Bras Cardiol. 2013;100:120–6.

    Article  PubMed  Google Scholar 

  15. Gusman M, Servaes S, Feygin T, Degenhardt K, Epelman M. Multimodal imaging in the prenatal diagnosis of tuberous sclerosis complex. Case Rep Pediatr. 2012;2012:925646.

    PubMed  PubMed Central  Google Scholar 

  16. Kocabas A, Ekici F, Cetin Iİ, et al. Cardiac rhabdomyomas associated with tuberous sclerosis complex in 11 children: presentation to outcome. Pediatr Hematol Oncol. 2013;30:71–9.

  17. Pruksanusak N, Suntharasaj T, Suwanrath C, et al. Fetal cardiac rhabdomyoma with hydrops fetalis: report of 2 cases and literature review. J Ultrasound Med. 2012;31:1821–4.

    Article  PubMed  Google Scholar 

  18. Hoshal SG, Samuel BP, Schneider JR, Mammen L, Vettukattil JJ. Regression of massive cardiac rhabdomyoma on everolimus therapy. Pediatr Int. 2016;58:397–9.

    Article  PubMed  Google Scholar 

  19. Gamzu R, Achiron R, Hegesh J, et al. Evaluating the risk of tuberous sclerosis in cases with prenatal diagnosis of cardiac rhabdomyoma. Prenat Diagn. 2002;22:1044–7.

    Article  PubMed  Google Scholar 

  20. Kivelitz DE, Muhler M, Rake A, et al. MRI of cardiac rhabdomyoma in the fetus. Eur Radiol. 2004;14:1513–6.

    Article  PubMed  Google Scholar 

  21. de Laveaucoupet J, Bekiesińska-Figatowska M, Rutkowska M. What is the impact of fetal magnetic resonance imaging (MRI) on prenatal diagnosis of cerebral anomalies. Med Wieku Rozwoj. 2011;15:376–84.

    PubMed  Google Scholar 

  22. Baron Y, Barkovich A. MR imaging of tuberous sclerosis in neonates and young infants. AJNR. 1999;20:907–16.

    PubMed  CAS  Google Scholar 

  23. Levine D, Barnes P, Korf B, et al. Tuberous sclerosis in the fetus: second trimester diagnosis of subependymal with ultrafast MR imaging. AJR Am J Roentgenol. 2000;175:1067–9.

    Article  PubMed  CAS  Google Scholar 

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Acknowledgements

The authors are grateful to their adviser Dr. Steven Saris for reading the manuscript and making many valuable suggestions and revision for improvement.

Contributions

All of the MR images were reviewed cooperatively by three radiologists (YZ, SZD and YMZ). The specialties of these three evaluating radiologists are all fetal and pediatric imaging diagnosis, they have dedicated to this field for more than 10 to 20 y. The clinical manifestations and US results were reviewed and discussed at the time of acquisition and when the MR images were interpreted. AMS helped to identify the cardiac lesions of each case. Professor Ming Zhu, a Chinese famous pediatric radiologist, he has studied fetal MRI for more than 10 y; he can take a responsibility that the facts and figures given in the manuscript are true and the article is not under consideration by any other Journal / is not duplicate publication.

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Correspondence to Su-Zhen Dong.

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Source of Funding

National Natural Science Foundation of China (81101032): Fetal MRI combined with 1H MRS quantitative assessment of fetal lung development and oligohydramnios complicated with pulmonary dysplasia National Natural Science Foundation of China (81571628): The diagnosis of fetal congenital heart disease based on the precise qualitative and quantitative MRI scanning technology.

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Zhou, Y., Dong, SZ., Zhong, YM. et al. Prenatal and Postnatal Diagnosis of Rhabdomyomas and Tuberous Sclerosis Complex by Ultrafast and Standard MRI. Indian J Pediatr 85, 729–737 (2018). https://doi.org/10.1007/s12098-017-2592-x

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  • DOI: https://doi.org/10.1007/s12098-017-2592-x

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