Skip to main content
Top
Published in: Indian Journal of Pediatrics 9/2018

01-09-2018 | Original Article

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

Authors: Ying Zhou, Su-Zhen Dong, Yu-Min Zhong, Ai-Min Sun

Published in: Indian Journal of Pediatrics | Issue 9/2018

Login to get access

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.
Literature
2.
go back to reference Jahagirdar PB, Eeraveni R, Ponnuraj S, Kamarthi N. Tuberous sclerosis: a novel approach todiagnosis. J Indian Soc Pedod Prev Dent. 2011;29:S52–5.CrossRefPubMed Jahagirdar PB, Eeraveni R, Ponnuraj S, Kamarthi N. Tuberous sclerosis: a novel approach todiagnosis. J Indian Soc Pedod Prev Dent. 2011;29:S52–5.CrossRefPubMed
3.
go back to reference 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.PubMedPubMedCentral 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.PubMedPubMedCentral
4.
go back to reference 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.CrossRefPubMed 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.CrossRefPubMed
5.
6.
go back to reference 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.CrossRefPubMed 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.CrossRefPubMed
7.
go back to reference Gedikbasi A, Oztarhan K, Ulker V, et al. Prenatal sonographic diagnosis of tuberous sclerosis complex. J Clin Ultrasound. 2011;39:427–30.CrossRefPubMed Gedikbasi A, Oztarhan K, Ulker V, et al. Prenatal sonographic diagnosis of tuberous sclerosis complex. J Clin Ultrasound. 2011;39:427–30.CrossRefPubMed
8.
go back to reference 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.CrossRef 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.CrossRef
9.
go back to reference 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.CrossRefPubMed 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.CrossRefPubMed
10.
go back to reference 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. 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.
go back to reference Muhler MR, Rake A, Schwabe M, et al. Value of fetal cerebral MRI in sonographically proven cardiac rhabdomyoma. Pediatric Radiol. 2007;37:467.CrossRef Muhler MR, Rake A, Schwabe M, et al. Value of fetal cerebral MRI in sonographically proven cardiac rhabdomyoma. Pediatric Radiol. 2007;37:467.CrossRef
12.
go back to reference 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. 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.
go back to reference 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.CrossRefPubMed 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.CrossRefPubMed
14.
go back to reference Penha JG, Zorzanelli L, Barbosa-Lopes AA, et al. Heart neoplasms in children: retrospective analysis. Arq Bras Cardiol. 2013;100:120–6.CrossRefPubMed Penha JG, Zorzanelli L, Barbosa-Lopes AA, et al. Heart neoplasms in children: retrospective analysis. Arq Bras Cardiol. 2013;100:120–6.CrossRefPubMed
15.
go back to reference 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.PubMedPubMedCentral 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.PubMedPubMedCentral
16.
go back to reference 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. 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.
go back to reference 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.CrossRefPubMed 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.CrossRefPubMed
18.
go back to reference Hoshal SG, Samuel BP, Schneider JR, Mammen L, Vettukattil JJ. Regression of massive cardiac rhabdomyoma on everolimus therapy. Pediatr Int. 2016;58:397–9.CrossRefPubMed Hoshal SG, Samuel BP, Schneider JR, Mammen L, Vettukattil JJ. Regression of massive cardiac rhabdomyoma on everolimus therapy. Pediatr Int. 2016;58:397–9.CrossRefPubMed
19.
go back to reference 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.CrossRefPubMed 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.CrossRefPubMed
20.
go back to reference Kivelitz DE, Muhler M, Rake A, et al. MRI of cardiac rhabdomyoma in the fetus. Eur Radiol. 2004;14:1513–6.CrossRefPubMed Kivelitz DE, Muhler M, Rake A, et al. MRI of cardiac rhabdomyoma in the fetus. Eur Radiol. 2004;14:1513–6.CrossRefPubMed
21.
go back to reference 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 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
22.
go back to reference Baron Y, Barkovich A. MR imaging of tuberous sclerosis in neonates and young infants. AJNR. 1999;20:907–16.PubMed Baron Y, Barkovich A. MR imaging of tuberous sclerosis in neonates and young infants. AJNR. 1999;20:907–16.PubMed
23.
go back to reference 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.CrossRefPubMed 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.CrossRefPubMed
Metadata
Title
Prenatal and Postnatal Diagnosis of Rhabdomyomas and Tuberous Sclerosis Complex by Ultrafast and Standard MRI
Authors
Ying Zhou
Su-Zhen Dong
Yu-Min Zhong
Ai-Min Sun
Publication date
01-09-2018
Publisher
Springer India
Published in
Indian Journal of Pediatrics / Issue 9/2018
Print ISSN: 0019-5456
Electronic ISSN: 0973-7693
DOI
https://doi.org/10.1007/s12098-017-2592-x

Other articles of this Issue 9/2018

Indian Journal of Pediatrics 9/2018 Go to the issue