Skip to main content
Advertisement

Main menu

  • Home
  • Content
    • Current Issue
    • Accepted Manuscripts
    • Article Preview
    • Past Issue Archive
    • Video Articles
    • AJNR Case Collection
    • Case of the Week Archive
    • Case of the Month Archive
    • Classic Case Archive
  • Special Collections
    • AJNR Awards
    • Low-Field MRI
    • Alzheimer Disease
    • ASNR Foundation Special Collection
    • Photon-Counting CT
    • View All
  • Multimedia
    • AJNR Podcasts
    • AJNR SCANtastic
    • Trainee Corner
    • MRI Safety Corner
    • Imaging Protocols
  • For Authors
    • Submit a Manuscript
    • Submit a Video Article
    • Submit an eLetter to the Editor/Response
    • Manuscript Submission Guidelines
    • Statistical Tips
    • Fast Publishing of Accepted Manuscripts
    • Graphical Abstract Preparation
    • Imaging Protocol Submission
    • Author Policies
  • About Us
    • About AJNR
    • Editorial Board
    • Editorial Board Alumni
  • More
    • Become a Reviewer/Academy of Reviewers
    • Subscribers
    • Permissions
    • Alerts
    • Feedback
    • Advertisers
    • ASNR Home

User menu

  • Alerts
  • Log in

Search

  • Advanced search
American Journal of Neuroradiology
American Journal of Neuroradiology

American Journal of Neuroradiology

ASHNR American Society of Functional Neuroradiology ASHNR American Society of Pediatric Neuroradiology ASSR
  • Alerts
  • Log in

Advanced Search

  • Home
  • Content
    • Current Issue
    • Accepted Manuscripts
    • Article Preview
    • Past Issue Archive
    • Video Articles
    • AJNR Case Collection
    • Case of the Week Archive
    • Case of the Month Archive
    • Classic Case Archive
  • Special Collections
    • AJNR Awards
    • Low-Field MRI
    • Alzheimer Disease
    • ASNR Foundation Special Collection
    • Photon-Counting CT
    • View All
  • Multimedia
    • AJNR Podcasts
    • AJNR SCANtastic
    • Trainee Corner
    • MRI Safety Corner
    • Imaging Protocols
  • For Authors
    • Submit a Manuscript
    • Submit a Video Article
    • Submit an eLetter to the Editor/Response
    • Manuscript Submission Guidelines
    • Statistical Tips
    • Fast Publishing of Accepted Manuscripts
    • Graphical Abstract Preparation
    • Imaging Protocol Submission
    • Author Policies
  • About Us
    • About AJNR
    • Editorial Board
    • Editorial Board Alumni
  • More
    • Become a Reviewer/Academy of Reviewers
    • Subscribers
    • Permissions
    • Alerts
    • Feedback
    • Advertisers
    • ASNR Home
  • Follow AJNR on Twitter
  • Visit AJNR on Facebook
  • Follow AJNR on Instagram
  • Join AJNR on LinkedIn
  • RSS Feeds

AJNR Awards, New Junior Editors, and more. Read the latest AJNR updates

Research ArticlePediatric Neuroimaging

Prenatal MR Imaging Phenotype of Fetuses with Tuberous Sclerosis: An Institutional Case Series and Literature Review

S.K. Goergen and M.C. Fahey
American Journal of Neuroradiology April 2022, 43 (4) 633-638; DOI: https://doi.org/10.3174/ajnr.A7455
S.K. Goergen
aMonash Health Imaging and Department of Imaging (S.K.G.)
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for S.K. Goergen
M.C. Fahey
bMonash Health Paediatric Neurology Unit and Department of Paediatrics (M.C.F.), Monash University, School of Clinical Sciences, Clayton, Victoria, Australia
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for M.C. Fahey
  • Article
  • Figures & Data
  • Supplemental
  • Info & Metrics
  • Responses
  • References
  • PDF
Loading

References

  1. 1.↵
    1. Curatolo P,
    2. Maria BL
    . Tuberous sclerosis. Handb Clin Neurol 2013;111:323–31 doi:10.1016/B978-0-444-52891-9.00038-5 pmid:23622183
    CrossRefPubMed
  2. 2.↵
    1. Crino PB,
    2. Nathanson KL,
    3. Henske EP
    . The tuberous sclerosis complex. N Engl J Med 2006;355:1345–56 doi:10.1056/NEJMra055323 pmid:17005952
    CrossRefPubMedWeb of Science
  3. 3.↵
    1. Chen L,
    2. Jiang Y,
    3. Wang J
    . Fetal cardiac rhabdomyoma due to paternal mosaicism of TSC2: a case report. Medicine (Baltimore) 2020;99:e21949 doi:10.1097/MD.0000000000021949 pmid:32871942
    CrossRefPubMed
  4. 4.↵
    1. Ehninger D
    . From genes to cognition in tuberous sclerosis: implications for mTOR inhibitor-based treatment approaches. Neuropharmacology 2013;68:97–105 doi:10.1016/j.neuropharm.2012.05.015 pmid:22626986
    CrossRefPubMedWeb of Science
  5. 5.↵
    1. Northrup H,
    2. 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 doi:10.1016/j.pediatrneurol.2013.08.001 pmid:24053982
    CrossRefPubMed
  6. 6.↵
    1. Cavalheiro S,
    2. da Costa MD,
    3. Richtmann R
    . Everolimus as a possible prenatal treatment of in utero diagnosed subependymal lesions in tuberous sclerosis complex: a case report. Childs Nerv Syst 2021;37:3897–99 doi:10.1007/s00381-021-05218-4 pmid:3400805
    CrossRefPubMed
  7. 7.↵
    1. Tworetzky W,
    2. McElhinney DB,
    3. Margossian R, et al
    . Association between cardiac tumors and tuberous sclerosis in the fetus and neonate. Am J Cardiol 2003;92:487–89 doi:10.1016/S0002-9149(03)00677-5 pmid:12914889
    CrossRefPubMedWeb of Science
  8. 8.↵
    1. Goergen SK,
    2. Alibrahim E,
    3. Christie J, et al
    . The fetus with ganglionic eminence abnormality: head size and extracranial sonographic findings predict genetic diagnoses and postnatal outcomes. AJNR Am J Neuroradiol 2021;42:1528–34 doi:10.3174/ajnr.A7131 pmid:33958329
    Abstract/FREE Full Text
  9. 9.↵
    1. Wortmann SB,
    2. Reimer A,
    3. Creemers JW, et al
    . Prenatal diagnosis of cerebral lesions in tuberous sclerosis complex (TSC): case report and review of the literature. Eur J Paediatr Neurol 2008;12:123–26 doi:10.1016/j.ejpn.2007.06.006 pmid:17681840
    CrossRefPubMed
  10. 10.↵
    1. Bruet S,
    2. Francannet C,
    3. Marguet F, et al
    . Prenatal diagnosis of hemimegalencephaly revealing tuberous sclerosis complex. Ultrasound Obstet Gynecol 2020;55:688–89 doi:10.1002/uog.21874 pmid:31568608
    CrossRefPubMed
  11. 11.↵
    1. Ulm B,
    2. Muin D,
    3. Scharrer A, et al
    . Prenatal ultrasound and magnetic resonance evaluation and fetal outcome in high‐risk fetal tumors: a retrospective single‐center cohort study over 20 years. Acta Obstet Gynecol Scand 2020;99:1534–45 doi:10.1111/aogs.13933 pmid:32525215
    CrossRefPubMed
  12. 12.↵
    1. Zhou Y,
    2. Dong SZ,
    3. Zhong YM, et al
    . Prenatal and postnatal diagnosis of rhabdomyomas and tuberous sclerosis complex by ultrafast and standard MRI. Indian J Pediatr 2018;85:729–37 doi:10.1007/s12098-017-2592-x pmid:29313307
    CrossRefPubMed
  13. 13.↵
    1. Mühler MR,
    2. Rake A,
    3. Schwabe M, et al
    . Value of fetal cerebral MRI in sonographically proven cardiac rhabdomyoma. Pediatr Radiol 2007;37:467–74 doi:10.1007/s00247-007-0436-y pmid:17357805
    CrossRefPubMed
  14. 14.↵
    1. Jurkiewicz E,
    2. Bekiesińska-Figatowska M,
    3. Romaniuk-Doroszewska A, et al
    . Brain MRI in fetuses with cardiac tumours. Neuroradiol J 2007;20:494–99 doi:10.1177/197140090702000503 pmid:24299935
    CrossRefPubMed
  15. 15.↵
    1. Levine D,
    2. Barnes P,
    3. Korf B, et al
    . Tuberous sclerosis in the fetus: second-trimester diagnosis of subependymal tubers with ultrafast MR imaging. AJR Am J Roentgenol 2000;175:1067–69 doi:10.2214/ajr.175.4.1751067 pmid:11000167
    CrossRefPubMedWeb of Science
  16. 16.↵
    1. Prabowo AS,
    2. Anink JJ,
    3. Lammens M, et al
    . Fetal brain lesions in tuberous sclerosis complex: TORC1 activation and inflammation. Brain Pathol 2013;23:45–59 doi:10.1111/j.1750-3639.2012.00616.x pmid:22805177
    CrossRefPubMedWeb of Science
  17. 17.↵
    1. Sonigo P,
    2. Elmaleh A,
    3. Brunelle E, et al
    . Prenatal MRI diagnosis of fetal cerebral tuberous sclerosis. Pediatr Radiol 1996;26:1–4 doi:10.1007/BF01403693 pmid:8598986
    CrossRefPubMed
  18. 18.↵
    1. Pluym ID,
    2. Sklansky M,
    3. Wu JY, et al
    . Fetal cardiac rhabdomyomas treated with maternal sirolimus. Prenat Diagn 2020;40:358–64 doi:10.1002/pd.5613 pmid:31742705
    CrossRefPubMed
  19. 19.↵
    1. Brackley KJ,
    2. Farndon PA,
    3. Weaver JB, et al
    . Prenatal diagnosis of tuberous sclerosis with intracerebral signs at 14 weeks’ gestation. Prenat Diagn 1999;19:575–79 doi:10.1002/(sici)1097-0223(199906)19:6<575::aid-pd580>3.0.co;2-r pmid:10416977
    CrossRefPubMed
  20. 20.↵
    1. Borțea CI,
    2. David VL,
    3. Stoica F, et al
    . The value of imagistics in early diagnosis of tuberous sclerosis. Case Rep Pediatr 2020;2020:1309184 doi:10.1155/2020/1309184 pmid:32231836
    CrossRefPubMed
  21. 21.↵
    1. Mongrain V,
    2. van Doesburg NH,
    3. Rypens F, et al
    . A case report of severe tuberous sclerosis complex detected in utero and linked to a novel duplication in the TSC2 gene. BMC Neurol 2020;20:324 doi:10.1186/s12883-020-01905-y pmid:32873234
    CrossRefPubMed
  22. 22.↵
    1. Axt-Fliedner R,
    2. Qush H,
    3. Hendrik HJ, et al
    . Prenatal diagnosis of cerebral lesions and multiple intracardiac rhabdomyomas in a fetus with tuberous sclerosis. J Ultrasound Med 2001;20:63–67 doi:10.7863/jum.2001.20.1.63 pmid:11149531
    CrossRefPubMed
  23. 23.↵
    1. Gu X,
    2. Han L,
    3. Chen J, et al
    . Antenatal screening and diagnosis of tuberous sclerosis complex by fetal echocardiography and targeted genomic sequencing. Medicine (Baltimore) 2018;97:e0112 doi:10.1097/MD.0000000000010112 pmid:29642139
    CrossRefPubMed
  24. 24.↵
    1. Rossi AC,
    2. Prefumo F
    . Additional value of fetal magnetic resonance imaging in the prenatal diagnosis of central nervous system anomalies: a systematic review of the literature. Ultrasound Obstet Gynecol 2014;44:388–93 doi:10.1002/uog.13429 pmid:24890732
    CrossRefPubMed
PreviousNext
Back to top

In this issue

American Journal of Neuroradiology: 43 (4)
American Journal of Neuroradiology
Vol. 43, Issue 4
1 Apr 2022
  • Table of Contents
  • Index by author
  • Complete Issue (PDF)
Advertisement
Print
Download PDF
Email Article

Thank you for your interest in spreading the word on American Journal of Neuroradiology.

NOTE: We only request your email address so that the person you are recommending the page to knows that you wanted them to see it, and that it is not junk mail. We do not capture any email address.

Enter multiple addresses on separate lines or separate them with commas.
Prenatal MR Imaging Phenotype of Fetuses with Tuberous Sclerosis: An Institutional Case Series and Literature Review
(Your Name) has sent you a message from American Journal of Neuroradiology
(Your Name) thought you would like to see the American Journal of Neuroradiology web site.
CAPTCHA
This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.
Cite this article
S.K. Goergen, M.C. Fahey
Prenatal MR Imaging Phenotype of Fetuses with Tuberous Sclerosis: An Institutional Case Series and Literature Review
American Journal of Neuroradiology Apr 2022, 43 (4) 633-638; DOI: 10.3174/ajnr.A7455

Citation Manager Formats

  • BibTeX
  • Bookends
  • EasyBib
  • EndNote (tagged)
  • EndNote 8 (xml)
  • Medlars
  • Mendeley
  • Papers
  • RefWorks Tagged
  • Ref Manager
  • RIS
  • Zotero
0 Responses
Respond to this article
Share
Bookmark this article
Prenatal MR Imaging Phenotype of Fetuses with Tuberous Sclerosis: An Institutional Case Series and Literature Review
S.K. Goergen, M.C. Fahey
American Journal of Neuroradiology Apr 2022, 43 (4) 633-638; DOI: 10.3174/ajnr.A7455
del.icio.us logo Twitter logo Facebook logo Mendeley logo
  • Tweet Widget
  • Facebook Like
  • Google Plus One
Purchase

Jump to section

  • Article
    • Abstract
    • ABBREVIATIONS:
    • MATERIALS AND METHODS
    • RESULTS
    • DISCUSSION
    • CONCLUSIONS
    • Acknowledgments
    • Footnotes
    • References
  • Figures & Data
  • Supplemental
  • Info & Metrics
  • Responses
  • References
  • PDF

Related Articles

  • PubMed
  • Google Scholar

Cited By...

  • Early Diagnosis of Tuberous Sclerosis Complex: Prenatal Diagnosis
  • Crossref
  • Google Scholar

This article has not yet been cited by articles in journals that are participating in Crossref Cited-by Linking.

More in this TOC Section

  • Frontal Paraventricular Cysts
  • Sodium MRI in Pediatric Brain Tumors
  • FRACTURE MR in Congenital Vertebral Anomalies
Show more Pediatric Neuroimaging

Similar Articles

Advertisement

Indexed Content

  • Current Issue
  • Accepted Manuscripts
  • Article Preview
  • Past Issues
  • Editorials
  • Editor's Choice
  • Fellows' Journal Club
  • Letters to the Editor
  • Video Articles

Cases

  • Case Collection
  • Archive - Case of the Week
  • Archive - Case of the Month
  • Archive - Classic Case

More from AJNR

  • Trainee Corner
  • Imaging Protocols
  • MRI Safety Corner
  • Book Reviews

Multimedia

  • AJNR Podcasts
  • AJNR Scantastics

Resources

  • Turnaround Time
  • Submit a Manuscript
  • Submit a Video Article
  • Submit an eLetter to the Editor/Response
  • Manuscript Submission Guidelines
  • Statistical Tips
  • Fast Publishing of Accepted Manuscripts
  • Graphical Abstract Preparation
  • Imaging Protocol Submission
  • Evidence-Based Medicine Level Guide
  • Publishing Checklists
  • Author Policies
  • Become a Reviewer/Academy of Reviewers
  • News and Updates

About Us

  • About AJNR
  • Editorial Board
  • Editorial Board Alumni
  • Alerts
  • Permissions
  • Not an AJNR Subscriber? Join Now
  • Advertise with Us
  • Librarian Resources
  • Feedback
  • Terms and Conditions
  • AJNR Editorial Board Alumni

American Society of Neuroradiology

  • Not an ASNR Member? Join Now

© 2025 by the American Society of Neuroradiology All rights, including for text and data mining, AI training, and similar technologies, are reserved.
Print ISSN: 0195-6108 Online ISSN: 1936-959X

Powered by HighWire