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

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 May 6. [Epub ahead of print] doi:10.3174/ajnr.A7131 pmid:33958329

   CrossRefPubMed
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