Value of fetal cerebral MRI in sonographically proven cardiac rhabdomyoma

Pediatric Radiology

Volumn 37, Issue 5, 2007, Pages 467-474

  Mühler, Matthias R ^a,d   Rake, Annett ^a   Schwabe, Michael ^a   Schmidt, Susanne ^a   Kivelitz, Dietmar ^b   Chaoui, Rabih ^c   Hamm, Bernd ^a  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b UNIVERSITY OF LEIPZIG HEART CENTER   (Germany)

^c Prenatal Diagnosis and Human Genetics   (Germany)

^d UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

Fetal MRI; Heart; Rhabdomyoma; Tuberous sclerosis

Indexed keywords

ARTICLE; BRAIN DISEASE; CHILD; CLINICAL ARTICLE; CONSENSUS DEVELOPMENT; DEVICE; DIAGNOSTIC VALUE; DISEASE SEVERITY; ECHOGRAPHY; EPILEPSY; FETUS; FOLLOW UP; GESTATIONAL AGE; HEART TUMOR; HUMAN; INFANT; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PERINATAL PERIOD; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROSPECTIVE STUDY; RHABDOMYOMA; TUBEROUS SCLEROSIS;

BRAIN; CHILD, PRESCHOOL; FEMALE; FETAL DISEASES; FOLLOW-UP STUDIES; HEART NEOPLASMS; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MYOCARDIUM; OBSERVER VARIATION; PREDICTIVE VALUE OF TESTS; PREGNANCY; PROSPECTIVE STUDIES; RHABDOMYOMA; TUBEROUS SCLEROSIS; ULTRASONOGRAPHY, DOPPLER; ULTRASONOGRAPHY, PRENATAL;

EID: 34147096062     PISSN: 03010449     EISSN: 14321998     Source Type: Journal    
DOI: 10.1007/s00247-007-0436-y     Document Type: Article

References (55)

1. Levine D, Barnes P, Korf B et al (2000) Tuberous sclerosis in the fetus: second-trimester diagnosis of subependymal tubers with ultrafast MR imaging. AJR 175:1067-1069
2. Hay WW, Groothuis JR, Hayward AR et al (1995) Tuberous sclerosis (Bourneville's disease). In: Hay WW, Groothuis JR, Hayward AR et al (eds) Current pediatric diagnosis and treatment. Appleton & Lange, Norwalk, pp 753-754
3. Baron Y, Barkovich AJ (1999) MR imaging of tuberous sclerosis in neonates and young infants. AJNR 20:907-916
4. Griffiths PD, Martland TR (1997) Tuberous sclerosis complex: The role of neuroradiology. Neuropediatrics 28:244-252
5. Sonigo P, Elmaleh A, Fermont L et al (1996) Prenatal MRI diagnosis of fetal cerebral tuberous sclerosis. Pediatr Radiol 26:1-4
6. Yeo W, Leong A, Ward SC et al (1996) Hepatic angiomyelolipoma and tuberous sclerosis. J Gastroenterol Hepatol 11:196-198
7. Severien C, Kasten S, Kirchner T et al (2003) Pulmonale Manifestation bei tuberöser Sklerose. Monatsschr Kinderheilkd 151:1306-1310
8. Vargas-Gonzalez R, San Martin-Brieke W, Gil-Orduna C et al (2004) Desmoplastic fibroma-like tumor of maxillofacial region associated with tuberous sclerosis. Pathol Oncol Res 10:237-239
9. Nyberg DA, Jeanty P, Glass I (2003) Tuberous sclerosis. In: Nyberg DA, McGahan JP, Pretorius DH et al (eds) Diagnostic imaging of fetal anomalies. Lippincott Williams & Wilkins, Philadelphia, pp 176-178
10. Wagner M, Fitz H, Schindler C (1996) Early manifestation of polycystic kidney changes in tuberous sclerosis. Pathologe 17:462-466
11. Roach ES, Gomez MR, Northrup H (1998) Tuberous sclerosis complex consensus conference: Revised clinical diagnostic criteria. J Child Neurol 13:624-628
12. Carette MF, Antoine M, Bazelly B et al (2006) Primary pulmonary artery aneurysm in tuberous sclerosis: CT, angiography and pathological study. Eur Radiol 16:2369-2370
13. Borelli S (1999) Koenen, Kothe and peri-ungal fibroma in tuberous sclerosis. Hautarzt 50:368-369
14. Barkovich AJ (2000) Tuberous sclerosis (Bourneville's disease). In: Barkovich AJ (ed) Pediatric neuroimaging, 3rd edn. Lippincott Williams & Wilkins, Philadelphia, pp 404-415
15. Garel C (2004) Tuberous sclerosis complex. In: Garel C (ed) MRI of the fetal brain. Springer, Berlin, pp 172-173
16. Nellist M, Sancak O, Goedbloed MA et al (2005) Distinct effects of single amino-acid changes to tuberin on the function of the tuberin-hamartin complex. Eur J Hum Genet 13:59-68
17. Tee AR, Fingar DC, Manning BD et al (2002) Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling. Proc Natl Acad Sci USA 99:13571-13576
18. van Slegtenhorst M, Nellist M, Nagelkerken B et al (1998) Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products. Hum Mol Genet 7:1053-1057
19. van Slegtenhorst M, Verhoef S, Tempelaars A et al (1999) Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: No evidence for genotype-phenotype correlation. J Med Genet 36:285-289
20. van Slegtenhorst M, de Hoogt R, Hermans C et al (1997) Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 277:805-808
21. European Chromosome 16 Tuberous Sclerosis Consortium (1993) Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 75:1305-1315
22. Jones AC, Shyamsundar MM, Thomas MW et al (1999) Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis. Am J Hum Genet 64:1305-1315
23. Yates JR, van Bakel I, Sepp T et al (1997) Female germline mosaicism in tuberous sclerosis confirmed by molecular genetic analysis. Hum Mol Genet 6:2265-2269
24. Jentarra G, Snyder SL, Narayanan V (2006) Genetic aspects of neurocutaneous disorders. Semin Pediatr Neurol 13:43-47
25. Narayanan V (2003) Tuberous sclerosis complex: Genetics to pathogenesis. Pediatr Neurol 29:404-409
26. Jozwiak J (2006) Hamartin and tuberin: Working together for tumour suppression. Int J Cancer 118:1-5
27. Rose VM, Au KS, Pollom G et al (1999) Germ-line mosaicism in tuberous sclerosis: How common? Am J Hum Genet 64:986-992
28. Roach ES, Sparagana SP (2004) Diagnosis of tuberous sclerosis complex. J Child Neurol 19:643-649
29. Kothur K, Ray M (2006) Antenatal MRI in the diagnosis of tuberous sclerosis. Indian Pediatr 43:1007-1008
30. Roach ES, DiMario FJ, Kandt RS et al (1999) Tuberous Sclerosis Consensus Conference: Recommendations for diagnostic evaluation. National Tuberous Sclerosis Association. J Child Neurol 14:401-407
31. Shepherd CW, Houser OW, Gomez MR (1995) MR findings in tuberous sclerosis complex and correlation with seizure development and mental impairment. AJNR 16:149-155
32. Goh S, Butler W, Thiele EA (2004) Subependymal giant cell tumors in tuberous sclerosis complex. Neurology 63:1457-1461
33. Christophe C, Bartholome J, Blum D et al (1989) Neonatal tuberous sclerosis. US, CT, and MR diagnosis of brain and cardiac lesions. Pediatr Radiol 19:446-448
34. Sgro M, Barozzino T, Toi A et al (1999) Prenatal detection of cerebral lesions in a fetus with tuberous sclerosis. Ultrasound Obstet Gynecol 14:356-359
35. Kim BS, LaMarca V, Jallo GI (2002) Tuberous sclerosis. Pediatr Neurosurg 37:276-277
36. Brackley KJ, Farndon PA, Weaver JB et al (1999) Prenatal diagnosis of tuberous sclerosis with intracerebral signs at 14 weeks' gestation. Prenat Diagn 19:575-579
37. Beghetti M, Gow RM, Haney I et al (1997) Pediatric primary benign cardiac tumors: A 15-year review. Am Heart J 134:1107-1114
38. Holley DG, Martin GR, Brenner JI et al (1995) Diagnosis and management of fetal cardiac tumors: A multicenter experience and review of published reports. J Am Coll Cardiol 26:516-520
39. Harding CO, Pagon RA (1990) Incidence of tuberous sclerosis in patients with cardiac rhabdomyoma. Am J Med Genet 37:443-446
40. Axt-Fliedner R, Qush H, Hendrik HJ et al (2001) Prenatal diagnosis of cerebral lesions and multiple intracardiac rhabdomyomas in a fetus with tuberous sclerosis. J Ultrasound Med 20:63-67
41. Crawford DC, Garrett C, Tynan M et al (1983) Cardiac rhabdomyomata as a marker for the antenatal detection of tuberous sclerosis. J Med Genet 20:303-304
42. Wallace G, Smith HC, Watson GH et al (1990) Tuberous sclerosis presenting with fetal and neonatal cardiac tumours. Arch Dis Child 65:377-379
43. Gushiken BJ, Callen PW, Silverman NH (1999) Prenatal diagnosis of tuberous sclerosis in monozygotic twins with cardiac masses. J Ultrasound Med 18:165-168
44. Roach ES, Smith M, Huttenlocher P et al (1992) Diagnostic criteria: tuberous sclerosis complex. Report of the Diagnostic Criteria Committee of the National Tuberous Sclerosis Association. J Child Neurol 7:221-224
45. Menor F, Marti-Bonmati L, Mulas F et al (1992) Neuroimaging in tuberous sclerosis: A clinicoradiological evaluation in pediatric patients. Pediatr Radiol 22:485-489
46. Chou PC, Chang YJ (2004) Prognostic factors for mental retardation in patients with tuberous sclerosis complex. Acta Neurol Taiwan 13:10-13
47. Cengiz M, Baysal Z, Ganidagli S (2006) Oral sedation with midazolam and diphenhydramine compared with midazolam alone in children undergoing magnetic resonance imaging. Paediatr Anaesth 16:621-626
48. de Amorim ES, Mackenzie A, Hallowell L et al (2006) Practice MRI: reducing the need for sedation and general anaesthesia in children undergoing MRI. Australas Radiol 50:319-323
49. Gottschling S, Larsen R, Meyer S et al (2005) Acute pancreatitis induced by short-term propofol administration. Paediatr Anaesth 15:1006-1008
50. Kitsa P, Andronikou S, Cardoso JF (2004) Sedation of children undergoing MRI - a risky business! S Afr Med J 94:625-626
51. Sury MR, Harker H, Begent J et al (2005) The management of infants and children for painless imaging. Clin Radiol 60:731-741
52. Brugger PC, Stuhr F, Lindner C et al (2006) Methods of fetal MR: Beyond T2-weighted imaging. Eur J Radiol 57:172-181
53. Garel C (2005) Fetal cerebral biometry: Normal parenchymal findings and ventricular size. Eur Radiol 15:809-813
54. Garel C, Chantrel E, Elmaleh M et al (2003) Fetal MRI: Normal gestational landmarks for cerebral biometry, gyration and myelination. Childs Nerv Syst 19:422-425
55. Glenn OA, Barkovich AJ (2006) Magnetic resonance imaging of the fetal brain and spine: An increasingly important tool in prenatal diagnosis, part 1. AJNR 27:1604-1611