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Erschienen in: Pediatric Radiology 5/2007

01.05.2007 | Original Article

Value of fetal cerebral MRI in sonographically proven cardiac rhabdomyoma

verfasst von: Matthias R. Mühler, Annett Rake, Michael Schwabe, Susanne Schmidt, Dietmar Kivelitz, Rabih Chaoui, Bernd Hamm

Erschienen in: Pediatric Radiology | Ausgabe 5/2007

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Abstract

Background

Tuberous sclerosis complex (TSC) is an autosomal dominant phakomatosis associated with intracardiac rhabdomyomas.

Objective

The aim of our study was to examine the value of cerebral MRI in diagnosing TSC in fetuses with intracardiac rhabdomyomas, applying the TSC Consensus Conference (TSCCC) criteria.

Materials and methods

In a prospective manner six consecutive fetuses with cardiac rhabdomyomas (21–34 weeks’ gestation) underwent cerebral MRI. The MRI results were correlated with clinical follow-up at 10–34 months after birth, histology, and genetic data.

Results

In five of the six fetuses the diagnosis of TSC was established. In two of five fetuses MRI demonstrated cerebral manifestations of TSC that correlated well with severe epilepsy manifesting during the follow-up period. In another two of five fetuses MRI as well as clinical follow-up were normal. One of five pregnancies was terminated and histology demonstrated microscopically small subependymal nodules not demonstrated by MRI.

Conclusion

The results of our study agree with the available literature that fetal MRI is sufficient for the detection of cerebral lesions in TSC and should be better promoted. The TSCCC criteria can also be applied to fetal MRI.
Literatur
1.
Zurück zum Zitat 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 175:1067–1069PubMed 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 175:1067–1069PubMed
2.
Zurück zum Zitat 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 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.
Zurück zum Zitat Baron Y, Barkovich AJ (1999) MR imaging of tuberous sclerosis in neonates and young infants. AJNR 20:907–916PubMed Baron Y, Barkovich AJ (1999) MR imaging of tuberous sclerosis in neonates and young infants. AJNR 20:907–916PubMed
4.
Zurück zum Zitat Griffiths PD, Martland TR (1997) Tuberous sclerosis complex: the role of neuroradiology. Neuropediatrics 28:244–252PubMedCrossRef Griffiths PD, Martland TR (1997) Tuberous sclerosis complex: the role of neuroradiology. Neuropediatrics 28:244–252PubMedCrossRef
5.
Zurück zum Zitat Sonigo P, Elmaleh A, Fermont L et al (1996) Prenatal MRI diagnosis of fetal cerebral tuberous sclerosis. Pediatr Radiol 26:1–4PubMedCrossRef Sonigo P, Elmaleh A, Fermont L et al (1996) Prenatal MRI diagnosis of fetal cerebral tuberous sclerosis. Pediatr Radiol 26:1–4PubMedCrossRef
6.
Zurück zum Zitat Yeo W, Leong A, Ward SC et al (1996) Hepatic angiomyelolipoma and tuberous sclerosis. J Gastroenterol Hepatol 11:196–198PubMed Yeo W, Leong A, Ward SC et al (1996) Hepatic angiomyelolipoma and tuberous sclerosis. J Gastroenterol Hepatol 11:196–198PubMed
7.
Zurück zum Zitat Severien C, Kasten S, Kirchner T et al (2003) Pulmonale Manifestation bei tuberöser Sklerose. Monatsschr Kinderheilkd 151:1306–1310CrossRef Severien C, Kasten S, Kirchner T et al (2003) Pulmonale Manifestation bei tuberöser Sklerose. Monatsschr Kinderheilkd 151:1306–1310CrossRef
8.
Zurück zum Zitat 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 10:237–239PubMedCrossRef 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 10:237–239PubMedCrossRef
9.
Zurück zum Zitat 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 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.
Zurück zum Zitat Wagner M, Fitz H, Schindler C (1996) Early manifestation of polycystic kidney changes in tuberous sclerosis. Pathologe 17:462–466PubMedCrossRef Wagner M, Fitz H, Schindler C (1996) Early manifestation of polycystic kidney changes in tuberous sclerosis. Pathologe 17:462–466PubMedCrossRef
11.
Zurück zum Zitat Roach ES, Gomez MR, Northrup H (1998) Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J Child Neurol 13:624–628PubMed Roach ES, Gomez MR, Northrup H (1998) Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J Child Neurol 13:624–628PubMed
12.
Zurück zum Zitat Carette MF, Antoine M, Bazelly B et al (2006) Primary pulmonary artery aneurysm in tuberous sclerosis: CT, angiography and pathological study. Eur Radiol 16:2369–2370PubMedCrossRef Carette MF, Antoine M, Bazelly B et al (2006) Primary pulmonary artery aneurysm in tuberous sclerosis: CT, angiography and pathological study. Eur Radiol 16:2369–2370PubMedCrossRef
13.
Zurück zum Zitat Borelli S (1999) Koenen, Kothe and peri-ungal fibroma in tuberous sclerosis. Hautarzt 50:368–369PubMedCrossRef Borelli S (1999) Koenen, Kothe and peri-ungal fibroma in tuberous sclerosis. Hautarzt 50:368–369PubMedCrossRef
14.
Zurück zum Zitat Barkovich AJ (2000) Tuberous sclerosis (Bourneville’s disease). In: Barkovich AJ (ed) Pediatric neuroimaging, 3rd edn. Lippincott Williams & Wilkins, Philadelphia, pp 404–415 Barkovich AJ (2000) Tuberous sclerosis (Bourneville’s disease). In: Barkovich AJ (ed) Pediatric neuroimaging, 3rd edn. Lippincott Williams & Wilkins, Philadelphia, pp 404–415
15.
Zurück zum Zitat Garel C (2004) Tuberous sclerosis complex. In: Garel C (ed) MRI of the fetal brain. Springer, Berlin, pp 172–173 Garel C (2004) Tuberous sclerosis complex. In: Garel C (ed) MRI of the fetal brain. Springer, Berlin, pp 172–173
16.
Zurück zum Zitat 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 13:59–68PubMedCrossRef 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 13:59–68PubMedCrossRef
17.
Zurück zum Zitat 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 99:13571–13576PubMedCrossRef 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 99:13571–13576PubMedCrossRef
18.
Zurück zum Zitat van Slegtenhorst M, Nellist M, Nagelkerken B et al (1998) Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products. Hum Mol Genet 7:1053–1057PubMedCrossRef van Slegtenhorst M, Nellist M, Nagelkerken B et al (1998) Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products. Hum Mol Genet 7:1053–1057PubMedCrossRef
19.
Zurück zum Zitat 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 36:285–289PubMed 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 36:285–289PubMed
20.
Zurück zum Zitat van Slegtenhorst M, de Hoogt R, Hermans C et al (1997) Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 277:805–808PubMedCrossRef van Slegtenhorst M, de Hoogt R, Hermans C et al (1997) Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 277:805–808PubMedCrossRef
21.
Zurück zum Zitat European Chromosome 16 Tuberous Sclerosis Consortium (1993) Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 75:1305–1315 European Chromosome 16 Tuberous Sclerosis Consortium (1993) Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 75:1305–1315
22.
Zurück zum Zitat 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 64:1305–1315PubMedCrossRef 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 64:1305–1315PubMedCrossRef
23.
Zurück zum Zitat Yates JR, van Bakel I, Sepp T et al (1997) Female germline mosaicism in tuberous sclerosis confirmed by molecular genetic analysis. Hum Mol Genet 6:2265–2269PubMedCrossRef Yates JR, van Bakel I, Sepp T et al (1997) Female germline mosaicism in tuberous sclerosis confirmed by molecular genetic analysis. Hum Mol Genet 6:2265–2269PubMedCrossRef
24.
Zurück zum Zitat Jentarra G, Snyder SL, Narayanan V (2006) Genetic aspects of neurocutaneous disorders. Semin Pediatr Neurol 13:43–47PubMedCrossRef Jentarra G, Snyder SL, Narayanan V (2006) Genetic aspects of neurocutaneous disorders. Semin Pediatr Neurol 13:43–47PubMedCrossRef
25.
Zurück zum Zitat Narayanan V (2003) Tuberous sclerosis complex: genetics to pathogenesis. Pediatr Neurol 29:404–409PubMedCrossRef Narayanan V (2003) Tuberous sclerosis complex: genetics to pathogenesis. Pediatr Neurol 29:404–409PubMedCrossRef
26.
Zurück zum Zitat Jozwiak J (2006) Hamartin and tuberin: working together for tumour suppression. Int J Cancer 118:1–5PubMedCrossRef Jozwiak J (2006) Hamartin and tuberin: working together for tumour suppression. Int J Cancer 118:1–5PubMedCrossRef
27.
Zurück zum Zitat Rose VM, Au KS, Pollom G et al (1999) Germ-line mosaicism in tuberous sclerosis: how common? Am J Hum Genet 64:986–992PubMedCrossRef Rose VM, Au KS, Pollom G et al (1999) Germ-line mosaicism in tuberous sclerosis: how common? Am J Hum Genet 64:986–992PubMedCrossRef
28.
Zurück zum Zitat Roach ES, Sparagana SP (2004) Diagnosis of tuberous sclerosis complex. J Child Neurol 19:643–649PubMed Roach ES, Sparagana SP (2004) Diagnosis of tuberous sclerosis complex. J Child Neurol 19:643–649PubMed
29.
Zurück zum Zitat Kothur K, Ray M (2006) Antenatal MRI in the diagnosis of tuberous sclerosis. Indian Pediatr 43:1007–1008PubMed Kothur K, Ray M (2006) Antenatal MRI in the diagnosis of tuberous sclerosis. Indian Pediatr 43:1007–1008PubMed
30.
Zurück zum Zitat Roach ES, DiMario FJ, Kandt RS et al (1999) Tuberous Sclerosis Consensus Conference: recommendations for diagnostic evaluation. National Tuberous Sclerosis Association. J Child Neurol 14:401–407PubMed Roach ES, DiMario FJ, Kandt RS et al (1999) Tuberous Sclerosis Consensus Conference: recommendations for diagnostic evaluation. National Tuberous Sclerosis Association. J Child Neurol 14:401–407PubMed
31.
Zurück zum Zitat Shepherd CW, Houser OW, Gomez MR (1995) MR findings in tuberous sclerosis complex and correlation with seizure development and mental impairment. AJNR 16:149–155PubMed Shepherd CW, Houser OW, Gomez MR (1995) MR findings in tuberous sclerosis complex and correlation with seizure development and mental impairment. AJNR 16:149–155PubMed
32.
Zurück zum Zitat Goh S, Butler W, Thiele EA (2004) Subependymal giant cell tumors in tuberous sclerosis complex. Neurology 63:1457–1461PubMed Goh S, Butler W, Thiele EA (2004) Subependymal giant cell tumors in tuberous sclerosis complex. Neurology 63:1457–1461PubMed
33.
Zurück zum Zitat Christophe C, Bartholome J, Blum D et al (1989) Neonatal tuberous sclerosis. US, CT, and MR diagnosis of brain and cardiac lesions. Pediatr Radiol 19:446–448PubMedCrossRef Christophe C, Bartholome J, Blum D et al (1989) Neonatal tuberous sclerosis. US, CT, and MR diagnosis of brain and cardiac lesions. Pediatr Radiol 19:446–448PubMedCrossRef
34.
Zurück zum Zitat Sgro M, Barozzino T, Toi A et al (1999) Prenatal detection of cerebral lesions in a fetus with tuberous sclerosis. Ultrasound Obstet Gynecol 14:356–359PubMedCrossRef Sgro M, Barozzino T, Toi A et al (1999) Prenatal detection of cerebral lesions in a fetus with tuberous sclerosis. Ultrasound Obstet Gynecol 14:356–359PubMedCrossRef
35.
36.
Zurück zum Zitat Brackley KJ, Farndon PA, Weaver JB et al (1999) Prenatal diagnosis of tuberous sclerosis with intracerebral signs at 14 weeks’ gestation. Prenat Diagn 19:575–579PubMedCrossRef Brackley KJ, Farndon PA, Weaver JB et al (1999) Prenatal diagnosis of tuberous sclerosis with intracerebral signs at 14 weeks’ gestation. Prenat Diagn 19:575–579PubMedCrossRef
37.
Zurück zum Zitat Beghetti M, Gow RM, Haney I et al (1997) Pediatric primary benign cardiac tumors: a 15-year review. Am Heart J 134:1107–1114PubMedCrossRef Beghetti M, Gow RM, Haney I et al (1997) Pediatric primary benign cardiac tumors: a 15-year review. Am Heart J 134:1107–1114PubMedCrossRef
38.
Zurück zum Zitat 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 26:516–520PubMedCrossRef 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 26:516–520PubMedCrossRef
39.
Zurück zum Zitat Harding CO, Pagon RA (1990) Incidence of tuberous sclerosis in patients with cardiac rhabdomyoma. Am J Med Genet 37:443–446PubMedCrossRef Harding CO, Pagon RA (1990) Incidence of tuberous sclerosis in patients with cardiac rhabdomyoma. Am J Med Genet 37:443–446PubMedCrossRef
40.
Zurück zum Zitat 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 20:63–67PubMed 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 20:63–67PubMed
41.
Zurück zum Zitat Crawford DC, Garrett C, Tynan M et al (1983) Cardiac rhabdomyomata as a marker for the antenatal detection of tuberous sclerosis. J Med Genet 20:303–304PubMedCrossRef Crawford DC, Garrett C, Tynan M et al (1983) Cardiac rhabdomyomata as a marker for the antenatal detection of tuberous sclerosis. J Med Genet 20:303–304PubMedCrossRef
42.
Zurück zum Zitat Wallace G, Smith HC, Watson GH et al (1990) Tuberous sclerosis presenting with fetal and neonatal cardiac tumours. Arch Dis Child 65:377–379PubMed Wallace G, Smith HC, Watson GH et al (1990) Tuberous sclerosis presenting with fetal and neonatal cardiac tumours. Arch Dis Child 65:377–379PubMed
43.
Zurück zum Zitat Gushiken BJ, Callen PW, Silverman NH (1999) Prenatal diagnosis of tuberous sclerosis in monozygotic twins with cardiac masses. J Ultrasound Med 18:165–168PubMed Gushiken BJ, Callen PW, Silverman NH (1999) Prenatal diagnosis of tuberous sclerosis in monozygotic twins with cardiac masses. J Ultrasound Med 18:165–168PubMed
44.
Zurück zum Zitat 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 7:221–224PubMed 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 7:221–224PubMed
45.
Zurück zum Zitat Menor F, Marti-Bonmati L, Mulas F et al (1992) Neuroimaging in tuberous sclerosis: a clinicoradiological evaluation in pediatric patients. Pediatr Radiol 22:485–489PubMedCrossRef Menor F, Marti-Bonmati L, Mulas F et al (1992) Neuroimaging in tuberous sclerosis: a clinicoradiological evaluation in pediatric patients. Pediatr Radiol 22:485–489PubMedCrossRef
46.
Zurück zum Zitat Chou PC, Chang YJ (2004) Prognostic factors for mental retardation in patients with tuberous sclerosis complex. Acta Neurol Taiwan 13:10–13PubMed Chou PC, Chang YJ (2004) Prognostic factors for mental retardation in patients with tuberous sclerosis complex. Acta Neurol Taiwan 13:10–13PubMed
47.
Zurück zum Zitat 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 16:621–626PubMedCrossRef 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 16:621–626PubMedCrossRef
48.
Zurück zum Zitat 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 50:319–323CrossRef 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 50:319–323CrossRef
49.
Zurück zum Zitat Gottschling S, Larsen R, Meyer S et al (2005) Acute pancreatitis induced by short-term propofol administration. Paediatr Anaesth 15:1006–1008PubMedCrossRef Gottschling S, Larsen R, Meyer S et al (2005) Acute pancreatitis induced by short-term propofol administration. Paediatr Anaesth 15:1006–1008PubMedCrossRef
50.
Zurück zum Zitat Kitsa P, Andronikou S, Cardoso JF (2004) Sedation of children undergoing MRI – a risky business! S Afr Med J 94:625–626PubMed Kitsa P, Andronikou S, Cardoso JF (2004) Sedation of children undergoing MRI – a risky business! S Afr Med J 94:625–626PubMed
51.
Zurück zum Zitat Sury MR, Harker H, Begent J et al (2005) The management of infants and children for painless imaging. Clin Radiol 60:731–741PubMedCrossRef Sury MR, Harker H, Begent J et al (2005) The management of infants and children for painless imaging. Clin Radiol 60:731–741PubMedCrossRef
52.
Zurück zum Zitat Brugger PC, Stuhr F, Lindner C et al (2006) Methods of fetal MR: beyond T2-weighted imaging. Eur J Radiol 57:172–181PubMedCrossRef Brugger PC, Stuhr F, Lindner C et al (2006) Methods of fetal MR: beyond T2-weighted imaging. Eur J Radiol 57:172–181PubMedCrossRef
53.
Zurück zum Zitat Garel C (2005) Fetal cerebral biometry: normal parenchymal findings and ventricular size. Eur Radiol 15:809–813PubMedCrossRef Garel C (2005) Fetal cerebral biometry: normal parenchymal findings and ventricular size. Eur Radiol 15:809–813PubMedCrossRef
54.
Zurück zum Zitat Garel C, Chantrel E, Elmaleh M et al (2003) Fetal MRI: normal gestational landmarks for cerebral biometry, gyration and myelination. Childs Nerv Syst 19:422–425PubMedCrossRef Garel C, Chantrel E, Elmaleh M et al (2003) Fetal MRI: normal gestational landmarks for cerebral biometry, gyration and myelination. Childs Nerv Syst 19:422–425PubMedCrossRef
55.
Zurück zum Zitat Glenn OA, Barkovich AJ (2006) Magnetic resonance imaging of the fetal brain and spine: an increasingly important tool in prenatal diagnosis, part 1. AJNR 27:1604–1611PubMed Glenn OA, Barkovich AJ (2006) Magnetic resonance imaging of the fetal brain and spine: an increasingly important tool in prenatal diagnosis, part 1. AJNR 27:1604–1611PubMed
Metadaten
Titel
Value of fetal cerebral MRI in sonographically proven cardiac rhabdomyoma
verfasst von
Matthias R. Mühler
Annett Rake
Michael Schwabe
Susanne Schmidt
Dietmar Kivelitz
Rabih Chaoui
Bernd Hamm
Publikationsdatum
01.05.2007
Verlag
Springer-Verlag
Erschienen in
Pediatric Radiology / Ausgabe 5/2007
Print ISSN: 0301-0449
Elektronische ISSN: 1432-1998
DOI
https://doi.org/10.1007/s00247-007-0436-y

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