The Neuroradiology Journal 20: 494-499, 2007
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Brain MRI in Fetuses with Cardiac Tumours E. JURKIEWICZ*, M. BEKIESIŃSKA-FIGATOWSKA**, A. ROMANIUK-DOROSZEWSKA**, J. DANGEL*** * MRI Unit, Children’s Memorial Health Institute; ** Depatment of Diagnostic Imaging, Institute of Mother and Child; *** II Department of Gynecology and Obstetrics, Medical Academy; Warsaw, Poland
Key words: magnetic resonance imaging (MRI), ultrasound (US), tuberous sclerosis complex (TSC), prenatal diagnosis
SUMMARY – Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder which affects the skin, brain, heart and other organs. It is caused by mutations of two genes: TSC1 (on chromosome 9q34) or TSC2 (on 16p13.3). 70% of cases are sporadic with new mutations. This study aimed to highlight the utility of prenatal MRI as an adjunct imaging modality in the diagnosis and prognosis of tuberous sclerosis complex. Prenatal ultrasound and magnetic resonance imaging were performed in seven fetuses at a gestational age of 30, 32, 34 and 35 weeks using a 1.5 T MRI scanner. SSFSE,T2- and FGRE/T1-weighted images were obtained in axial, coronal and sagittal planes. Postnatal MRI was performed in two cases. Intracardiac tumors (rhabdomyomas) were revealed on ultrasound in all fetuses. On sonographic examination the brain tissue appeared normal in all cases. Brain MRI revealed focal low-signal-intensity lesions, localized along the walls of the lateral ventricles of five fetuses. Another hypointense lesion was seen at the grey/white matter junction in one case. Brain MRI of two fetuses was normal. The diagnosis of TSC was established in five cases. Postnatal MRI in two cases confirmed prenatal findings. MRI allows more complete evaluation of the fetus and helps to determine the diagnosis and prognosis in cases of TSC. The use of prenatal MR imaging in addition to prenatal sonography has the potential to improve genetic counseling and prenatal diagnosis of patients with tuberous sclerosis.
Introduction Tuberous sclerosis complex (TSC) is a genetic disease with an autosomal dominant mode of inheritance and an incidence of 1:10 000. Mutations of two genes have been identified as the cause of the disease: TSC1 on chromosome 9 (9q34) and TSC2 on chromosome 16 (16p13). In 60-70% of cases new mutations are found and the familial character of TSC cannot be confirmed. TSC is a multisystem disorder affecting the skin, brain, heart, kidneys and other organs. The classic symptoms include adenoma sebaceum, epilepsy (seizures in 60-80% of cases) and mental retardation. The list of diagnostic criteria was modified by the Tuberous Sclerosis Complex Consensus Conference in 1998. Prenatal sonography allows visualisation of fetal cardiac tumours (rhabdomyomas) 1. They are divided into three groups (co-existing with TSC, sporadic and accompanying congenital anomalies of the heart 2) and usually diagnosed 494
during the second trimester (the earliest diagnosis was established in 20th Hbd, however usually they are found at about 32nd week of gestation 3,4). Most prenatally diagnosed cardiac tumours are benign and regress during the third trimester, however some of them enlarge, cause circulatory insufficiency and require surgery 5. Total or partial regression of the tumours after birth is described in 60-100% of cases, and in 54% they regress during the five year follow-up 6,7. The probability of TSC rises with the number of heart tumours. In case of one lesion it is 30%, if there are two or more cardiac rhabdomyomas, the probability of TSC is 80% 3,4,8. Tworetzky et Al confirmed TSC in 95% of children with multiple heart lesions and only in 23% of those with a single lesion 9. Sonigo et Al found intracardiac rhabdomyomas only in 50% of patients with TSC on sonographic examinations performed during the second trimester of pregnancy 10.
E. Jurkiewicz
A
Brain MRI in Fetuses with Cardiac Tumours
B C
Figure 1 Prenatal MRI in case no. 1. Axial plane. A) SSFSE/ T2WI. Cortical tuber in the right hemisphere. B) The tuber is hyperintense on FGRE/T1WI. C) SSFSE/T2WI. SENs in frontal horns of the lateral ventricles.
Since it is very difficult to predict whether a patient with a heart lesion will develop TSC or not, it is necessary to perform additional examinations that might help in prenatal diagnosis of the disease. Even if a single cardiac tumour is found on US, fetal brain MRI should be performed 4,8. In this paper we present MR imaging of subependymal nodules (SENs) and cortical tubers in fetal brains in cases of abnormal heart US.
Materials and Method Seven pregnant women (30th-35th week of gestation) were referred to the MRI unit because of intracardiac tumours found on sonographic examination. US was performed using two US units: Sequoia 512 with convex probe 6C2 and Voluson-Expert 730 with volumetric probe 4-8P. Prenatal MRI examinations were performed with a 1.5T scanner (GE Signa) and 495
Brain MRI in Fetuses with Cardiac Tumours
E. Jurkiewicz
A
B
Figure 2 MRI of the first child, performed at the age of 18 months. SE/T1WI. SENs and cortical tubers. A) Axial plane. B) Coronal plane.
A
B
Figure 3 Prenatal MRI in case no. 3. SSFSE/T2WI. Subcortical nodules. A) Sagittal plane. B) Coronal plane.
496
www. centauro. it
The Neuroradiology Journal 20: 494-499, 2007
a torso-coil, using the Single Shot Fast Spin Echo sequence (SSFSE). T2-weighted images were acquired with the following parameters: TR = 4000 ms, TE = 140 ms, FOV = 44×44 cm, matrix = 384×320, slice thickness = 3 mm, interslice gap = 1 mm, time of acquisition = 76 s. The parameters of FGRE/T1-weighted images were as follows: TR = 5.1 ms, TE = 2.1 ms, TI = 2000, FOV = 48×36 cm, matrix = 256×224, slice thickness = 6 mm, interslice gap = 0.6 mm. The patients were examined in the supine position. No maternal (or fetal) sedation was used. Images of fetal brains were acquired in axial, sagittal and coronal planes. On demand of clinicians postnatal cerebral MRI was performed in two cases using a 1.5T scanner (Magnetom Sonata, Siemens) with an eight-channel head array coil. The basic im-
aging protocol included axial images: SE T1weighted images (488/10/1-2 [TR/TE/excitations]), TSE T2-weighted images (3920/102/1), FLAIR (2500/9000/111/1) [IR-inversion time/ TR/TE/excitations], tir (350/7840/67 [TI/TR/ TE]); coronal and sagittal T1WI and T2WI images. Matrix size was 256×256 and 256×192, FOV 160-230 mm, section thickness 4-5 mm, intersection gap 1 mm. Results Cardiac tumours were diagnosed in all patients on sonographic examination. No abnormalities were shown in fetal brains by means of sonography. The results of fetal brain MRI are shown in table I.
Table 1
Patient no.
Gestational age
Prenatal MRI findings
Postnatal MRI
1
34
1 cortical tuber, SENs
18 months: numerous cortical tubers, a few SENs
2
34
SENs
3
32
SENs
4
30
No abnormalities
–
5
33
No abnormalities
–
6
33
SENs
–
7
35
SENs
–
Figure 1 A,B illustrate prenatal MRI in case 1. Figure 2 A,B postnatal images of the same child. Case no. 3 is shown in figure 3 A-C – antenatally, and figure 4 A,B – after birth. Discussion The diagnosis of tuberous sclerosis complex (TSC) is based on the criteria established during Tuberous Sclerosis Complex Consensus Conference (TSCCC) in 1998. Most of these signs however cannot be revealed antenatally. The proposed diagnostic algorithm consists of two methods allowing for prenatal diagnosis of two major (according to TSCCC) criteria of the disease: cardiac tumours by means of sonogra-
– 6 weeks: multiple cortical tubers and SENs
phy and brain lesions (SENs and/or cortical tubers) by means of MRI. Cardiac tumours are the earliest symptom of TSC revealed on ultrasound prenatally, and 50-80% of patients with cardiac rhabdomyoma are believed to develop the symptoms of TSC 11 . Tumour formation is usually biphasic with a period of fast growth up to the 32nd week of gestation and slow regression during the first years of life. Other features of TSC (brain tumours, tumours/cysts of the kidneys or calcifications) are very rarely found in fetuses on US. Sonographic detection of cardiac tumour(s) is an indication to perform MRI in order to depict brain lesions that would confirm the diagnosis of TSC 1,4,7,8,12. MRI allows visualisation of 497
Brain MRI in Fetuses with Cardiac Tumours
A
E. Jurkiewicz
B
Figure 4 Postnatal MRI in case no. 3, performed at the age of 6 weeks. Axial plane. Multiple SENs and cortical tubers. A) FLAIR. B) SE/T1WI. Contrast enhancement of a SEN in the left frontal horn.
brain tumours that cannot be demonstrated on fetal US. To avoid artifacts it is necessary to confirm the presence of the lesions in at least two planes and to visualise deformation of the lateral ventricle walls. Subependymal nodules (SENs), cortical tubers and subependymal giant-cell astrocytomas (SEGA) are typical of TSC 3 . Their detection in the 21st and 28th week of gestation by means of MRI has been described in the literature 4,10,13. Bonnamy et Al presented the results of US and MRI performed in 35th week of gestation. None of the cerebral lesions depicted by MRI were seen on US 8. In our material sonography also failed to detect any cerebral tumours while on MRI they were found in five out of seven fetuses (71.4%). In a recent study by Mühler et Al 15, similar material was analysed (six fetuses with cardiac rhabdomyomas vs. seven in our case), but cerebral lesions were demonstrated on MRI in two out of six cases (33.3% vs. 71.4% in our material). One has to bear in mind, however, that a lack of brain lesions on MRI in a fetus with cardiac tumour(s) does nor rule out TSC, because some patients do not develop cerebral tumours or these lesions appear much later in their lives. 498
In our material SENs were demonstrated only on T2-weighted images. Only a cortical tuber in case 1 was visualised on T1-weighted images as a high-intensity focus (figure 1 B). This is most likely due to slice thickness which is twice as large in T1WI as in T2WI. Thinner T1- sections resulted in very poor quality. The definite diagnosis of SENs in an analysed group was established on the basis of hypointense lesions along the walls of the lateral ventricles, demonstrated in two planes (figure 1 A,B). Since intracardiac tumours may regress before the end of the third trimester, it is difficult to predict whether a fetus with a rhabdomyoma would develop symptoms of TSC or not. The probability is significantly higher if there are multiple rhabdomyomas 5,9,14. Brain lesions are more frequent than cardiac tumours and MR imaging – as an adjunct to US – improves prenatal diagnosis of TSC thanks to its higher resolution, sensitivity and tissue specificity compared to US. The short time of data acquisition allows examination without maternal and fetal sedation. Assessment of fetal central nervous system by means of MRI is the most accurate, diagnosis and prognosis in cases of TSC can be established which is important because up to
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90% of patients with TSC suffer from epilepsy and mental retardation. Conclusions 1. Multiple cardiac tumours are an important marker of TSC and can be detected on sonographic examination of the fetus, but they
The Neuroradiology Journal 20: 494-499, 2007
are only one major criterion of TSC diagnosis. 2. Fetal cerebral magnetic resonance imaging is the method of choice in detection of other major criteria of TSC: subependymal nodules and cortical tubers. 3. Antenatal diagnosis of TSC shortens the diagnostic process after birth and enables prediction of developmental abnormalities in affected children.
References 1 Girard N: Fetal MR imaging. Eur Radiol 12: 18691871, 2001. 2 Bussani R, Rustico MA, Silvestri F: Fetal cardiac rhabdomyomatosis as a prenatal marker for detection of latent tuberous sclerosis. An autopsy case report. Pathol Res Pract 197: 559-561, 2001. 3 Hengstschlager M: Fetal magnetic resonance imaging and human genetics. Eur Radiol 57: 312-315, 2002. 4 Levine D, Barnes P, Edelman R: Tuberous sclerosis in the fetus: second-trimester diagnosis of subependymal tubers with ultrafast MR imaging. Am J Radiol 175: 1067-1069, 2000. 5 Bader RS, Chitayat D, Kelly E et Al: Fetal rhabdomyoma: prenatal diagnosis, clinical outcome, and incidence of associated tuberous sclerosis complex. J Pediatr 143: 620-624, 2003. 6 Beghetti M, Gow RM, Haney I et Al: Pediatric primary benign cardiac tumors: a 15-year review. Am Heart J 134: 1107-1114, 1997. 7 Kivelitz DE, Muhler M, Rake A et Al: MRI of cardiac rhabdomyoma in the fetus. Eur Radiol 14: 1513-1516, 2004. 8 Bonnamy L, Perrotin F, Megier P et Al: Fetal intracardiac tumor(s): prenatal diagnosis and management. Three case reports. Eur J Obstet Gynecol Reprod Biol 99: 112-117, 2001. 9 Tworetzky W, McElhinney DB, Margossian R et Al: Association between cardiac tumors and tuberous sclerosis in the fetus and neonate. Am. J Cardiol 92: 487-489, 2007. 10 Sonigo P, Elmaleh A, Fermont L et Al: Prenatal MRI of fetal cerebral tuberous sclerosis. Pediatr Radiol 26: 1-4, 1996. 11 Elderkin RA, Radford DJ: Primary cardiac tumors in a pediatric population. J Paediatr Child Health 38: 173177, 2002.
12 Kaczorowska M, Kasprzyk-Obara J, Doman´ska-Pakieła D et Al: Multiple intracardiac tumours in a fetus as a first sign of tuberous sclerosis – a report of three cases. Pediatr Pol 79: 470-474, 2004. 13 Sharp D, Robertson DM: Tuberous Sclerosis in one infant of 28 weeks’ gestational age. Can. J Neurol Sci 10: 59-62, 1983. 14 Gamzu R, Achiron R., Hegesh J. et Al: Evaluation the risk of tuberous sclerosis in cases with prenatal diagnosis of cardiac rhabdomyoma. Prenat Diagn 22: 10441047, 2002. 15 Mühler MR, Rake A, Schwabe M et Al: Value of fetal cerebral MRI in sonographically proven cardiac rhabdomyoma. Pediatr Radiol 37: 467-474, 2007.
Mrs. Monika Bekiesin´ska-Figatowska, MD, PhD, DSc Head of Department of Diagnostic Imaging Department of Diagnostic Imaging Institute of Mother and Child Kasprzaka 17a -1-211 Warsaw Poland Tel.: (48)(22)3277156 E-mail: [email protected]
499
www. centauro. it
Brain MRI in Fetuses with Cardiac Tumours E. JURKIEWICZ*, M. BEKIESIŃSKA-FIGATOWSKA**, A. ROMANIUK-DOROSZEWSKA**, J. DANGEL*** * MRI Unit, Children’s Memorial Health Institute; ** Depatment of Diagnostic Imaging, Institute of Mother and Child; *** II Department of Gynecology and Obstetrics, Medical Academy; Warsaw, Poland
Key words: magnetic resonance imaging (MRI), ultrasound (US), tuberous sclerosis complex (TSC), prenatal diagnosis
SUMMARY – Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder which affects the skin, brain, heart and other organs. It is caused by mutations of two genes: TSC1 (on chromosome 9q34) or TSC2 (on 16p13.3). 70% of cases are sporadic with new mutations. This study aimed to highlight the utility of prenatal MRI as an adjunct imaging modality in the diagnosis and prognosis of tuberous sclerosis complex. Prenatal ultrasound and magnetic resonance imaging were performed in seven fetuses at a gestational age of 30, 32, 34 and 35 weeks using a 1.5 T MRI scanner. SSFSE,T2- and FGRE/T1-weighted images were obtained in axial, coronal and sagittal planes. Postnatal MRI was performed in two cases. Intracardiac tumors (rhabdomyomas) were revealed on ultrasound in all fetuses. On sonographic examination the brain tissue appeared normal in all cases. Brain MRI revealed focal low-signal-intensity lesions, localized along the walls of the lateral ventricles of five fetuses. Another hypointense lesion was seen at the grey/white matter junction in one case. Brain MRI of two fetuses was normal. The diagnosis of TSC was established in five cases. Postnatal MRI in two cases confirmed prenatal findings. MRI allows more complete evaluation of the fetus and helps to determine the diagnosis and prognosis in cases of TSC. The use of prenatal MR imaging in addition to prenatal sonography has the potential to improve genetic counseling and prenatal diagnosis of patients with tuberous sclerosis.
Introduction Tuberous sclerosis complex (TSC) is a genetic disease with an autosomal dominant mode of inheritance and an incidence of 1:10 000. Mutations of two genes have been identified as the cause of the disease: TSC1 on chromosome 9 (9q34) and TSC2 on chromosome 16 (16p13). In 60-70% of cases new mutations are found and the familial character of TSC cannot be confirmed. TSC is a multisystem disorder affecting the skin, brain, heart, kidneys and other organs. The classic symptoms include adenoma sebaceum, epilepsy (seizures in 60-80% of cases) and mental retardation. The list of diagnostic criteria was modified by the Tuberous Sclerosis Complex Consensus Conference in 1998. Prenatal sonography allows visualisation of fetal cardiac tumours (rhabdomyomas) 1. They are divided into three groups (co-existing with TSC, sporadic and accompanying congenital anomalies of the heart 2) and usually diagnosed 494
during the second trimester (the earliest diagnosis was established in 20th Hbd, however usually they are found at about 32nd week of gestation 3,4). Most prenatally diagnosed cardiac tumours are benign and regress during the third trimester, however some of them enlarge, cause circulatory insufficiency and require surgery 5. Total or partial regression of the tumours after birth is described in 60-100% of cases, and in 54% they regress during the five year follow-up 6,7. The probability of TSC rises with the number of heart tumours. In case of one lesion it is 30%, if there are two or more cardiac rhabdomyomas, the probability of TSC is 80% 3,4,8. Tworetzky et Al confirmed TSC in 95% of children with multiple heart lesions and only in 23% of those with a single lesion 9. Sonigo et Al found intracardiac rhabdomyomas only in 50% of patients with TSC on sonographic examinations performed during the second trimester of pregnancy 10.
E. Jurkiewicz
A
Brain MRI in Fetuses with Cardiac Tumours
B C
Figure 1 Prenatal MRI in case no. 1. Axial plane. A) SSFSE/ T2WI. Cortical tuber in the right hemisphere. B) The tuber is hyperintense on FGRE/T1WI. C) SSFSE/T2WI. SENs in frontal horns of the lateral ventricles.
Since it is very difficult to predict whether a patient with a heart lesion will develop TSC or not, it is necessary to perform additional examinations that might help in prenatal diagnosis of the disease. Even if a single cardiac tumour is found on US, fetal brain MRI should be performed 4,8. In this paper we present MR imaging of subependymal nodules (SENs) and cortical tubers in fetal brains in cases of abnormal heart US.
Materials and Method Seven pregnant women (30th-35th week of gestation) were referred to the MRI unit because of intracardiac tumours found on sonographic examination. US was performed using two US units: Sequoia 512 with convex probe 6C2 and Voluson-Expert 730 with volumetric probe 4-8P. Prenatal MRI examinations were performed with a 1.5T scanner (GE Signa) and 495
Brain MRI in Fetuses with Cardiac Tumours
E. Jurkiewicz
A
B
Figure 2 MRI of the first child, performed at the age of 18 months. SE/T1WI. SENs and cortical tubers. A) Axial plane. B) Coronal plane.
A
B
Figure 3 Prenatal MRI in case no. 3. SSFSE/T2WI. Subcortical nodules. A) Sagittal plane. B) Coronal plane.
496
www. centauro. it
The Neuroradiology Journal 20: 494-499, 2007
a torso-coil, using the Single Shot Fast Spin Echo sequence (SSFSE). T2-weighted images were acquired with the following parameters: TR = 4000 ms, TE = 140 ms, FOV = 44×44 cm, matrix = 384×320, slice thickness = 3 mm, interslice gap = 1 mm, time of acquisition = 76 s. The parameters of FGRE/T1-weighted images were as follows: TR = 5.1 ms, TE = 2.1 ms, TI = 2000, FOV = 48×36 cm, matrix = 256×224, slice thickness = 6 mm, interslice gap = 0.6 mm. The patients were examined in the supine position. No maternal (or fetal) sedation was used. Images of fetal brains were acquired in axial, sagittal and coronal planes. On demand of clinicians postnatal cerebral MRI was performed in two cases using a 1.5T scanner (Magnetom Sonata, Siemens) with an eight-channel head array coil. The basic im-
aging protocol included axial images: SE T1weighted images (488/10/1-2 [TR/TE/excitations]), TSE T2-weighted images (3920/102/1), FLAIR (2500/9000/111/1) [IR-inversion time/ TR/TE/excitations], tir (350/7840/67 [TI/TR/ TE]); coronal and sagittal T1WI and T2WI images. Matrix size was 256×256 and 256×192, FOV 160-230 mm, section thickness 4-5 mm, intersection gap 1 mm. Results Cardiac tumours were diagnosed in all patients on sonographic examination. No abnormalities were shown in fetal brains by means of sonography. The results of fetal brain MRI are shown in table I.
Table 1
Patient no.
Gestational age
Prenatal MRI findings
Postnatal MRI
1
34
1 cortical tuber, SENs
18 months: numerous cortical tubers, a few SENs
2
34
SENs
3
32
SENs
4
30
No abnormalities
–
5
33
No abnormalities
–
6
33
SENs
–
7
35
SENs
–
Figure 1 A,B illustrate prenatal MRI in case 1. Figure 2 A,B postnatal images of the same child. Case no. 3 is shown in figure 3 A-C – antenatally, and figure 4 A,B – after birth. Discussion The diagnosis of tuberous sclerosis complex (TSC) is based on the criteria established during Tuberous Sclerosis Complex Consensus Conference (TSCCC) in 1998. Most of these signs however cannot be revealed antenatally. The proposed diagnostic algorithm consists of two methods allowing for prenatal diagnosis of two major (according to TSCCC) criteria of the disease: cardiac tumours by means of sonogra-
– 6 weeks: multiple cortical tubers and SENs
phy and brain lesions (SENs and/or cortical tubers) by means of MRI. Cardiac tumours are the earliest symptom of TSC revealed on ultrasound prenatally, and 50-80% of patients with cardiac rhabdomyoma are believed to develop the symptoms of TSC 11 . Tumour formation is usually biphasic with a period of fast growth up to the 32nd week of gestation and slow regression during the first years of life. Other features of TSC (brain tumours, tumours/cysts of the kidneys or calcifications) are very rarely found in fetuses on US. Sonographic detection of cardiac tumour(s) is an indication to perform MRI in order to depict brain lesions that would confirm the diagnosis of TSC 1,4,7,8,12. MRI allows visualisation of 497
Brain MRI in Fetuses with Cardiac Tumours
A
E. Jurkiewicz
B
Figure 4 Postnatal MRI in case no. 3, performed at the age of 6 weeks. Axial plane. Multiple SENs and cortical tubers. A) FLAIR. B) SE/T1WI. Contrast enhancement of a SEN in the left frontal horn.
brain tumours that cannot be demonstrated on fetal US. To avoid artifacts it is necessary to confirm the presence of the lesions in at least two planes and to visualise deformation of the lateral ventricle walls. Subependymal nodules (SENs), cortical tubers and subependymal giant-cell astrocytomas (SEGA) are typical of TSC 3 . Their detection in the 21st and 28th week of gestation by means of MRI has been described in the literature 4,10,13. Bonnamy et Al presented the results of US and MRI performed in 35th week of gestation. None of the cerebral lesions depicted by MRI were seen on US 8. In our material sonography also failed to detect any cerebral tumours while on MRI they were found in five out of seven fetuses (71.4%). In a recent study by Mühler et Al 15, similar material was analysed (six fetuses with cardiac rhabdomyomas vs. seven in our case), but cerebral lesions were demonstrated on MRI in two out of six cases (33.3% vs. 71.4% in our material). One has to bear in mind, however, that a lack of brain lesions on MRI in a fetus with cardiac tumour(s) does nor rule out TSC, because some patients do not develop cerebral tumours or these lesions appear much later in their lives. 498
In our material SENs were demonstrated only on T2-weighted images. Only a cortical tuber in case 1 was visualised on T1-weighted images as a high-intensity focus (figure 1 B). This is most likely due to slice thickness which is twice as large in T1WI as in T2WI. Thinner T1- sections resulted in very poor quality. The definite diagnosis of SENs in an analysed group was established on the basis of hypointense lesions along the walls of the lateral ventricles, demonstrated in two planes (figure 1 A,B). Since intracardiac tumours may regress before the end of the third trimester, it is difficult to predict whether a fetus with a rhabdomyoma would develop symptoms of TSC or not. The probability is significantly higher if there are multiple rhabdomyomas 5,9,14. Brain lesions are more frequent than cardiac tumours and MR imaging – as an adjunct to US – improves prenatal diagnosis of TSC thanks to its higher resolution, sensitivity and tissue specificity compared to US. The short time of data acquisition allows examination without maternal and fetal sedation. Assessment of fetal central nervous system by means of MRI is the most accurate, diagnosis and prognosis in cases of TSC can be established which is important because up to
www. centauro. it
90% of patients with TSC suffer from epilepsy and mental retardation. Conclusions 1. Multiple cardiac tumours are an important marker of TSC and can be detected on sonographic examination of the fetus, but they
The Neuroradiology Journal 20: 494-499, 2007
are only one major criterion of TSC diagnosis. 2. Fetal cerebral magnetic resonance imaging is the method of choice in detection of other major criteria of TSC: subependymal nodules and cortical tubers. 3. Antenatal diagnosis of TSC shortens the diagnostic process after birth and enables prediction of developmental abnormalities in affected children.
References 1 Girard N: Fetal MR imaging. Eur Radiol 12: 18691871, 2001. 2 Bussani R, Rustico MA, Silvestri F: Fetal cardiac rhabdomyomatosis as a prenatal marker for detection of latent tuberous sclerosis. An autopsy case report. Pathol Res Pract 197: 559-561, 2001. 3 Hengstschlager M: Fetal magnetic resonance imaging and human genetics. Eur Radiol 57: 312-315, 2002. 4 Levine D, Barnes P, Edelman R: Tuberous sclerosis in the fetus: second-trimester diagnosis of subependymal tubers with ultrafast MR imaging. Am J Radiol 175: 1067-1069, 2000. 5 Bader RS, Chitayat D, Kelly E et Al: Fetal rhabdomyoma: prenatal diagnosis, clinical outcome, and incidence of associated tuberous sclerosis complex. J Pediatr 143: 620-624, 2003. 6 Beghetti M, Gow RM, Haney I et Al: Pediatric primary benign cardiac tumors: a 15-year review. Am Heart J 134: 1107-1114, 1997. 7 Kivelitz DE, Muhler M, Rake A et Al: MRI of cardiac rhabdomyoma in the fetus. Eur Radiol 14: 1513-1516, 2004. 8 Bonnamy L, Perrotin F, Megier P et Al: Fetal intracardiac tumor(s): prenatal diagnosis and management. Three case reports. Eur J Obstet Gynecol Reprod Biol 99: 112-117, 2001. 9 Tworetzky W, McElhinney DB, Margossian R et Al: Association between cardiac tumors and tuberous sclerosis in the fetus and neonate. Am. J Cardiol 92: 487-489, 2007. 10 Sonigo P, Elmaleh A, Fermont L et Al: Prenatal MRI of fetal cerebral tuberous sclerosis. Pediatr Radiol 26: 1-4, 1996. 11 Elderkin RA, Radford DJ: Primary cardiac tumors in a pediatric population. J Paediatr Child Health 38: 173177, 2002.
12 Kaczorowska M, Kasprzyk-Obara J, Doman´ska-Pakieła D et Al: Multiple intracardiac tumours in a fetus as a first sign of tuberous sclerosis – a report of three cases. Pediatr Pol 79: 470-474, 2004. 13 Sharp D, Robertson DM: Tuberous Sclerosis in one infant of 28 weeks’ gestational age. Can. J Neurol Sci 10: 59-62, 1983. 14 Gamzu R, Achiron R., Hegesh J. et Al: Evaluation the risk of tuberous sclerosis in cases with prenatal diagnosis of cardiac rhabdomyoma. Prenat Diagn 22: 10441047, 2002. 15 Mühler MR, Rake A, Schwabe M et Al: Value of fetal cerebral MRI in sonographically proven cardiac rhabdomyoma. Pediatr Radiol 37: 467-474, 2007.
Mrs. Monika Bekiesin´ska-Figatowska, MD, PhD, DSc Head of Department of Diagnostic Imaging Department of Diagnostic Imaging Institute of Mother and Child Kasprzaka 17a -1-211 Warsaw Poland Tel.: (48)(22)3277156 E-mail: [email protected]
499
