Value of fetal cerebral MRI in sonographically proven cardiac rhabdomyoma

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

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Veröffentlicht in:Pediatric radiology 2007-05, Vol.37 (5), p.467-474
Hauptverfasser: Mühler, Matthias R, Rake, Annett, Schwabe, Michael, Schmidt, Susanne, Kivelitz, Dietmar, Chaoui, Rabih, Hamm, Bernd
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container_end_page 474
container_issue 5
container_start_page 467
container_title Pediatric radiology
container_volume 37
creator Mühler, Matthias R
Rake, Annett
Schwabe, Michael
Schmidt, Susanne
Kivelitz, Dietmar
Chaoui, Rabih
Hamm, Bernd
description Tuberous sclerosis complex (TSC) is an autosomal dominant phakomatosis associated with intracardiac rhabdomyomas. 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. 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. 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. 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.
doi_str_mv 10.1007/s00247-007-0436-y
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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. 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. 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. 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. 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source MEDLINE; Springer Nature - Complete Springer Journals
subjects Brain - pathology
Child, Preschool
Female
Fetal Diseases - diagnosis
Fetal Diseases - diagnostic imaging
Follow-Up Studies
Heart Neoplasms - complications
Heart Neoplasms - diagnosis
Heart Neoplasms - diagnostic imaging
Humans
Infant
Magnetic Resonance Imaging - methods
Myocardium - pathology
Observer Variation
Predictive Value of Tests
Pregnancy
Prospective Studies
Rhabdomyoma - complications
Rhabdomyoma - diagnosis
Rhabdomyoma - diagnostic imaging
Tuberous Sclerosis - complications
Tuberous Sclerosis - diagnosis
Ultrasonography, Doppler
Ultrasonography, Prenatal
title Value of fetal cerebral MRI in sonographically proven cardiac rhabdomyoma
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