Value of Fetal Cerebral MRI in Sonographically Proven Cardiac Rhabdomyoma

Overview

Journal Pediatr Radiol

Specialty Pediatrics

Date 2007 Mar 16

PMID 17357805

Citations 12

Authors

Matthias R Muhler

Annett Rake

Michael Schwabe

Susanne Schmidt

Dietmar Kivelitz

Rabih Chaoui

Bernd Hamm

Affiliations

Soon will be listed here.

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.

Citing Articles

Utility of Fetal Cardiac Resonance Imaging in Prenatal Clinical Practice: Current State of the Art.

Pozza A, Reffo E, Castaldi B, Cattapan I, Avesani M, Biffanti R Diagnostics (Basel). 2023; 13(23).

PMID: 38066764 PMC: 10706194. DOI: 10.3390/diagnostics13233523.

Early Diagnosis of Tuberous Sclerosis Complex: Prenatal Diagnosis.

Bekiesinska-Figatowska M, Sobieraj P, Pasieczna M, Szymkiewicz-Dangel J AJNR Am J Neuroradiol. 2023; 44(9):1070-1076.

PMID: 37536734 PMC: 10494953. DOI: 10.3174/ajnr.A7952.

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

Goergen S, Fahey M AJNR Am J Neuroradiol. 2022; 43(4):633-638.

PMID: 35332020 PMC: 8993194. DOI: 10.3174/ajnr.A7455.

A Multidisciplinary Approach in Prenatal Diagnosis of TSC With Cardiac Rhabdomyoma as the Initial Symptom.

Qi Y, Ding H, Huang Y, Zeng Y, Yu L, Liu L Front Pediatr. 2021; 9:628238.

PMID: 34513752 PMC: 8429840. DOI: 10.3389/fped.2021.628238.

The Neurodevelopmental Pathogenesis of Tuberous Sclerosis Complex (TSC).

Feliciano D Front Neuroanat. 2020; 14:39.

PMID: 32765227 PMC: 7381175. DOI: 10.3389/fnana.2020.00039.

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