Literature DB >> 24299935

Brain MRI in fetuses with cardiac tumours.

E Jurkiewicz1, M Bekiesińska-Figatowska, A Romaniuk-Doroszewska, J Dangel.   

Abstract

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.

Entities:  

Year:  2007        PMID: 24299935     DOI: 10.1177/197140090702000503

Source DB:  PubMed          Journal:  Neuroradiol J        ISSN: 1971-4009


  3 in total

Review 1.  Prenatal MR Imaging Phenotype of Fetuses with Tuberous Sclerosis: An Institutional Case Series and Literature Review.

Authors:  S K Goergen; M C Fahey
Journal:  AJNR Am J Neuroradiol       Date:  2022-03-24       Impact factor: 3.825

2.  Early diagnosis of tuberous sclerosis complex: a race against time. How to make the diagnosis before seizures?

Authors:  Monika Słowińska; Sergiusz Jóźwiak; Angela Peron; Julita Borkowska; Dariusz Chmielewski; Krzysztof Sadowski; Elżbieta Jurkiewicz; Aglaia Vignoli; Francesca La Briola; Maria Paola Canevini; Katarzyna Kotulska-Jóźwiak
Journal:  Orphanet J Rare Dis       Date:  2018-01-29       Impact factor: 4.123

3.  Seventeen years of prenatal magnetic resonance imaging at the Institute of Mother and Child in Warsaw.

Authors:  Monika Bekiesińska-Figatowska; Anna Romaniuk-Doroszewska; Hanna Brągoszewska; Beata Iwanowska; Sylwia Szkudlińska-Pawlak; Jarosław Mądzik; Marek Duczkowski; Katarzyna Krupa; Astra Cabaj; Piotr Kwaśniewicz; Agnieszka Duczkowska
Journal:  Pol J Radiol       Date:  2018-02-24
  3 in total

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