Literature DB >> 21688274

Prenatal sonographic diagnosis of tuberous sclerosis complex.

Ali Gedikbasi1, Kazim Oztarhan, Volkan Ulker, Gulseren Aslan, Ahmet Gul, Esra Sener-Arslan, Yavuz Ceylan.   

Abstract

We report the case of a male fetus with tuberous sclerosis complex (TSC), in whom multiple cardiac rhabdomyomas and renal angiomyolipomas were detected at 33 weeks by ultrasound with additional brain lesions detected on MRI, all confirmed after birth. DNA analysis of the TSC2 gene detected a de novo mutation in the TSC2 gene. Postnatal follow-up and neurological examination were normal, as were the results of Holter monitoring.
Copyright © 2011 Wiley Periodicals, Inc.

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Year:  2011        PMID: 21688274     DOI: 10.1002/jcu.20857

Source DB:  PubMed          Journal:  J Clin Ultrasound        ISSN: 0091-2751            Impact factor:   0.910


  5 in total

1.  Prenatal and Postnatal Diagnosis of Rhabdomyomas and Tuberous Sclerosis Complex by Ultrafast and Standard MRI.

Authors:  Ying Zhou; Su-Zhen Dong; Yu-Min Zhong; Ai-Min Sun
Journal:  Indian J Pediatr       Date:  2018-01-09       Impact factor: 1.967

Review 2.  Imaging of solid congenital abdominal masses: a review of the literature and practical approach to image interpretation.

Authors:  Krista L Birkemeier
Journal:  Pediatr Radiol       Date:  2020-11-30

3.  Multiple cardiac rhabdomyomas, prenatal diagnosis. Case report

Authors:  Tania Carrillo-Lima; Sandra L Pacheco-López; Paola L Castro-Santiago; Luis F Oseguera-Torres
Journal:  Arch Cardiol Mex       Date:  2022-01-03

4.  Multimodal imaging in the prenatal diagnosis of tuberous sclerosis complex.

Authors:  Mariya Gusman; Sabah Servaes; Tamara Feygin; Karl Degenhardt; Monica Epelman
Journal:  Case Rep Pediatr       Date:  2012-10-02

5.  Combined targeted treatment in early onset epilepsy associated with tuberous sclerosis.

Authors:  Romina Moavero; Sara Marciano; Federica Graziola; Paolo Curatolo
Journal:  Epilepsy Behav Case Rep       Date:  2016-01-13
  5 in total

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