Maternal and fetal tuberous sclerosis complex: a case report questioning clinical approach
Background. Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disease with multisystem involvement. Case. Here, a mother and infant couple was presented with maternal and fetal TSC including demonstrative clinical findings and genetic analysis. The interesting po...
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| Format: | Article |
| Language: | English |
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Hacettepe University Institute of Child Health
2020-04-01
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| Series: | The Turkish Journal of Pediatrics |
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| Online Access: | https://turkjpediatr.org/article/view/451 |
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| author | Özge Sürmeli Onay Adviye Çakıl Sağlık Pelin Köşger Zeynep Nurhan Saraçoğlu Uğur Toprak Birsen Uçar Ayşe Neslihan Tekin |
| author_facet | Özge Sürmeli Onay Adviye Çakıl Sağlık Pelin Köşger Zeynep Nurhan Saraçoğlu Uğur Toprak Birsen Uçar Ayşe Neslihan Tekin |
| author_sort | Özge Sürmeli Onay |
| collection | DOAJ |
| description |
Background. Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disease with multisystem involvement.
Case. Here, a mother and infant couple was presented with maternal and fetal TSC including demonstrative clinical findings and genetic analysis. The interesting point of this case report is that maternal and fetal TSC was identified after the mother gave birth to a child with a cardiac rhabdomyoma. The genetic analysis revealed a novel mutation which was the same in both the mother and her infant.
Conclusion. We would like to bring to the attention of clinicians this entity and to emphasize that maternal and fetal TSC can adversely affect maternal and fetal health, and deserves close follow up. Our recommendation is that if cardiac rhabdomyoma/cortical tuber/renal angiomyolipoma are present in prenatal ultrasonography, the parents should be evaluated for TSC.
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| format | Article |
| id | doaj-art-ffdcee71ec0f4d4ab72d52bfb039d1da |
| institution | DOAJ |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2020-04-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-ffdcee71ec0f4d4ab72d52bfb039d1da2025-08-20T03:00:51ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212020-04-0162210.24953/turkjped.2020.02.023Maternal and fetal tuberous sclerosis complex: a case report questioning clinical approachÖzge Sürmeli Onay0Adviye Çakıl Sağlık1Pelin Köşger2Zeynep Nurhan Saraçoğlu3Uğur ToprakBirsen Uçar4Ayşe Neslihan Tekin5Divisions of Neonatology, Eskisehir Osmangazi University, Faculty of Medicine, Eskisehir, Turkey.Divisions of Neonatology, Eskisehir Osmangazi University, Faculty of Medicine, Eskisehir, Turkey.Divisions of Pediatric Cardiology, Department of Pediatrics, Eskisehir Osmangazi University, Faculty of Medicine, Eskisehir, Turkey.Departments of Dermatology and Radiology, Eskisehir Osmangazi University, Faculty of Medicine, Eskisehir, Turkey.Divisions of Pediatric Cardiology, Department of Pediatrics, Eskisehir Osmangazi University, Faculty of Medicine, Eskisehir, Turkey.Divisions of Neonatology, Eskisehir Osmangazi University, Faculty of Medicine, Eskisehir, Turkey. Background. Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disease with multisystem involvement. Case. Here, a mother and infant couple was presented with maternal and fetal TSC including demonstrative clinical findings and genetic analysis. The interesting point of this case report is that maternal and fetal TSC was identified after the mother gave birth to a child with a cardiac rhabdomyoma. The genetic analysis revealed a novel mutation which was the same in both the mother and her infant. Conclusion. We would like to bring to the attention of clinicians this entity and to emphasize that maternal and fetal TSC can adversely affect maternal and fetal health, and deserves close follow up. Our recommendation is that if cardiac rhabdomyoma/cortical tuber/renal angiomyolipoma are present in prenatal ultrasonography, the parents should be evaluated for TSC. https://turkjpediatr.org/article/view/451fetalmaternalnewbornrhabdomyomatuberous sclerosis complex |
| spellingShingle | Özge Sürmeli Onay Adviye Çakıl Sağlık Pelin Köşger Zeynep Nurhan Saraçoğlu Uğur Toprak Birsen Uçar Ayşe Neslihan Tekin Maternal and fetal tuberous sclerosis complex: a case report questioning clinical approach The Turkish Journal of Pediatrics fetal maternal newborn rhabdomyoma tuberous sclerosis complex |
| title | Maternal and fetal tuberous sclerosis complex: a case report questioning clinical approach |
| title_full | Maternal and fetal tuberous sclerosis complex: a case report questioning clinical approach |
| title_fullStr | Maternal and fetal tuberous sclerosis complex: a case report questioning clinical approach |
| title_full_unstemmed | Maternal and fetal tuberous sclerosis complex: a case report questioning clinical approach |
| title_short | Maternal and fetal tuberous sclerosis complex: a case report questioning clinical approach |
| title_sort | maternal and fetal tuberous sclerosis complex a case report questioning clinical approach |
| topic | fetal maternal newborn rhabdomyoma tuberous sclerosis complex |
| url | https://turkjpediatr.org/article/view/451 |
| work_keys_str_mv | AT ozgesurmelionay maternalandfetaltuberoussclerosiscomplexacasereportquestioningclinicalapproach AT adviyecakılsaglık maternalandfetaltuberoussclerosiscomplexacasereportquestioningclinicalapproach AT pelinkosger maternalandfetaltuberoussclerosiscomplexacasereportquestioningclinicalapproach AT zeynepnurhansaracoglu maternalandfetaltuberoussclerosiscomplexacasereportquestioningclinicalapproach AT ugurtoprak maternalandfetaltuberoussclerosiscomplexacasereportquestioningclinicalapproach AT birsenucar maternalandfetaltuberoussclerosiscomplexacasereportquestioningclinicalapproach AT ayseneslihantekin maternalandfetaltuberoussclerosiscomplexacasereportquestioningclinicalapproach |