Maternal and fetal tuberous sclerosis complex: a case report questioning clinical approach
Yıl: 2020 Cilt: 62 Sayı: 2 Sayfa Aralığı: 332 - 337 Metin Dili: İngilizce DOI: 10.24953/turkjped.2020.02.023 İndeks Tarihi: 14-06-2022
Maternal and fetal tuberous sclerosis complex: a case report questioning clinical approach
Öz: 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.
Anahtar Kelime: Belge Türü: Makale Makale Türü: Olgu Sunumu Erişim Türü: Erişime Açık
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APA | SÜRMELI ONAY O, Çakıl Sağlık A, Kosger P, Saracoglu Z, toprak u, Ucar B, TEKIN A (2020). Maternal and fetal tuberous sclerosis complex: a case report questioning clinical approach . , 332 - 337. 10.24953/turkjped.2020.02.023 |
Chicago | SÜRMELI ONAY OZGE,Çakıl Sağlık Adviye,Kosger Pelin,Saracoglu Zeynep Nurhan,toprak ugur,Ucar Birsen,TEKIN AYSE NESLIHAN Maternal and fetal tuberous sclerosis complex: a case report questioning clinical approach . (2020): 332 - 337. 10.24953/turkjped.2020.02.023 |
MLA | SÜRMELI ONAY OZGE,Çakıl Sağlık Adviye,Kosger Pelin,Saracoglu Zeynep Nurhan,toprak ugur,Ucar Birsen,TEKIN AYSE NESLIHAN Maternal and fetal tuberous sclerosis complex: a case report questioning clinical approach . , 2020, ss.332 - 337. 10.24953/turkjped.2020.02.023 |
AMA | SÜRMELI ONAY O,Çakıl Sağlık A,Kosger P,Saracoglu Z,toprak u,Ucar B,TEKIN A Maternal and fetal tuberous sclerosis complex: a case report questioning clinical approach . . 2020; 332 - 337. 10.24953/turkjped.2020.02.023 |
Vancouver | SÜRMELI ONAY O,Çakıl Sağlık A,Kosger P,Saracoglu Z,toprak u,Ucar B,TEKIN A Maternal and fetal tuberous sclerosis complex: a case report questioning clinical approach . . 2020; 332 - 337. 10.24953/turkjped.2020.02.023 |
IEEE | SÜRMELI ONAY O,Çakıl Sağlık A,Kosger P,Saracoglu Z,toprak u,Ucar B,TEKIN A "Maternal and fetal tuberous sclerosis complex: a case report questioning clinical approach ." , ss.332 - 337, 2020. 10.24953/turkjped.2020.02.023 |
ISNAD | SÜRMELI ONAY, OZGE vd. "Maternal and fetal tuberous sclerosis complex: a case report questioning clinical approach ". (2020), 332-337. https://doi.org/10.24953/turkjped.2020.02.023 |
APA | SÜRMELI ONAY O, Çakıl Sağlık A, Kosger P, Saracoglu Z, toprak u, Ucar B, TEKIN A (2020). Maternal and fetal tuberous sclerosis complex: a case report questioning clinical approach . Turkish Journal of Pediatrics, 62(2), 332 - 337. 10.24953/turkjped.2020.02.023 |
Chicago | SÜRMELI ONAY OZGE,Çakıl Sağlık Adviye,Kosger Pelin,Saracoglu Zeynep Nurhan,toprak ugur,Ucar Birsen,TEKIN AYSE NESLIHAN Maternal and fetal tuberous sclerosis complex: a case report questioning clinical approach . Turkish Journal of Pediatrics 62, no.2 (2020): 332 - 337. 10.24953/turkjped.2020.02.023 |
MLA | SÜRMELI ONAY OZGE,Çakıl Sağlık Adviye,Kosger Pelin,Saracoglu Zeynep Nurhan,toprak ugur,Ucar Birsen,TEKIN AYSE NESLIHAN Maternal and fetal tuberous sclerosis complex: a case report questioning clinical approach . Turkish Journal of Pediatrics, vol.62, no.2, 2020, ss.332 - 337. 10.24953/turkjped.2020.02.023 |
AMA | SÜRMELI ONAY O,Çakıl Sağlık A,Kosger P,Saracoglu Z,toprak u,Ucar B,TEKIN A Maternal and fetal tuberous sclerosis complex: a case report questioning clinical approach . Turkish Journal of Pediatrics. 2020; 62(2): 332 - 337. 10.24953/turkjped.2020.02.023 |
Vancouver | SÜRMELI ONAY O,Çakıl Sağlık A,Kosger P,Saracoglu Z,toprak u,Ucar B,TEKIN A Maternal and fetal tuberous sclerosis complex: a case report questioning clinical approach . Turkish Journal of Pediatrics. 2020; 62(2): 332 - 337. 10.24953/turkjped.2020.02.023 |
IEEE | SÜRMELI ONAY O,Çakıl Sağlık A,Kosger P,Saracoglu Z,toprak u,Ucar B,TEKIN A "Maternal and fetal tuberous sclerosis complex: a case report questioning clinical approach ." Turkish Journal of Pediatrics, 62, ss.332 - 337, 2020. 10.24953/turkjped.2020.02.023 |
ISNAD | SÜRMELI ONAY, OZGE vd. "Maternal and fetal tuberous sclerosis complex: a case report questioning clinical approach ". Turkish Journal of Pediatrics 62/2 (2020), 332-337. https://doi.org/10.24953/turkjped.2020.02.023 |