The Turkish Journal of Pediatrics 2020 , Vol 62 , Num 2
Maternal and fetal tuberous sclerosis complex: a case report questioning clinical approach
Özge Sürmeli Onay 1 ,Adviye Çakıl Sağlık 1 ,Pelin Köşger 2 ,Zeynep Nurhan Saraçoğlu 3 ,Uğur Toprak 4 ,Birsen Uçar 2 ,Ayşe Neslihan Tekin 1
1 Divisions of Neonatology, Eskisehir Osmangazi University, Faculty of Medicine, Eskisehir, Turkey
2 Divisions of Pediatric Cardiology, Department of Pediatrics, Eskisehir Osmangazi University, Faculty of Medicine, Eskisehir, Turkey
3 Departments of Dermatology and Radiology, Eskisehir Osmangazi University, Faculty of Medicine, Eskisehir, Turkey
DOI : 10.24953/turkjped.2020.02.023 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. Keywords : maternal, fetal, tuberous sclerosis complex, rhabdomyoma, newborn

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