TY  - JOUR
TI  - Maternal and fetal tuberous sclerosis complex: a case report
questioning clinical approach
AB  - 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.
AU  - SÜRMELI ONAY, OZGE
AU  - Ucar, Birsen
AU  - Kosger, Pelin
AU  - Saracoglu, Zeynep Nurhan
AU  - toprak, ugur
AU  - Çakıl Sağlık, Adviye
AU  - TEKIN, AYSE NESLIHAN
DO  - 10.24953/turkjped.2020.02.023
PY  - 2020
JO  - Turkish Journal of Pediatrics
VL  - 62
IS  - 2
SN  - 0041-4301
SP  - 332
EP  - 337
DB  - TRDizin
UR  - http://search/yayin/detay/518260
ER  -