Maternal and fetal tuberous sclerosis complex: a case report questioning clinical approach

• Published in: Turkish journal of pediatrics Vol. 62; no. 2; pp. 332 - 337
• Main Authors: Onay, Özge Sürmeli, Sağlık, Adviye Çakıl, Köşger, Pelin, Saraçoğlu, Zeynep Nurhan, Toprak, Uğur, Uçar, Birsen, Tekin, Ayşe Neslihan
• Format: Journal Article
• Language: English
• Published: Turkey Hacettepe University Faculty of Medicine 01-03-2020
• Subjects: Case reports; Families & family life; Family medical history; Fetuses; Genetic counseling; Hemorrhage; Hypertension; Kidney diseases; Mortality; Mutation; Parents & parenting; Patients; Preeclampsia; Pregnancy; Tuberous sclerosis; Ultrasonic imaging; newborn; tuberous sclerosis complex; rhabdomyoma; fetal; maternal
• ISSN: 0041-4301; 2791-6421
• DOI: 10.24953/turkjped.2020.02.023

Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disease with multisystem involvement.
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.
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.