TSC1 mutation in neonatal tuberous sclerosis: A case report

Abstract

A 32-year old woman, gravida 1 para 0, was referred to Seoul St. Mary’s Hospital for fetal cardiac mass by ultrasound at 38 weeks of gestation from a local obstetric office. Detailed fetal echocardiogram was performed and the presence of multiple cardiac tumors was observed, suggesting rhabdomyoma. After birth, fetal echocardiography and genetic screening were performed. A targeted Sanger sequencing analysis was performed for TSC1 and TSC2 genes. Molecular analyses revealed a heterozygous gene variant with a novel frame shift mutation in TSC1, confirming the diagnosis of Tuberous Sclerosis (TSC). A segregation study of the causal mutation was performed by Sanger sequencing for both parents, revealing no mutation in either parent. Thus, the novel frameshift mutation occurred de novo. For fetuses with suspected cardiac rhabdomyoma identified by ultrasound, perinatal genetic testing for TSC should be performed for both the fetus and family members for early detection, early diagnosis, and better prognosis. Early diagnosis of TSC can provide greater opportunities for infants to obtain timely neonatal treatment and better outcome.