Abstract
ObjectiveWe describe the clinical and genetic characteristics of fetuses and infants diagnosed with tuberous sclerosis complex (TSC) in our centre, prenatally or neonatally, for a better understanding of the benefits of early screening.MethodsIn this retrospective study, we analysed the data on one fetus and nine infants with a definitive TSC diagnosis by genetic criteria (five patients carryingTSC1variants and 5 patients carryingTSC2variants). We explored the differences between phenotypes of patients carryingTSC1andTSC2pathogenic variants.ResultsThe most common initial presenting features of TSC were cardiac rhabdomyomas (CRs) that were observed in nine out of ten patients. The most common postnatal features, besides CR, were presented with subependymal nodules—in five patients, and hypomelanotic macules—in four patients. In total, 10 variants causing TSC were detected in this study, including 5 novel variants. We demonstrated that patients withTSC2variants had earlier onset and more severe clinical manifestations compared with patients carryingTSC1variants.ConclusionEarly diagnosis of TSC improves genetic counselling and perinatal management.
Funder
Ministry of Health of the Russian Federation
Subject
General Medicine,Pathology and Forensic Medicine