Prenatal diagnosis of tuberous sclerosis complex using fetal ultrasonography and magnetic resonance imaging and genetic testing

摘要

Tuberous sclerosis complex (TSC) was first described by von Recklinghausen in 1862 [1]. Tuberous sclerosis is also called TSC because of its diverse clinical manifestations. TSC is extremely variable and unpredictable in terms of disease phenotypes and clinical presentations. Its clinical features are a principal means of diagnosis [1]. TSC is an autosomal dominant disorder that can be associated with multiple major and minor disorders [2]. The estimated incidence of TSC is about 1 in 10,000 person/year with a prevalence between 1 in 6800–17,300 person/year [3]. Cardiac rhabdomyomas are associated with certain genetic disorders, particularly tuberous sclerosis, which account for two-thirds of cases of TSC. Fetal cardiac rhabdomyoma is the earliest clinical sign of tuberous sclerosis, which can be detected in the uterus. Mammalian target of rapamycin (mTOR) inhibitor therapy for TSC may be a treatment option. We describe a case of TSC and focus on the prenatal diagnosis and management of TSC.