Prenatal Diagnosis of Cerebral Tubers by Magnetic Resonance Imaging Following Detection of Cardiac Rhabdomyomas by Prenatal Ultrasound in a Fetus With a Nonsense Mutation in the TSC2 gene

摘要

A 31-year-old, primigravid woman was referred to the hospital at 34 weeks of gestation because of fetal cardio-myopathy with ventricular hypertrophy. This was her first pregnancy. She and her husband were healthy, and there was no family history of tuberous sclerosis complex (TSC) or cardiac tumors. Level II prenatal ultrasound revealed multiple cardiac tumors with right and left ventricle flow obstructions (Fig. 1). Sonographic findings of the fetal brain were unremarkable. However, ultrafast magnetic resonance imaging of the fetal brain manifested multiple small subependymal tubers (Fig. 2). Fetal cord blood sampling revealed a karyotype of 46,XY and a heterozygous de novo nonsense mutation of the TSC2 gene or TSC2 c.1117C>TCAG>TAG (Gln>X) (Fig. 3).