title: Prenatal sonographic diagnosis of tuberous sclerosis complex.
abstract: We report the case of a male fetus with tuberous sclerosis complex (TSC), in whom multiple cardiac rhabdomyomas and renal angiomyolipomas were detected at 33 weeks by ultrasound with additional brain lesions detected on MRI, all confirmed after birth. DNA analysis of the TSC2 gene detected a de novo mutation in the TSC2 gene. Postnatal follow-up and neurological examination were normal, as were the results of Holter monitoring.
authors.affiliation: Istanbul Bakirkoy Maternity and Children Diseases Hospital, Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Istanbul, Turkey.
authors.forename: Ali
authors.initials: A
authors.lastname: Gedikbasi
authors.forename: Kazim
authors.initials: K
authors.lastname: Oztarhan
authors.forename: Volkan
authors.initials: V
authors.lastname: Ulker
authors.forename: Gulseren
authors.initials: G
authors.lastname: Aslan
authors.forename: Ahmet
authors.initials: A
authors.lastname: Gul
authors.forename: Esra
authors.initials: E
authors.lastname: Sener-Arslan
authors.forename: Yavuz
authors.initials: Y
authors.lastname: Ceylan
mesh_terms: D018206:Angiolipoma / Q000175:diagnosis / Q000000981:diagnostic imaging; D005260:Female; D005500:Follow-Up Studies; D005865:Gestational Age; D006338:Heart Neoplasms / Q000175:diagnosis / Q000000981:diagnostic imaging; D006801:Humans; D007231:Infant, Newborn; D007680:Kidney Neoplasms / Q000175:diagnosis / Q000000981:diagnostic imaging; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008991:Monitoring, Physiologic / Q000379:methods; D011247:Pregnancy; D011256:Pregnancy Outcome; D011296:Prenatal Diagnosis / Q000379:methods; D012207:Rhabdomyoma / Q000175:diagnosis / Q000000981:diagnostic imaging; D014402:Tuberous Sclerosis / Q000175:diagnosis / Q000000981:diagnostic imaging* / Q000235:genetics; D016216:Ultrasonography, Prenatal / Q000379:methods*