Prenatal sonographic diagnosis of tuberous sclerosis complex
Ali Gedikbasi1, Kazim Oztarhan, Volkan Ulker
1Istanbul Bakirkoy Maternity and Children Diseases Hospital, Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Istanbul, Turkey.
Journal of Clinical Ultrasound : JCU
|June 21, 2011
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.
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