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Prenatal sonographic diagnosis of tuberous sclerosis complex.

Research paper by Ali A Gedikbasi, Kazim K Oztarhan, Volkan V Ulker, Gulseren G Aslan, Ahmet A Gul, Esra E Sener-Arslan, Yavuz Y Ceylan

Indexed on: 21 Jun '11Published on: 21 Jun '11Published in: Journal of Clinical Ultrasound



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.