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Prenatal sonographic diagnosis of tuberous sclerosis complex
Author(s) -
Gedikbasi Ali,
Oztarhan Kazim,
Ulker Volkan,
Aslan Gulseren,
Gul Ahmet,
SenerArslan Esra,
Ceylan Yavuz
Publication year - 2011
Publication title -
journal of clinical ultrasound
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.272
H-Index - 61
eISSN - 1097-0096
pISSN - 0091-2751
DOI - 10.1002/jcu.20857
Subject(s) - tuberous sclerosis , medicine , tsc2 , fetus , prenatal diagnosis , tsc1 , pathology , ultrasound , angiomyolipoma , radiology , pregnancy , kidney , apoptosis , pi3k/akt/mtor pathway , biology , genetics , biochemistry , chemistry
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. © 2011 Wiley Periodicals, Inc. J Clin Ultrasound, 2011;