Prenatal Sonographic Diagnosis of Tuberous Sclerosis Complex
JOURNAL OF CLINICAL ULTRASOUND, cilt.39, sa.7, ss.427-430, 2011 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 39 Sayı: 7
- Basım Tarihi: 2011
- Doi Numarası: 10.1002/jcu.20857
- Dergi Adı: JOURNAL OF CLINICAL ULTRASOUND
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.427-430
- İstanbul Üniversitesi Adresli: Evet
Özet
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. (C) 2011 Wiley Periodicals, Inc. J Clin Ultrasound 39: 427-430, 2011; Published online in Wiley Online Library (wileyonlinelibrary.com) DOI: 10.1002/jcu.20857