- About this Journal
- Abstracting and Indexing
- Aims and Scope
- Article Processing Charges
- Articles in Press
- Author Guidelines
- Bibliographic Information
- Citations to this Journal
- Contact Information
- Editorial Board
- Editorial Workflow
- Free eTOC Alerts
- Publication Ethics
- Submit a Manuscript
- Table of Contents
Case Reports in Pediatrics
Volume 2012 (2012), Article ID 925646, 3 pages
doi:10.1155/2012/925646
Multimodal Imaging in the Prenatal Diagnosis of Tuberous Sclerosis Complex
1School of Medicine, Drexel University, Philadelphia, PA 19129, USA
2Division of Radiology, The Children’s Hospital of Philadelphia, 34th and Civic Center boulevard, Philadelphia, PA 19104, USA
3Division of Cardiology, The Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA
Received 29 June 2012; Accepted 4 September 2012
Academic Editors: N. L. Shapiro, E. Veneselli, and V. C. Wong
Copyright © 2012 Mariya Gusman et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Abstract
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder in which benign hamartomas develop in multiple organ systems. Increasingly, stigmata of the disease, such as cardiac rhabdomyomas, are detected on routine prenatal ultrasound. Such a finding should prompt additional imaging studies in order to confirm diagnosis and to identify potential complications, which vary greatly from patient to patient. Early diagnosis allows for accurate parental counseling, coordination of high-level perinatal care, and subspecialty followup. We present a case of TSC in utero wherein access to and use of multiple imaging modalities confirmed diagnosis and allowed the patient to receive optimal care prior to birth.