Multimodal Imaging in the Prenatal Diagnosis of Tuberous Sclerosis Complex
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 i...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2012-01-01
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| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2012/925646 |
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| _version_ | 1832552907842519040 |
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| author | Mariya Gusman Sabah Servaes Tamara Feygin Karl Degenhardt Monica Epelman |
| author_facet | Mariya Gusman Sabah Servaes Tamara Feygin Karl Degenhardt Monica Epelman |
| author_sort | Mariya Gusman |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-4906accbe190473d979dc9469059fcae |
| institution | Kabale University |
| issn | 2090-6803 2090-6811 |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-4906accbe190473d979dc9469059fcae2025-02-03T05:57:32ZengWileyCase Reports in Pediatrics2090-68032090-68112012-01-01201210.1155/2012/925646925646Multimodal Imaging in the Prenatal Diagnosis of Tuberous Sclerosis ComplexMariya Gusman0Sabah Servaes1Tamara Feygin2Karl Degenhardt3Monica Epelman4School of Medicine, Drexel University, Philadelphia, PA 19129, USADivision of Radiology, The Children’s Hospital of Philadelphia, 34th and Civic Center boulevard, Philadelphia, PA 19104, USADivision of Radiology, The Children’s Hospital of Philadelphia, 34th and Civic Center boulevard, Philadelphia, PA 19104, USADivision of Cardiology, The Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USADivision of Radiology, The Children’s Hospital of Philadelphia, 34th and Civic Center boulevard, Philadelphia, PA 19104, USATuberous 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.http://dx.doi.org/10.1155/2012/925646 |
| spellingShingle | Mariya Gusman Sabah Servaes Tamara Feygin Karl Degenhardt Monica Epelman Multimodal Imaging in the Prenatal Diagnosis of Tuberous Sclerosis Complex Case Reports in Pediatrics |
| title | Multimodal Imaging in the Prenatal Diagnosis of Tuberous Sclerosis Complex |
| title_full | Multimodal Imaging in the Prenatal Diagnosis of Tuberous Sclerosis Complex |
| title_fullStr | Multimodal Imaging in the Prenatal Diagnosis of Tuberous Sclerosis Complex |
| title_full_unstemmed | Multimodal Imaging in the Prenatal Diagnosis of Tuberous Sclerosis Complex |
| title_short | Multimodal Imaging in the Prenatal Diagnosis of Tuberous Sclerosis Complex |
| title_sort | multimodal imaging in the prenatal diagnosis of tuberous sclerosis complex |
| url | http://dx.doi.org/10.1155/2012/925646 |
| work_keys_str_mv | AT mariyagusman multimodalimagingintheprenataldiagnosisoftuberoussclerosiscomplex AT sabahservaes multimodalimagingintheprenataldiagnosisoftuberoussclerosiscomplex AT tamarafeygin multimodalimagingintheprenataldiagnosisoftuberoussclerosiscomplex AT karldegenhardt multimodalimagingintheprenataldiagnosisoftuberoussclerosiscomplex AT monicaepelman multimodalimagingintheprenataldiagnosisoftuberoussclerosiscomplex |