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Obstetrics
Diagnosis
Syndromes and Multisystem Disorders
Tuberous Sclerosis
Tuberous Sclerosis
Karen Y. Oh, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Pathology

        • Clinical Issues

          • Diagnostic Checklist

            TERMINOLOGY

            • Abbreviations

              • Tuberous sclerosis (TS)

            • Synonyms

              • Bourneville disease
              • Tuberous sclerosis complex

            • Definitions

              • Genetic tumor disorder with multiorgan hamartomas
              • Included in spectrum of phakomatoses
              • Clinical triad: Facial angiofibromas, intellectual impairment, seizures

            IMAGING

            • General Features

              • Ultrasonographic Findings

                • MR Findings

                  DIFFERENTIAL DIAGNOSIS

                    PATHOLOGY

                    • General Features

                      CLINICAL ISSUES

                      • Presentation

                        • Demographics

                          • Natural History & Prognosis

                            • Treatment

                              DIAGNOSTIC CHECKLIST

                              • Consider

                                • Image Interpretation Pearls

                                  Selected References

                                  1. Sciacca P et al: Rhabdomyomas and tuberous sclerosis complex: our experience in 33 cases. BMC Cardiovasc Disord. 14:66, 2014
                                  2. Tyagi V et al: Fetal and Postnatal Magnetic Resonance Imaging of Unilateral Cystic Renal Dysplasia in a Neonate with Tuberous Sclerosis. Pediatr Neonatol. ePub, 2014
                                  3. Lee KA et al: Molecular genetic, cardiac and neurodevelopmental findings in cases of prenatally diagnosed rhabdomyoma associated with tuberous sclerosis complex. Ultrasound Obstet Gynecol. 41(3):306-11, 2013
                                  4. Prabowo AS et al: Fetal brain lesions in tuberous sclerosis complex: TORC1 activation and inflammation. Brain Pathol. 23(1):45-59, 2013
                                  5. Gedikbasi A et al: Prenatal sonographic diagnosis of tuberous sclerosis complex. J Clin Ultrasound. 39(7):427-30, 2011
                                  6. Chen CP et al: Prenatal diagnosis of rhabdomyomas and cerebral tuberous sclerosis by magnetic resonance imaging in one fetus of a dizygotic twin pregnancy associated with a frameshift mutation in the TSC2 gene. Taiwan J Obstet Gynecol. 49(3):387-9, 2010
                                  7. Isaacs H: Perinatal (fetal and neonatal) tuberous sclerosis: a review. Am J Perinatol. 26(10):755-60, 2009
                                  8. Milunsky A et al: Prenatal molecular diagnosis of tuberous sclerosis complex. Am J Obstet Gynecol. 200(3):321, 2009
                                  9. Chao AS et al: Outcome of antenatally diagnosed cardiac rhabdomyoma: case series and a meta-analysis. Ultrasound Obstet Gynecol. 31(3):289-95, 2008
                                  10. Gupta N et al: Fetal cardiac rhabdomyoma with maternal tuberous sclerosis complicating pregnancy. Arch Gynecol Obstet. 278(2):169-70, 2008
                                  11. Zhang YX et al: Cardiac rhabdomyoma and renal cyst in a fetus: early onset of tuberous sclerosis with renal cystic disease. J Ultrasound Med. 27(6):979-82, 2008
                                  12. King JA et al: Maternal and fetal tuberous sclerosis complicating pregnancy: a case report and overview of the literature. Am J Perinatol. 22(2):103-8, 2005
                                  13. Fesslova V et al: Natural history and long-term outcome of cardiac rhabdomyomas detected prenatally. Prenat Diagn. 24(4):241-8, 2004
                                  14. Smirniotopoulos JG: Neuroimaging of phakomatoses: Sturge-Weber syndrome, tuberous sclerosis, von Hippel-Lindau syndrome. Neuroimaging Clin N Am. 14(2):171-83, vii, 2004
                                  15. Bader RS et al: Fetal rhabdomyoma: prenatal diagnosis, clinical outcome, and incidence of associated tuberous sclerosis complex. J Pediatr. 143(5):620-4, 2003
                                  16. Bargallo N et al: Hereditary subependymal heterotopia associated with mega cisterna magna: antenatal diagnosis with magnetic resonance imaging. Ultrasound Obstet Gynecol. 20(1):86-9, 2002
                                  17. Gamzu R et al: Evaluating the risk of tuberous sclerosis in cases with prenatal diagnosis of cardiac rhabdomyoma. Prenat Diagn. 22(11):1044-7, 2002
                                  18. Mitchell LA et al: Antenatal diagnosis of subependymal heterotopia. AJNR Am J Neuroradiol. 21(2):296-300, 2000
                                  19. Sgro M et al: Prenatal detection of cerebral lesions in a fetus with tuberous sclerosis. Ultrasound Obstet Gynecol. 14(5):356-9, 1999
                                  Related Anatomy
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                                  Related Differential Diagnoses
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                                  References
                                  Tables

                                  Tables

                                  KEY FACTS

                                  • Terminology

                                    • Imaging

                                      • Pathology

                                        • Clinical Issues

                                          • Diagnostic Checklist

                                            TERMINOLOGY

                                            • Abbreviations

                                              • Tuberous sclerosis (TS)

                                            • Synonyms

                                              • Bourneville disease
                                              • Tuberous sclerosis complex

                                            • Definitions

                                              • Genetic tumor disorder with multiorgan hamartomas
                                              • Included in spectrum of phakomatoses
                                              • Clinical triad: Facial angiofibromas, intellectual impairment, seizures

                                            IMAGING

                                            • General Features

                                              • Ultrasonographic Findings

                                                • MR Findings

                                                  DIFFERENTIAL DIAGNOSIS

                                                    PATHOLOGY

                                                    • General Features

                                                      CLINICAL ISSUES

                                                      • Presentation

                                                        • Demographics

                                                          • Natural History & Prognosis

                                                            • Treatment

                                                              DIAGNOSTIC CHECKLIST

                                                              • Consider

                                                                • Image Interpretation Pearls

                                                                  Selected References

                                                                  1. Sciacca P et al: Rhabdomyomas and tuberous sclerosis complex: our experience in 33 cases. BMC Cardiovasc Disord. 14:66, 2014
                                                                  2. Tyagi V et al: Fetal and Postnatal Magnetic Resonance Imaging of Unilateral Cystic Renal Dysplasia in a Neonate with Tuberous Sclerosis. Pediatr Neonatol. ePub, 2014
                                                                  3. Lee KA et al: Molecular genetic, cardiac and neurodevelopmental findings in cases of prenatally diagnosed rhabdomyoma associated with tuberous sclerosis complex. Ultrasound Obstet Gynecol. 41(3):306-11, 2013
                                                                  4. Prabowo AS et al: Fetal brain lesions in tuberous sclerosis complex: TORC1 activation and inflammation. Brain Pathol. 23(1):45-59, 2013
                                                                  5. Gedikbasi A et al: Prenatal sonographic diagnosis of tuberous sclerosis complex. J Clin Ultrasound. 39(7):427-30, 2011
                                                                  6. Chen CP et al: Prenatal diagnosis of rhabdomyomas and cerebral tuberous sclerosis by magnetic resonance imaging in one fetus of a dizygotic twin pregnancy associated with a frameshift mutation in the TSC2 gene. Taiwan J Obstet Gynecol. 49(3):387-9, 2010
                                                                  7. Isaacs H: Perinatal (fetal and neonatal) tuberous sclerosis: a review. Am J Perinatol. 26(10):755-60, 2009
                                                                  8. Milunsky A et al: Prenatal molecular diagnosis of tuberous sclerosis complex. Am J Obstet Gynecol. 200(3):321, 2009
                                                                  9. Chao AS et al: Outcome of antenatally diagnosed cardiac rhabdomyoma: case series and a meta-analysis. Ultrasound Obstet Gynecol. 31(3):289-95, 2008
                                                                  10. Gupta N et al: Fetal cardiac rhabdomyoma with maternal tuberous sclerosis complicating pregnancy. Arch Gynecol Obstet. 278(2):169-70, 2008
                                                                  11. Zhang YX et al: Cardiac rhabdomyoma and renal cyst in a fetus: early onset of tuberous sclerosis with renal cystic disease. J Ultrasound Med. 27(6):979-82, 2008
                                                                  12. King JA et al: Maternal and fetal tuberous sclerosis complicating pregnancy: a case report and overview of the literature. Am J Perinatol. 22(2):103-8, 2005
                                                                  13. Fesslova V et al: Natural history and long-term outcome of cardiac rhabdomyomas detected prenatally. Prenat Diagn. 24(4):241-8, 2004
                                                                  14. Smirniotopoulos JG: Neuroimaging of phakomatoses: Sturge-Weber syndrome, tuberous sclerosis, von Hippel-Lindau syndrome. Neuroimaging Clin N Am. 14(2):171-83, vii, 2004
                                                                  15. Bader RS et al: Fetal rhabdomyoma: prenatal diagnosis, clinical outcome, and incidence of associated tuberous sclerosis complex. J Pediatr. 143(5):620-4, 2003
                                                                  16. Bargallo N et al: Hereditary subependymal heterotopia associated with mega cisterna magna: antenatal diagnosis with magnetic resonance imaging. Ultrasound Obstet Gynecol. 20(1):86-9, 2002
                                                                  17. Gamzu R et al: Evaluating the risk of tuberous sclerosis in cases with prenatal diagnosis of cardiac rhabdomyoma. Prenat Diagn. 22(11):1044-7, 2002
                                                                  18. Mitchell LA et al: Antenatal diagnosis of subependymal heterotopia. AJNR Am J Neuroradiol. 21(2):296-300, 2000
                                                                  19. Sgro M et al: Prenatal detection of cerebral lesions in a fetus with tuberous sclerosis. Ultrasound Obstet Gynecol. 14(5):356-9, 1999