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Tuberous Sclerosis
Anne Kennedy, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Abbreviations

                • Tuberous sclerosis (TS) or tuberous sclerosis complex (TSC)
                • TSC-associated neuropsychiatric disorders (TAND)
                  • Collective term for autism (61%), intellectual disability (45%), behavioral, psychiatric, intellectual, academic, neuropsychological, and psychosocial difficulties associated with TSC
              • Synonyms

                • Bourneville disease
              • Definitions

                • Dominantly inherited genetic disorder with striking clinical variability

              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. Borțea CI et al: The value of imagistics in early diagnosis of tuberous sclerosis. Case Rep Pediatr. 2020:1309184, 2020
                                    2. Auvin S et al: A step-wise approach for establishing a multidisciplinary team for the management of tuberous sclerosis complex: a Delphi consensus report. Orphanet J Rare Dis. 14(1):91, 2019
                                    3. Cavalcante CTMB et al: Perinatal unusual rhabdomyoma location - case report and systematic reviews of the literature. J Matern Fetal Neonatal Med. 1-15, 2019
                                    4. Chen J et al: Fetal cardiac tumors: fetal echocardiography, clinical outcome and genetic analysis in 53 cases. Ultrasound Obstet Gynecol. 54(1):103-9, 2018
                                    5. Curatolo P et al: Management of epilepsy associated with tuberous sclerosis complex: updated clinical recommendations. Eur J Paediatr Neurol. 22(5):738-48, 2018
                                    6. Dragoumi P et al: Diagnosis of tuberous sclerosis complex in the fetus. Eur J Paediatr Neurol. 22(6):1027-34, 2018
                                    7. Harris S et al: Maternal genetic disorders in pregnancy. Obstet Gynecol Clin North Am. 45(2):249-65, 2018
                                    8. Jana M et al: Expanding applications of prenatal MR imaging: detection of complex multisystem anomalies made easy. Indian J Pediatr. 85(9):716-7, 2018
                                    9. Chung CWT et al: Early detection of tuberous sclerosis complex: an opportunity for improved neurodevelopmental outcome. Pediatr Neurol. 76:20-6, 2017
                                    10. Randle SC: Tuberous sclerosis complex: a review. Pediatr Ann. 46(4):e166-71, 2017
                                    11. Rito M et al: Glomerulocystic kidney presenting as a unilateral kidney mass in a newborn with tuberous sclerosis: report of a case and review of the literature. Pathol Res Pract. 213(3):286-91, 2017
                                    12. Goel R et al: Fetal and maternal manifestations of tuberous sclerosis complex: Value of fetal MRI. Neuroradiol J. 29(1):57-60, 2016
                                    13. Ornoy A et al: Genetic syndromes, maternal diseases and antenatal factors associated with autism spectrum disorders (ASD). Front Neurosci. 10:316, 2016
                                    14. de Vries PJ et al: Tuberous sclerosis associated neuropsychiatric disorders (TAND) and the TAND Checklist. Pediatr Neurol. 52(1):25-35, 2015
                                    15. Sciacca P et al: Rhabdomyomas and tuberous sclerosis complex: our experience in 33 cases. BMC Cardiovasc Disord. 14:66, 2014
                                    16. Tyagi V et al: Fetal and postnatal magnetic resonance imaging of unilateral cystic renal dysplasia in a neonate with tuberous sclerosis. Pediatr Neonatol. 57(5):440-3, 2014
                                    17. Krueger DA et al: Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 49(4):255-65, 2013
                                    18. Northrup H et al: Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 49(4):243-54, 2013
                                    19. Prabowo AS et al: Fetal brain lesions in tuberous sclerosis complex: TORC1 activation and inflammation. Brain Pathol. 23(1):45-59, 2013
                                    20. Gedikbasi A et al: Prenatal sonographic diagnosis of tuberous sclerosis complex. J Clin Ultrasound. 39(7):427-30, 2011
                                    Related Anatomy
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                                    Related Differential Diagnoses
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                                    References
                                    Tables

                                    Tables

                                    KEY FACTS

                                    • Terminology

                                      • Imaging

                                        • Top Differential Diagnoses

                                          • Pathology

                                            • Clinical Issues

                                              • Diagnostic Checklist

                                                TERMINOLOGY

                                                • Abbreviations

                                                  • Tuberous sclerosis (TS) or tuberous sclerosis complex (TSC)
                                                  • TSC-associated neuropsychiatric disorders (TAND)
                                                    • Collective term for autism (61%), intellectual disability (45%), behavioral, psychiatric, intellectual, academic, neuropsychological, and psychosocial difficulties associated with TSC
                                                • Synonyms

                                                  • Bourneville disease
                                                • Definitions

                                                  • Dominantly inherited genetic disorder with striking clinical variability

                                                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. Borțea CI et al: The value of imagistics in early diagnosis of tuberous sclerosis. Case Rep Pediatr. 2020:1309184, 2020
                                                                      2. Auvin S et al: A step-wise approach for establishing a multidisciplinary team for the management of tuberous sclerosis complex: a Delphi consensus report. Orphanet J Rare Dis. 14(1):91, 2019
                                                                      3. Cavalcante CTMB et al: Perinatal unusual rhabdomyoma location - case report and systematic reviews of the literature. J Matern Fetal Neonatal Med. 1-15, 2019
                                                                      4. Chen J et al: Fetal cardiac tumors: fetal echocardiography, clinical outcome and genetic analysis in 53 cases. Ultrasound Obstet Gynecol. 54(1):103-9, 2018
                                                                      5. Curatolo P et al: Management of epilepsy associated with tuberous sclerosis complex: updated clinical recommendations. Eur J Paediatr Neurol. 22(5):738-48, 2018
                                                                      6. Dragoumi P et al: Diagnosis of tuberous sclerosis complex in the fetus. Eur J Paediatr Neurol. 22(6):1027-34, 2018
                                                                      7. Harris S et al: Maternal genetic disorders in pregnancy. Obstet Gynecol Clin North Am. 45(2):249-65, 2018
                                                                      8. Jana M et al: Expanding applications of prenatal MR imaging: detection of complex multisystem anomalies made easy. Indian J Pediatr. 85(9):716-7, 2018
                                                                      9. Chung CWT et al: Early detection of tuberous sclerosis complex: an opportunity for improved neurodevelopmental outcome. Pediatr Neurol. 76:20-6, 2017
                                                                      10. Randle SC: Tuberous sclerosis complex: a review. Pediatr Ann. 46(4):e166-71, 2017
                                                                      11. Rito M et al: Glomerulocystic kidney presenting as a unilateral kidney mass in a newborn with tuberous sclerosis: report of a case and review of the literature. Pathol Res Pract. 213(3):286-91, 2017
                                                                      12. Goel R et al: Fetal and maternal manifestations of tuberous sclerosis complex: Value of fetal MRI. Neuroradiol J. 29(1):57-60, 2016
                                                                      13. Ornoy A et al: Genetic syndromes, maternal diseases and antenatal factors associated with autism spectrum disorders (ASD). Front Neurosci. 10:316, 2016
                                                                      14. de Vries PJ et al: Tuberous sclerosis associated neuropsychiatric disorders (TAND) and the TAND Checklist. Pediatr Neurol. 52(1):25-35, 2015
                                                                      15. Sciacca P et al: Rhabdomyomas and tuberous sclerosis complex: our experience in 33 cases. BMC Cardiovasc Disord. 14:66, 2014
                                                                      16. Tyagi V et al: Fetal and postnatal magnetic resonance imaging of unilateral cystic renal dysplasia in a neonate with tuberous sclerosis. Pediatr Neonatol. 57(5):440-3, 2014
                                                                      17. Krueger DA et al: Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 49(4):255-65, 2013
                                                                      18. Northrup H et al: Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 49(4):243-54, 2013
                                                                      19. Prabowo AS et al: Fetal brain lesions in tuberous sclerosis complex: TORC1 activation and inflammation. Brain Pathol. 23(1):45-59, 2013
                                                                      20. Gedikbasi A et al: Prenatal sonographic diagnosis of tuberous sclerosis complex. J Clin Ultrasound. 39(7):427-30, 2011