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Spine
Diagnosis
Congenital and Genetic Disorders
Congenital
Genetic Disorders
Tuberous Sclerosis
Tuberous Sclerosis
Kevin R. Moore, MD; Jeffrey S. Ross, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Abbreviations

                • Subependymal giant cell astrocytoma (SGCA), subependymal nodule (SEN), lymphangioleiomyomatosis (LAM)

              • Synonyms

                • Tuberous sclerosis complex (TSC), Bourneville-Pringle syndrome

              • Definitions

                • Autosomal dominant disorder with multiorgan hamartomas

              IMAGING

              • General Features

                • Radiographic Findings

                  • CT Findings

                    • MR Findings

                      • Imaging Recommendations

                        • Angiographic Findings

                          DIFFERENTIAL DIAGNOSIS

                            PATHOLOGY

                            • General Features

                              • Staging, Grading, & Classification

                                CLINICAL ISSUES

                                • Presentation

                                  • Demographics

                                    • Treatment

                                      DIAGNOSTIC CHECKLIST

                                      • Image Interpretation Pearls

                                        Selected References

                                        1. Salussolia CL et al: Genetic etiologies, diagnosis, and treatment of tuberous sclerosis complex. Annu Rev Genomics Hum Genet. 20:217-40, 2019
                                        2. Randle SC: Tuberous sclerosis complex: a review. Pediatr Ann. 46(4):e166-71, 2017
                                        3. Henske EP et al: Tuberous sclerosis complex. Nat Rev Dis Primers. 2:16035, 2016
                                        4. Strowd RE et al: Cutaneous manifestations in neuro-oncology: clinically relevant tumor and treatment associated dermatologic findings. Semin Oncol. 43(3):401-7, 2016
                                        5. DiMario FJ Jr et al: Tuberous sclerosis complex. Pediatr Clin North Am. 62(3):633-48, 2015
                                        6. Li P et al: Rib and vertebral bone fibrous dysplasia in a child with tuberous sclerosis complex. Am J Med Genet A. 167A(11):2755-7, 2015
                                        7. Lew PP et al: Imaging of disorders affecting the bone and skin. Radiographics. 34(1):197-216, 2014
                                        8. 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
                                        9. Northrup H et al: Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 49(4):243-54, 2013
                                        10. Avila NA et al: CT of sclerotic bone lesions: imaging features differentiating tuberous sclerosis complex with lymphangioleiomyomatosis from sporadic lymphangioleiomymatosis. Radiology. 254(3):851-7, 2010
                                        11. Ess KC: Tuberous sclerosis complex: a brave new world? Curr Opin Neurol. 23(2):189-93, 2010
                                        12. Orlova KA et al: The tuberous sclerosis complex. Ann N Y Acad Sci. 1184:87-105, 2010
                                        13. Salerno AE et al: Vascular involvement in tuberous sclerosis. Pediatr Nephrol. 25(8):1555-61, 2010
                                        14. Lin DD et al: Neuroimaging of phakomatoses. Semin Pediatr Neurol. 13(1):48-62, 2006
                                        15. Stosic-Opincal T et al: Spine MRI findings in a patient with tuberous sclerosis: a case report-part I. Spine (Phila Pa 1976). 30(7):844, 2005
                                        16. Stosic-Opincal T et al: Spine MRI findings in a patient with tuberous sclerosis: a case report--part II. Spine (Phila Pa 1976). 30(8):992-3, 2005
                                        17. Erbay SH et al: Rapid development of optic glioma in a patient with hybrid phakomatosis: neurofibromatosis type 1 and tuberous sclerosis. AJNR Am J Neuroradiol. 25(1):36-8, 2004
                                        18. Gasparetto EL et al: Tuberous sclerosis and fibrous dysplasia. AJNR Am J Neuroradiol. 24(5):835-7, 2003
                                        19. Borman P et al: Osteopoikilosis: report of a clinical case and review of the literature. Joint Bone Spine. 69(2):230-3, 2002
                                        20. Jonard P et al: Tc-99m HDP bone scan showing bone changes in a case of tuberous sclerosis or Bourneville's disease. Clin Nucl Med. 26(1):50-2, 2001
                                        21. Roach ES et al: Tuberous Sclerosis Consensus Conference: recommendations for diagnostic evaluation. National Tuberous Sclerosis Association. J Child Neurol. 14(6):401-7, 1999
                                        22. Roach ES et al: Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J Child Neurol. 13(12):624-8, 1998
                                        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

                                                      • Subependymal giant cell astrocytoma (SGCA), subependymal nodule (SEN), lymphangioleiomyomatosis (LAM)

                                                    • Synonyms

                                                      • Tuberous sclerosis complex (TSC), Bourneville-Pringle syndrome

                                                    • Definitions

                                                      • Autosomal dominant disorder with multiorgan hamartomas

                                                    IMAGING

                                                    • General Features

                                                      • Radiographic Findings

                                                        • CT Findings

                                                          • MR Findings

                                                            • Imaging Recommendations

                                                              • Angiographic Findings

                                                                DIFFERENTIAL DIAGNOSIS

                                                                  PATHOLOGY

                                                                  • General Features

                                                                    • Staging, Grading, & Classification

                                                                      CLINICAL ISSUES

                                                                      • Presentation

                                                                        • Demographics

                                                                          • Treatment

                                                                            DIAGNOSTIC CHECKLIST

                                                                            • Image Interpretation Pearls

                                                                              Selected References

                                                                              1. Salussolia CL et al: Genetic etiologies, diagnosis, and treatment of tuberous sclerosis complex. Annu Rev Genomics Hum Genet. 20:217-40, 2019
                                                                              2. Randle SC: Tuberous sclerosis complex: a review. Pediatr Ann. 46(4):e166-71, 2017
                                                                              3. Henske EP et al: Tuberous sclerosis complex. Nat Rev Dis Primers. 2:16035, 2016
                                                                              4. Strowd RE et al: Cutaneous manifestations in neuro-oncology: clinically relevant tumor and treatment associated dermatologic findings. Semin Oncol. 43(3):401-7, 2016
                                                                              5. DiMario FJ Jr et al: Tuberous sclerosis complex. Pediatr Clin North Am. 62(3):633-48, 2015
                                                                              6. Li P et al: Rib and vertebral bone fibrous dysplasia in a child with tuberous sclerosis complex. Am J Med Genet A. 167A(11):2755-7, 2015
                                                                              7. Lew PP et al: Imaging of disorders affecting the bone and skin. Radiographics. 34(1):197-216, 2014
                                                                              8. 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
                                                                              9. Northrup H et al: Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 49(4):243-54, 2013
                                                                              10. Avila NA et al: CT of sclerotic bone lesions: imaging features differentiating tuberous sclerosis complex with lymphangioleiomyomatosis from sporadic lymphangioleiomymatosis. Radiology. 254(3):851-7, 2010
                                                                              11. Ess KC: Tuberous sclerosis complex: a brave new world? Curr Opin Neurol. 23(2):189-93, 2010
                                                                              12. Orlova KA et al: The tuberous sclerosis complex. Ann N Y Acad Sci. 1184:87-105, 2010
                                                                              13. Salerno AE et al: Vascular involvement in tuberous sclerosis. Pediatr Nephrol. 25(8):1555-61, 2010
                                                                              14. Lin DD et al: Neuroimaging of phakomatoses. Semin Pediatr Neurol. 13(1):48-62, 2006
                                                                              15. Stosic-Opincal T et al: Spine MRI findings in a patient with tuberous sclerosis: a case report-part I. Spine (Phila Pa 1976). 30(7):844, 2005
                                                                              16. Stosic-Opincal T et al: Spine MRI findings in a patient with tuberous sclerosis: a case report--part II. Spine (Phila Pa 1976). 30(8):992-3, 2005
                                                                              17. Erbay SH et al: Rapid development of optic glioma in a patient with hybrid phakomatosis: neurofibromatosis type 1 and tuberous sclerosis. AJNR Am J Neuroradiol. 25(1):36-8, 2004
                                                                              18. Gasparetto EL et al: Tuberous sclerosis and fibrous dysplasia. AJNR Am J Neuroradiol. 24(5):835-7, 2003
                                                                              19. Borman P et al: Osteopoikilosis: report of a clinical case and review of the literature. Joint Bone Spine. 69(2):230-3, 2002
                                                                              20. Jonard P et al: Tc-99m HDP bone scan showing bone changes in a case of tuberous sclerosis or Bourneville's disease. Clin Nucl Med. 26(1):50-2, 2001
                                                                              21. Roach ES et al: Tuberous Sclerosis Consensus Conference: recommendations for diagnostic evaluation. National Tuberous Sclerosis Association. J Child Neurol. 14(6):401-7, 1999
                                                                              22. Roach ES et al: Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J Child Neurol. 13(12):624-8, 1998