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Tuberous Sclerosis Complex
Luke L. Linscott, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Synonyms

                • Tuberous sclerosis complex (TSC), Bourneville syndrome, Pringle disease, epiloia
              • Definitions

                • Neurocutaneous syndrome: Hamartomatosis
                  • Hamartomas of multiple organs → CNS, skin, kidney, bone
                • "Original" phakomatosis
                  • "Phakoma" 1st used by Dutch ophthalmologist to describe retinal hamartoma

              IMAGING

              • General Features

                • Radiographic Findings

                  • CT Findings

                    • MR Findings

                      • Angiographic Findings

                        • Nuclear Medicine Findings

                          • Other Lesions

                            • Imaging Recommendations

                              DIFFERENTIAL DIAGNOSIS

                                PATHOLOGY

                                • General Features

                                  • Staging, Grading, & Classification

                                    • Gross Pathologic & Surgical Features

                                      • Microscopic Features

                                        CLINICAL ISSUES

                                        • Presentation

                                          • Demographics

                                            • Natural History & Prognosis

                                              • Treatment

                                                DIAGNOSTIC CHECKLIST

                                                • Consider

                                                  • Image Interpretation Pearls

                                                    Selected References

                                                    1. Gül Mert G et al: Factors affecting epilepsy prognosis in patients with tuberous sclerosis. Childs Nerv Syst. 35(3):463-8, 2019
                                                    2. Curatolo P et al: Management of epilepsy associated with tuberous sclerosis complex: Updated clinical recommendations. Eur J Paediatr Neurol. 22(5):738-48, 2018
                                                    3. Sun K et al: Magnetic resonance imaging of tuberous sclerosis complex with or without epilepsy at 7 T. Neuroradiology. 60(8):785-94, 2018
                                                    4. French JA et al: Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study. Lancet. 388(10056):2153-63, 2016
                                                    5. Krishnan A et al: Cross-sectional imaging review of tuberous sclerosis. Radiol Clin North Am. 54(3):423-40, 2016
                                                    6. Daghistani R et al: MRI characteristics of cerebellar tubers and their longitudinal changes in children with tuberous sclerosis complex. Childs Nerv Syst. 31(1):109-13, 2015
                                                    7. Manoukian SB et al: Comprehensive imaging manifestations of tuberous sclerosis. AJR Am J Roentgenol. 204(5):933-43, 2015
                                                    8. Kothare SV et al: Severity of manifestations in tuberous sclerosis complex in relation to genotype. Epilepsia. 55(7):1025-9, 2014
                                                    9. Ouyang T et al: Subependymal giant cell astrocytoma: current concepts, management, and future directions. Childs Nerv Syst. 30(4):561-70, 2014
                                                    10. Boronat S et al: Intracranial arteriopathy in tuberous sclerosis complex. J Child Neurol. 29(7):912-919, 2013
                                                    11. Kadom N et al: Utility of magnetization transfer T1 imaging in children with seizures. AJNR Am J Neuroradiol. 34(4):895-8, 2013
                                                    12. Krsek P et al: Predictors of seizure-free outcome after epilepsy surgery for pediatric tuberous sclerosis complex. Epilepsia. 54(11):1913-21, 2013
                                                    13. Pascual-Castroviejo I et al: Significance of tuber size for complications of tuberous sclerosis complex. Neurologia. 28(9):550-7, 2013
                                                    14. Cepeda C et al: Comparative study of cellular and synaptic abnormalities in brain tissue samples from pediatric tuberous sclerosis complex and cortical dysplasia type II. Epilepsia. 51 Suppl 3:160-5, 2010
                                                    15. Krueger DA et al: Everolimus for subependymal giant-cell astrocytomas in tuberous sclerosis. N Engl J Med. 363(19):1801-11, 2010
                                                    16. Kalantari BN et al: Neuroimaging of tuberous sclerosis: spectrum of pathologic findings and frontiers in imaging. AJR Am J Roentgenol. 190(5):W304-9, 2008
                                                    17. Karadag D et al: Diffusion tensor imaging in children and adolescents with tuberous sclerosis. Pediatr Radiol. 2005
                                                    18. Jansen FE et al: Diffusion-weighted magnetic resonance imaging and identification of the epileptogenic tuber in patients with tuberous sclerosis. Arch Neurol. 60(11):1580-4, 2003
                                                    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

                                                                • Synonyms

                                                                  • Tuberous sclerosis complex (TSC), Bourneville syndrome, Pringle disease, epiloia
                                                                • Definitions

                                                                  • Neurocutaneous syndrome: Hamartomatosis
                                                                    • Hamartomas of multiple organs → CNS, skin, kidney, bone
                                                                  • "Original" phakomatosis
                                                                    • "Phakoma" 1st used by Dutch ophthalmologist to describe retinal hamartoma

                                                                IMAGING

                                                                • General Features

                                                                  • Radiographic Findings

                                                                    • CT Findings

                                                                      • MR Findings

                                                                        • Angiographic Findings

                                                                          • Nuclear Medicine Findings

                                                                            • Other Lesions

                                                                              • Imaging Recommendations

                                                                                DIFFERENTIAL DIAGNOSIS

                                                                                  PATHOLOGY

                                                                                  • General Features

                                                                                    • Staging, Grading, & Classification

                                                                                      • Gross Pathologic & Surgical Features

                                                                                        • Microscopic Features

                                                                                          CLINICAL ISSUES

                                                                                          • Presentation

                                                                                            • Demographics

                                                                                              • Natural History & Prognosis

                                                                                                • Treatment

                                                                                                  DIAGNOSTIC CHECKLIST

                                                                                                  • Consider

                                                                                                    • Image Interpretation Pearls

                                                                                                      Selected References

                                                                                                      1. Gül Mert G et al: Factors affecting epilepsy prognosis in patients with tuberous sclerosis. Childs Nerv Syst. 35(3):463-8, 2019
                                                                                                      2. Curatolo P et al: Management of epilepsy associated with tuberous sclerosis complex: Updated clinical recommendations. Eur J Paediatr Neurol. 22(5):738-48, 2018
                                                                                                      3. Sun K et al: Magnetic resonance imaging of tuberous sclerosis complex with or without epilepsy at 7 T. Neuroradiology. 60(8):785-94, 2018
                                                                                                      4. French JA et al: Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study. Lancet. 388(10056):2153-63, 2016
                                                                                                      5. Krishnan A et al: Cross-sectional imaging review of tuberous sclerosis. Radiol Clin North Am. 54(3):423-40, 2016
                                                                                                      6. Daghistani R et al: MRI characteristics of cerebellar tubers and their longitudinal changes in children with tuberous sclerosis complex. Childs Nerv Syst. 31(1):109-13, 2015
                                                                                                      7. Manoukian SB et al: Comprehensive imaging manifestations of tuberous sclerosis. AJR Am J Roentgenol. 204(5):933-43, 2015
                                                                                                      8. Kothare SV et al: Severity of manifestations in tuberous sclerosis complex in relation to genotype. Epilepsia. 55(7):1025-9, 2014
                                                                                                      9. Ouyang T et al: Subependymal giant cell astrocytoma: current concepts, management, and future directions. Childs Nerv Syst. 30(4):561-70, 2014
                                                                                                      10. Boronat S et al: Intracranial arteriopathy in tuberous sclerosis complex. J Child Neurol. 29(7):912-919, 2013
                                                                                                      11. Kadom N et al: Utility of magnetization transfer T1 imaging in children with seizures. AJNR Am J Neuroradiol. 34(4):895-8, 2013
                                                                                                      12. Krsek P et al: Predictors of seizure-free outcome after epilepsy surgery for pediatric tuberous sclerosis complex. Epilepsia. 54(11):1913-21, 2013
                                                                                                      13. Pascual-Castroviejo I et al: Significance of tuber size for complications of tuberous sclerosis complex. Neurologia. 28(9):550-7, 2013
                                                                                                      14. Cepeda C et al: Comparative study of cellular and synaptic abnormalities in brain tissue samples from pediatric tuberous sclerosis complex and cortical dysplasia type II. Epilepsia. 51 Suppl 3:160-5, 2010
                                                                                                      15. Krueger DA et al: Everolimus for subependymal giant-cell astrocytomas in tuberous sclerosis. N Engl J Med. 363(19):1801-11, 2010
                                                                                                      16. Kalantari BN et al: Neuroimaging of tuberous sclerosis: spectrum of pathologic findings and frontiers in imaging. AJR Am J Roentgenol. 190(5):W304-9, 2008
                                                                                                      17. Karadag D et al: Diffusion tensor imaging in children and adolescents with tuberous sclerosis. Pediatr Radiol. 2005
                                                                                                      18. Jansen FE et al: Diffusion-weighted magnetic resonance imaging and identification of the epileptogenic tuber in patients with tuberous sclerosis. Arch Neurol. 60(11):1580-4, 2003