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Tuberous Sclerosis
Luke L. Linscott, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Synonyms

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

              • Neurocutaneous syndrome: Hamartomatosis
                • Hamartomas of multiple organs → central nervous system (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

                        • Tubers

                          • SEN

                            • SEGA

                              • 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. Daghistani R et al: MRI characteristics of cerebellar tubers and their longitudinal changes in children with tuberous sclerosis complex. Childs Nerv Syst. ePub, 2014
                                                        2. Kothare SV et al: Severity of manifestations in tuberous sclerosis complex in relation to genotype. Epilepsia. 55(7):1025-9, 2014
                                                        3. Ouyang T et al: Subependymal giant cell astrocytoma: current concepts, management, and future directions. Childs Nerv Syst. 30(4):561-70, 2014
                                                        4. Boronat S et al: Intracranial arteriopathy in tuberous sclerosis complex. J Child Neurol. 29(7):912-919, 2013
                                                        5. Kadom N et al: Utility of magnetization transfer T1 imaging in children with seizures. AJNR Am J Neuroradiol. 34(4):895-8, 2013
                                                        6. Krsek P et al: Predictors of seizure-free outcome after epilepsy surgery for pediatric tuberous sclerosis complex. Epilepsia. 54(11):1913-21, 2013
                                                        7. Pascual-Castroviejo I et al: Significance of tuber size for complications of tuberous sclerosis complex. Neurologia. 28(9):550-7, 2013
                                                        8. 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
                                                        9. Krueger DA et al: Everolimus for subependymal giant-cell astrocytomas in tuberous sclerosis. N Engl J Med. 363(19):1801-11, 2010
                                                        10. 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
                                                        11. Karadag D et al: Diffusion tensor imaging in children and adolescents with tuberous sclerosis. Pediatr Radiol. 2005
                                                        12. 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

                                                                  TERMINOLOGY

                                                                  • Synonyms

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

                                                                    • Neurocutaneous syndrome: Hamartomatosis
                                                                      • Hamartomas of multiple organs → central nervous system (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

                                                                              • Tubers

                                                                                • SEN

                                                                                  • SEGA

                                                                                    • 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. Daghistani R et al: MRI characteristics of cerebellar tubers and their longitudinal changes in children with tuberous sclerosis complex. Childs Nerv Syst. ePub, 2014
                                                                                                              2. Kothare SV et al: Severity of manifestations in tuberous sclerosis complex in relation to genotype. Epilepsia. 55(7):1025-9, 2014
                                                                                                              3. Ouyang T et al: Subependymal giant cell astrocytoma: current concepts, management, and future directions. Childs Nerv Syst. 30(4):561-70, 2014
                                                                                                              4. Boronat S et al: Intracranial arteriopathy in tuberous sclerosis complex. J Child Neurol. 29(7):912-919, 2013
                                                                                                              5. Kadom N et al: Utility of magnetization transfer T1 imaging in children with seizures. AJNR Am J Neuroradiol. 34(4):895-8, 2013
                                                                                                              6. Krsek P et al: Predictors of seizure-free outcome after epilepsy surgery for pediatric tuberous sclerosis complex. Epilepsia. 54(11):1913-21, 2013
                                                                                                              7. Pascual-Castroviejo I et al: Significance of tuber size for complications of tuberous sclerosis complex. Neurologia. 28(9):550-7, 2013
                                                                                                              8. 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
                                                                                                              9. Krueger DA et al: Everolimus for subependymal giant-cell astrocytomas in tuberous sclerosis. N Engl J Med. 363(19):1801-11, 2010
                                                                                                              10. 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
                                                                                                              11. Karadag D et al: Diffusion tensor imaging in children and adolescents with tuberous sclerosis. Pediatr Radiol. 2005
                                                                                                              12. 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